It is a case study report of mucopolysaccharidosis, I did when I was posted in Kanti Children's hospital
Prepared by:
Rashmi Regmi
B. Sc Nursing
Manmohan Memorial Institute of Health Sciences
This document provides an overview on approaching and managing a child with jaundice. It begins by defining jaundice as a visible manifestation of increased bilirubin levels. It then discusses the burden of jaundice in newborns, describing how most will experience some jaundice in the first week due to immature bilirubin metabolism. The document outlines how to classify jaundice as physiological or pathological based on clinical signs and bilirubin levels. For pathological jaundice, the main treatment approaches of phototherapy and exchange transfusion are described. The document provides guidance on evaluating the potential causes of jaundice and managing cases based on whether the hyperbilirubinemia is conjugated or
This document provides information on diabetes including definitions, epidemiology, diagnosis, etiologic classifications, physiology, presentation, investigations, management, treatment, insulin types, and special considerations for pediatric diabetes. It defines diabetes as a metabolic disorder characterized by hyperglycemia caused by insulin deficiency or resistance. Key points include that type 1 diabetes is an autoimmune condition resulting in absolute insulin deficiency, while type 2 involves insulin resistance with relative deficiency. Diagnosis requires hyperglycemic symptoms and blood glucose criteria. Management involves a multidisciplinary team, medical treatment including insulin administration and nutrition management, and screening for acute and long-term complications.
1. Diabetes mellitus is a chronic metabolic disease characterized by hyperglycemia due to either lack of insulin production or insulin resistance. The two main types are type 1 DM caused by autoimmune destruction of insulin-producing beta cells, and type 2 DM caused by insulin resistance with relative insulin deficiency.
2. Symptoms of diabetes include increased thirst, frequent urination, and unexplained weight loss. Type 1 diabetes often presents with diabetic ketoacidosis, while type 2 diabetes is usually diagnosed through routine testing. Treatment involves lifestyle changes, oral medications, and sometimes insulin therapy to control blood glucose levels.
3. Strict control is important to prevent long-term complications affecting the eyes, kidneys, nerves, heart
This document defines diabetic ketoacidosis (DKA) and describes its causes, pathophysiology, clinical manifestations, diagnostic criteria, and management. DKA is caused by low insulin levels and high counterregulatory hormones, resulting in hyperglycemia, dehydration, and metabolic acidosis. It is often triggered by missed insulin injections, illness, or stress in patients with type 1 diabetes. Treatment involves fluid resuscitation, insulin therapy, electrolyte replacement, and identifying/treating any precipitating causes to reverse the condition.
The document discusses diabetic ketoacidosis (DKA), a life-threatening complication that occurs most often in patients with type 1 diabetes. DKA is characterized by hyperglycemia, metabolic acidosis, and ketosis. It results from a lack of insulin and excess counterregulatory hormones that cause fat and protein breakdown. This leads to ketone accumulation and high blood glucose levels. Treatment involves insulin, intravenous fluids, electrolyte replacement, and monitoring for complications like cerebral edema.
This presentation was done by Dr. Julius P. Kessy,MD. An intern Doctor at Dodoma Regional Referral Hospital (DRRH) during pediatrics unit clinical meeting and supervised by Dr. Christina K. Galabawa,MD,Mmed2, Pediatrics and Child Health, University of Dodoma (UDOM) in November, 2017.
- A 10-month-old Saudi girl presented to the emergency room with fever and diarrhea for 2 days. She was born prematurely at 30 weeks and had a history of respiratory distress, brain hemorrhage, and necrotizing enterocolitis as a newborn. On examination, she had a high fever but was not dehydrated. Laboratory tests showed abnormalities including low thyroid function and low albumin levels. She was diagnosed with failure to thrive likely due to her prematurity and past medical history. She received nutritional management and thyroid replacement therapy.
- Failure to thrive is defined as inadequate physical growth diagnosed by observing growth trends on standard growth charts.
- It can be classified as organic (caused by medical issues) or nonorganic (caused by psychosocial factors) and further divided into prenatal or postnatal categories.
- Evaluating a child for failure to thrive involves taking a thorough history including feeding and medical history, performing a physical exam, and ordering basic screening labs tailored to the child's history and exam findings.
- Treatment focuses on increasing caloric intake to promote catch-up growth, addressing any underlying medical issues, modifying feeding behaviors, and involving psychosocial support services if nonorganic causes are suspected.
This document provides an overview on approaching and managing a child with jaundice. It begins by defining jaundice as a visible manifestation of increased bilirubin levels. It then discusses the burden of jaundice in newborns, describing how most will experience some jaundice in the first week due to immature bilirubin metabolism. The document outlines how to classify jaundice as physiological or pathological based on clinical signs and bilirubin levels. For pathological jaundice, the main treatment approaches of phototherapy and exchange transfusion are described. The document provides guidance on evaluating the potential causes of jaundice and managing cases based on whether the hyperbilirubinemia is conjugated or
This document provides information on diabetes including definitions, epidemiology, diagnosis, etiologic classifications, physiology, presentation, investigations, management, treatment, insulin types, and special considerations for pediatric diabetes. It defines diabetes as a metabolic disorder characterized by hyperglycemia caused by insulin deficiency or resistance. Key points include that type 1 diabetes is an autoimmune condition resulting in absolute insulin deficiency, while type 2 involves insulin resistance with relative deficiency. Diagnosis requires hyperglycemic symptoms and blood glucose criteria. Management involves a multidisciplinary team, medical treatment including insulin administration and nutrition management, and screening for acute and long-term complications.
1. Diabetes mellitus is a chronic metabolic disease characterized by hyperglycemia due to either lack of insulin production or insulin resistance. The two main types are type 1 DM caused by autoimmune destruction of insulin-producing beta cells, and type 2 DM caused by insulin resistance with relative insulin deficiency.
2. Symptoms of diabetes include increased thirst, frequent urination, and unexplained weight loss. Type 1 diabetes often presents with diabetic ketoacidosis, while type 2 diabetes is usually diagnosed through routine testing. Treatment involves lifestyle changes, oral medications, and sometimes insulin therapy to control blood glucose levels.
3. Strict control is important to prevent long-term complications affecting the eyes, kidneys, nerves, heart
This document defines diabetic ketoacidosis (DKA) and describes its causes, pathophysiology, clinical manifestations, diagnostic criteria, and management. DKA is caused by low insulin levels and high counterregulatory hormones, resulting in hyperglycemia, dehydration, and metabolic acidosis. It is often triggered by missed insulin injections, illness, or stress in patients with type 1 diabetes. Treatment involves fluid resuscitation, insulin therapy, electrolyte replacement, and identifying/treating any precipitating causes to reverse the condition.
The document discusses diabetic ketoacidosis (DKA), a life-threatening complication that occurs most often in patients with type 1 diabetes. DKA is characterized by hyperglycemia, metabolic acidosis, and ketosis. It results from a lack of insulin and excess counterregulatory hormones that cause fat and protein breakdown. This leads to ketone accumulation and high blood glucose levels. Treatment involves insulin, intravenous fluids, electrolyte replacement, and monitoring for complications like cerebral edema.
This presentation was done by Dr. Julius P. Kessy,MD. An intern Doctor at Dodoma Regional Referral Hospital (DRRH) during pediatrics unit clinical meeting and supervised by Dr. Christina K. Galabawa,MD,Mmed2, Pediatrics and Child Health, University of Dodoma (UDOM) in November, 2017.
- A 10-month-old Saudi girl presented to the emergency room with fever and diarrhea for 2 days. She was born prematurely at 30 weeks and had a history of respiratory distress, brain hemorrhage, and necrotizing enterocolitis as a newborn. On examination, she had a high fever but was not dehydrated. Laboratory tests showed abnormalities including low thyroid function and low albumin levels. She was diagnosed with failure to thrive likely due to her prematurity and past medical history. She received nutritional management and thyroid replacement therapy.
- Failure to thrive is defined as inadequate physical growth diagnosed by observing growth trends on standard growth charts.
- It can be classified as organic (caused by medical issues) or nonorganic (caused by psychosocial factors) and further divided into prenatal or postnatal categories.
- Evaluating a child for failure to thrive involves taking a thorough history including feeding and medical history, performing a physical exam, and ordering basic screening labs tailored to the child's history and exam findings.
- Treatment focuses on increasing caloric intake to promote catch-up growth, addressing any underlying medical issues, modifying feeding behaviors, and involving psychosocial support services if nonorganic causes are suspected.
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands caused by a deficiency in enzymes involved in cortisol and aldosterone production. The most common type (over 90% of cases) is 21-hydroxylase deficiency, which is autosomal recessive and can cause ambiguous genitalia in females and other symptoms. Clinical manifestations include salt wasting, low blood sugar, and excessive male hormone production leading to virilization. Diagnosis involves blood tests to measure hormone levels before and after stimulation with ACTH. Treatment consists of glucocorticoid and mineralocorticoid hormone replacement, monitoring of hormone levels, and surgery to correct ambiguous genitalia.
This document discusses the approach to recurrent abdominal pain in children. It defines acute, subacute, and chronic abdominal pain and discusses recurrent abdominal pain. The most common causes of abdominal pain seen in emergency departments are also summarized. A full history and physical exam are important for evaluating abdominal pain, and diagnostic testing should be guided by symptoms and exam findings. Home care and lifestyle advice are usually sufficient for recurrent abdominal pain in children without concerning alarm symptoms.
A case of a 3 month old boy with jaundice and pale stool is presented. On examination, he was icteric with hepatomegaly but no other abnormalities. Laboratory tests found direct hyperbilirubinemia. The objectives of the discussion are to understand neonatal cholestasis, evaluate cases, understand the differential diagnosis, and discuss treatment options. Neonatal cholestasis is prolonged conjugated hyperbilirubinemia beyond the first 14 days of life. Causes include extrahepatic conditions like biliary atresia or intrahepatic conditions like idiopathic neonatal hepatitis. Evaluation and management aim to identify treatable causes and prevent progression of liver disease.
This document discusses Hirschsprung disease, a genetic birth defect where nerve cells are absent from parts of the colon. This causes blockages and requires surgery. The case study involves a 13-month-old boy with chronic constipation concerning for Hirschsprung's. Research shows patients have altered gut microbiomes with more inflammation-linked bacteria. Studies found probiotic supplementation reduced incidence and severity of a common post-surgery complication called enterocolitis. Breastfeeding was also protective through its effects on the microbiome.
This document discusses chronic kidney disease in children. It defines chronic kidney disease as either kidney damage or a glomerular filtration rate below 60 ml/min/1.73m2 for over 3 months. Causes in children include congenital abnormalities, glomerulonephritis, cystic kidney diseases, and inherited disorders. Chronic kidney disease progresses through 5 stages and can cause complications affecting multiple organ systems. Treatment aims to replace kidney function, slow progression, and manage complications through measures like fluid/electrolyte control, nutrition, anemia treatment, bone disease management, and slowing kidney damage progression.
1. Neonatal cholestasis is defined as conjugated hyperbilirubinemia in a newborn. It can be caused by intrahepatic or extrahepatic conditions.
2. Common etiologies include biliary atresia, metabolic diseases like galactosemia, and infections. Biliary atresia is the most common cause of extrahepatic cholestasis.
3. Evaluation involves history, physical exam, lab tests including liver function tests and imaging, and may require liver biopsy. Treatment depends on the underlying cause but may include surgical intervention or lifestyle changes.
This document provides an overview of congenital hypothyroidism. It is the most common neonatal metabolic disorder and preventable cause of mental retardation. If left untreated it can result in cretinism. The incidence is higher in females, twins, and those with Down syndrome. Clinical manifestations include decreased activity, feeding issues, and delayed bone formation. Treatment involves oral levothyroxine to normalize thyroid levels.
This document discusses thyroid disorders in children from birth to adolescence. It begins with an introduction on the anatomy and physiology of the thyroid gland and thyroid hormone biosynthesis. It then covers congenital hypothyroidism including screening, causes, clinical presentations, investigations and treatment. Transient congenital hypothyroidism and acquired hypothyroidism are also discussed. The document concludes with sections on thyrotoxicosis including investigations and treatment of thyrotoxicosis in children.
This document defines diabetic ketoacidosis (DKA) and discusses its incidence, risk factors, signs, and treatment in children. DKA is characterized by hyperglycemia, acidosis, and ketosis. The risk of DKA is higher in children under 12, those with lower socioeconomic status or no family history of diabetes. Recurrent DKA occurs in 5% of children and accounts for 60% of DKA cases. Treatment involves fluid resuscitation, insulin therapy, electrolyte replacement, and close monitoring for cerebral edema, with consideration of ICU admission for severe cases. Successful management requires attention to detail, documentation, and repeated patient examination.
Pediatric tuberculosis case presentationAhumuza Denis
This document presents a case report of an 8-month-old male child brought to the hospital with a 3-month history of persistent cough, fever, and weight loss. On examination, the child was found to be wasted and underweight. Investigations showed anemia, lymphocytosis, and a positive urine TB-LAM test. The child was diagnosed with pulmonary TB, severe acute malnutrition, and suspected HIV infection. He was admitted and started on anti-TB treatment and therapeutic feeding for malnutrition. However, the mother discharged the child against medical advice after only a few days of treatment.
The document discusses malnutrition as a major cause of child deaths globally and in India. It outlines the signs and symptoms of severe acute malnutrition (SAM) in children and the 10 step treatment protocol to first stabilize and then rehabilitate malnourished children. This involves restoring blood glucose and body temperature, oral rehydration for diarrhea, vitamin and mineral supplements, and gradually advancing children to higher calorie therapeutic feeds. The goal is to discharge children once they have gained adequate weight and are free from infection. Prevention strategies are needed at the national, community and family level.
This document discusses the management of hyperbilirubinemia in newborns. It begins by covering bilirubin metabolism, sources of bilirubin, and inherited disorders that can cause jaundice. It then addresses physiological and non-physiological hyperbilirubinemia in newborns. The management section covers evaluation, treatment options like phototherapy and exchange transfusion, and measures to prevent bilirubin toxicity and kernicterus. Key points include the various causes of neonatal jaundice, methods for estimating bilirubin levels, and the mechanisms by which phototherapy works to reduce serum bilirubin.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
1. Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia due to insulin deficiency or insulin resistance. Type 1 diabetes results from autoimmune destruction of pancreatic beta cells leading to absolute insulin deficiency. It commonly presents in children and requires lifelong insulin replacement therapy. Type 2 diabetes is characterized by insulin resistance with relative insulin deficiency and predominantly affects obese children. Proper diabetes education and management including insulin therapy, nutrition, monitoring and prevention of acute and chronic complications are essential in children with diabetes.
This document provides information about neonatal sepsis, including its definition, classification, causes, risk factors, clinical features, diagnostic tests, management, and prevention. Some key points:
- Neonatal sepsis is a systemic bacterial infection occurring in newborns, defined as a positive blood culture within the first month of life. It is a major cause of neonatal mortality and morbidity.
- It can be classified as early-onset (before 72 hours of life) or late-onset (after 72 hours) sepsis. Early onset is usually caused by maternal genital tract bacteria, while late onset is caused by environmental and healthcare-associated bacteria.
- Risk factors include prematurity, prolonged rupture of membranes, chorio
Gastro Esophageal Reflux Disease (GERD) in children Azad Haleem
GERD is the most common esophageal disorder in children. Symptoms vary depending on a child's age, and can include regurgitation, irritability, coughing, and poor appetite. Diagnosis involves ruling out other potential causes through history and examination. Tests like barium swallows, pH monitoring, and endoscopy may then be used to confirm and assess complications of GERD like esophagitis. Managing GERD is important as it can impact a child's eating, sleeping, school and social activities if not properly treated.
Growth charts in Neonates- Preterm and termSujit Shrestha
Growth charts in Newborn, Preterm and term neonates. All historically used charts in NICU are discussed here.
Presented by Dr Sujit, in Sir Ganga Ram Hospital
The document provides guidance on history taking for pediatricians. It outlines the key attributes required of pediatricians including knowledge, skills, patience and compassion. It describes how to build rapport with children and parents through friendly behavior, making eye contact, and asking open-ended questions. The objectives and process of history taking are explained, with tips on listening actively and avoiding judgment. The document then details the various aspects of medical history to cover, such as presenting complaints, review of systems, past medical history, family history, and immunization status.
This document provides information about a case study presentation on cardiomyopathy. It includes the objectives of the case study, the rationale for selecting cardiomyopathy, and the patient's biographical information and medical history. The methodology used to produce the report is also described. The patient, a 67-year-old female, presented with shortness of breath and pedal edema. Her medical history and examination findings are detailed. The developmental tasks of older adults are discussed in relation to the patient. Cardiomyopathy is then defined as a heart muscle disease associated with cardiac dysfunction that is not the result of other cardiac abnormalities.
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders affecting the adrenal glands caused by a deficiency in enzymes involved in cortisol and aldosterone production. The most common type (over 90% of cases) is 21-hydroxylase deficiency, which is autosomal recessive and can cause ambiguous genitalia in females and other symptoms. Clinical manifestations include salt wasting, low blood sugar, and excessive male hormone production leading to virilization. Diagnosis involves blood tests to measure hormone levels before and after stimulation with ACTH. Treatment consists of glucocorticoid and mineralocorticoid hormone replacement, monitoring of hormone levels, and surgery to correct ambiguous genitalia.
This document discusses the approach to recurrent abdominal pain in children. It defines acute, subacute, and chronic abdominal pain and discusses recurrent abdominal pain. The most common causes of abdominal pain seen in emergency departments are also summarized. A full history and physical exam are important for evaluating abdominal pain, and diagnostic testing should be guided by symptoms and exam findings. Home care and lifestyle advice are usually sufficient for recurrent abdominal pain in children without concerning alarm symptoms.
A case of a 3 month old boy with jaundice and pale stool is presented. On examination, he was icteric with hepatomegaly but no other abnormalities. Laboratory tests found direct hyperbilirubinemia. The objectives of the discussion are to understand neonatal cholestasis, evaluate cases, understand the differential diagnosis, and discuss treatment options. Neonatal cholestasis is prolonged conjugated hyperbilirubinemia beyond the first 14 days of life. Causes include extrahepatic conditions like biliary atresia or intrahepatic conditions like idiopathic neonatal hepatitis. Evaluation and management aim to identify treatable causes and prevent progression of liver disease.
This document discusses Hirschsprung disease, a genetic birth defect where nerve cells are absent from parts of the colon. This causes blockages and requires surgery. The case study involves a 13-month-old boy with chronic constipation concerning for Hirschsprung's. Research shows patients have altered gut microbiomes with more inflammation-linked bacteria. Studies found probiotic supplementation reduced incidence and severity of a common post-surgery complication called enterocolitis. Breastfeeding was also protective through its effects on the microbiome.
This document discusses chronic kidney disease in children. It defines chronic kidney disease as either kidney damage or a glomerular filtration rate below 60 ml/min/1.73m2 for over 3 months. Causes in children include congenital abnormalities, glomerulonephritis, cystic kidney diseases, and inherited disorders. Chronic kidney disease progresses through 5 stages and can cause complications affecting multiple organ systems. Treatment aims to replace kidney function, slow progression, and manage complications through measures like fluid/electrolyte control, nutrition, anemia treatment, bone disease management, and slowing kidney damage progression.
1. Neonatal cholestasis is defined as conjugated hyperbilirubinemia in a newborn. It can be caused by intrahepatic or extrahepatic conditions.
2. Common etiologies include biliary atresia, metabolic diseases like galactosemia, and infections. Biliary atresia is the most common cause of extrahepatic cholestasis.
3. Evaluation involves history, physical exam, lab tests including liver function tests and imaging, and may require liver biopsy. Treatment depends on the underlying cause but may include surgical intervention or lifestyle changes.
This document provides an overview of congenital hypothyroidism. It is the most common neonatal metabolic disorder and preventable cause of mental retardation. If left untreated it can result in cretinism. The incidence is higher in females, twins, and those with Down syndrome. Clinical manifestations include decreased activity, feeding issues, and delayed bone formation. Treatment involves oral levothyroxine to normalize thyroid levels.
This document discusses thyroid disorders in children from birth to adolescence. It begins with an introduction on the anatomy and physiology of the thyroid gland and thyroid hormone biosynthesis. It then covers congenital hypothyroidism including screening, causes, clinical presentations, investigations and treatment. Transient congenital hypothyroidism and acquired hypothyroidism are also discussed. The document concludes with sections on thyrotoxicosis including investigations and treatment of thyrotoxicosis in children.
This document defines diabetic ketoacidosis (DKA) and discusses its incidence, risk factors, signs, and treatment in children. DKA is characterized by hyperglycemia, acidosis, and ketosis. The risk of DKA is higher in children under 12, those with lower socioeconomic status or no family history of diabetes. Recurrent DKA occurs in 5% of children and accounts for 60% of DKA cases. Treatment involves fluid resuscitation, insulin therapy, electrolyte replacement, and close monitoring for cerebral edema, with consideration of ICU admission for severe cases. Successful management requires attention to detail, documentation, and repeated patient examination.
Pediatric tuberculosis case presentationAhumuza Denis
This document presents a case report of an 8-month-old male child brought to the hospital with a 3-month history of persistent cough, fever, and weight loss. On examination, the child was found to be wasted and underweight. Investigations showed anemia, lymphocytosis, and a positive urine TB-LAM test. The child was diagnosed with pulmonary TB, severe acute malnutrition, and suspected HIV infection. He was admitted and started on anti-TB treatment and therapeutic feeding for malnutrition. However, the mother discharged the child against medical advice after only a few days of treatment.
The document discusses malnutrition as a major cause of child deaths globally and in India. It outlines the signs and symptoms of severe acute malnutrition (SAM) in children and the 10 step treatment protocol to first stabilize and then rehabilitate malnourished children. This involves restoring blood glucose and body temperature, oral rehydration for diarrhea, vitamin and mineral supplements, and gradually advancing children to higher calorie therapeutic feeds. The goal is to discharge children once they have gained adequate weight and are free from infection. Prevention strategies are needed at the national, community and family level.
This document discusses the management of hyperbilirubinemia in newborns. It begins by covering bilirubin metabolism, sources of bilirubin, and inherited disorders that can cause jaundice. It then addresses physiological and non-physiological hyperbilirubinemia in newborns. The management section covers evaluation, treatment options like phototherapy and exchange transfusion, and measures to prevent bilirubin toxicity and kernicterus. Key points include the various causes of neonatal jaundice, methods for estimating bilirubin levels, and the mechanisms by which phototherapy works to reduce serum bilirubin.
Congenital Adrenal Hyperplasia (CAH)
For 5th Year Medical Students and Endocrinology Modules and Master and MD Degree Internal Medicine and Endocrinology
By Dr Usama Ragab Youssif
References: Oxford Handbook of Endocrinology & Diabetes
1. Diabetes mellitus is a chronic metabolic disorder characterized by hyperglycemia due to insulin deficiency or insulin resistance. Type 1 diabetes results from autoimmune destruction of pancreatic beta cells leading to absolute insulin deficiency. It commonly presents in children and requires lifelong insulin replacement therapy. Type 2 diabetes is characterized by insulin resistance with relative insulin deficiency and predominantly affects obese children. Proper diabetes education and management including insulin therapy, nutrition, monitoring and prevention of acute and chronic complications are essential in children with diabetes.
This document provides information about neonatal sepsis, including its definition, classification, causes, risk factors, clinical features, diagnostic tests, management, and prevention. Some key points:
- Neonatal sepsis is a systemic bacterial infection occurring in newborns, defined as a positive blood culture within the first month of life. It is a major cause of neonatal mortality and morbidity.
- It can be classified as early-onset (before 72 hours of life) or late-onset (after 72 hours) sepsis. Early onset is usually caused by maternal genital tract bacteria, while late onset is caused by environmental and healthcare-associated bacteria.
- Risk factors include prematurity, prolonged rupture of membranes, chorio
Gastro Esophageal Reflux Disease (GERD) in children Azad Haleem
GERD is the most common esophageal disorder in children. Symptoms vary depending on a child's age, and can include regurgitation, irritability, coughing, and poor appetite. Diagnosis involves ruling out other potential causes through history and examination. Tests like barium swallows, pH monitoring, and endoscopy may then be used to confirm and assess complications of GERD like esophagitis. Managing GERD is important as it can impact a child's eating, sleeping, school and social activities if not properly treated.
Growth charts in Neonates- Preterm and termSujit Shrestha
Growth charts in Newborn, Preterm and term neonates. All historically used charts in NICU are discussed here.
Presented by Dr Sujit, in Sir Ganga Ram Hospital
The document provides guidance on history taking for pediatricians. It outlines the key attributes required of pediatricians including knowledge, skills, patience and compassion. It describes how to build rapport with children and parents through friendly behavior, making eye contact, and asking open-ended questions. The objectives and process of history taking are explained, with tips on listening actively and avoiding judgment. The document then details the various aspects of medical history to cover, such as presenting complaints, review of systems, past medical history, family history, and immunization status.
This document provides information about a case study presentation on cardiomyopathy. It includes the objectives of the case study, the rationale for selecting cardiomyopathy, and the patient's biographical information and medical history. The methodology used to produce the report is also described. The patient, a 67-year-old female, presented with shortness of breath and pedal edema. Her medical history and examination findings are detailed. The developmental tasks of older adults are discussed in relation to the patient. Cardiomyopathy is then defined as a heart muscle disease associated with cardiac dysfunction that is not the result of other cardiac abnormalities.
PEDIATRIC FILLABLE SOAP NOTE TEMPLATE
PEDIATRIC FILLABLE SOAP NOTE TEMPLATE
PEDIATRIC FILLABLE SOAP NOTE TEMPLATE
STUDENT NAME:
DATE OF ASSIGNMENT: 05/11/2020
Patient Initials: J.T.
Date of Encounter: 05/06/2020
Sex: Male
Age/DOB/Place of Birth: 12yo, DOB: 05/03/2008, Miami, FL
SUBJECTIVE
Historian: Patient J.T.
Present Concerns/CC: “My throat has been hurting recently”
Reason given by the patient for seeking medical care “in quotes”
Child Profile: (Sexual History (If appropriate); ADLs (age appropriate); Safety Practices; Changes in daycare/school/after-school care;
Sports/physical activity; Developmental Hx)
Patient is sexually inactive, a student at a local middle school, spends his time at home due to the COVID-19 pandemic, otherwise he enjoys playing videogames with his friends all day. The patient spends all of his time at home recently due to the pandemic but would otherwise go out with her family and friends sometimes.
HPI: (must include all components - OLD CARTS)
Patients throat began to hurt 2 days ago. It worsened over the past day, but he states that it is now around the same as yesterday. He states that he can still swallow food and drink, but it hurts when it passes his throat. It is present at all times of day, from when he wakes up, to when he goes to bed. The pain is localized at the back of this throat. It is dull and described as a 3/10. His mother has given him a honey and lime mixture that he states helps for a short while.
Medications: (List with reason for meds)
Patient not currently taking any medication
PMH:
Allergies: Dog hair, cat hair
Medication Intolerances:
None
Chronic Illnesses/Major traumas:
None
Hospitalizations/Surgeries:
None
Immunizations: All vaccines up to date with the exception of the most recent influenza vaccine.
Family History (please identify all immediate family)
Mother: 32 years old, no current health problems
Father: 34 years old, no current health problems
Social History (Education level, occupational history, current living situation/partner/marital status, substance use/abuse, ETOH, tobacco, and marijuana. Safety status)
Middle school student. Does not work. Lives with his parents and 2 brothers, one 6, the other 2 years old. Parents are married. Does not drink alcohol. Does not use recreational drugs, does not use tobacco products, does not smoke, does not vape. The patient states feeling safe at home with his family.
Review of Systems (ROS)
General
Denies fevers, chills, nausea, and vomiting
Cardiovascular
Denies chest pain, pressure, palpitations
Skin
Denies lesions, itching, or redness.
Respiratory
Denies shortness of breath, denies cough, denies difficulty breathing
Eyes
Denies blurred vision, denies visual loss, denies double vision
Gastrointestinal
Denies nausea and vomiting, denies abdominal pain, denies diarrhea, and bloody stools.
Ears
Denies hearing loss, pain, or dra.
The document discusses a case study of a 24-year-old female patient named Kalpana Pandit who was admitted to the hospital for cholelithiasis (gallstones). It provides details of her medical history, symptoms, physical examination findings, diagnosis, and treatment plan. The causes and risk factors for cholelithiasis are also briefly explained.
Comment by Morgan, Dorothy Tali Do not forget to include a runniLynellBull52
Comment by Morgan, Dorothy Tali: Do not forget to include a running head to follow APA guidelines
Health History
Yensi Aguilar
Benjamin Leon School of nursing
NUR1060C: Adult Health Assessment
Professor Dorothy Morgan
April 7, 2021
Health History
Identifying data
Date of history: 28/02/2021
Examiner: Yensi Aguilar
Name: L.P.
Address: 3403 SW 6h Street
Phone Number: 786-597-3071
Age:46
Sex: Female
Race: White
Place of Birth: Honduras
Marital Status: Married
Significant Other: Husband
Occupation: Teacher
Religion: Christian
Primary Language: Spanish
Secondary Language: English
Source of referral: The patient found the hospital’s address on the internet
Source of history: Documents with the patient’s health history gave information concerning the patient. The patient also talked concerning her health status.
Reliability: Currently, the patient seems to have a stable mental and physical state.
Chief Complaints/Reasons for Visit: According to the patient, she started experiencing high fever, blood-stained sputum, night sweats, coughing, and weight loss.
Present Illness
Time of onset: according to the patient, she started experiencing symptoms two weeks ago.
Type of onset: The patient says that she started by occasionally sweating, mild cough, headache, and pain in the abdomen area. Over time, these conditions became severe.
Original Source: The patient complains of pain in her chest and respiratory tract.
Severity: During the day, the patient does not feel many discomforts, but it becomes worse at night due to lower temperatures. Hence, the condition does not deter the patient from executing tasks during the day. The severity of her state is at 5 out of 10 on a 0-to-10-point scale.
Radiation: At night, the patient feels severe pain throughout her chest region
Time Relationship: At first, this condition was still developing and was easy to handle. However, it has evolved and has gotten worse.
Duration: It has been two weeks since the patient started experiencing the symptoms.
Association: The symptoms experienced by the patient are similar to those of flu.
Source of Relief: According to the patient, she feels better when resting after doing some light physical exercise.
Source of Aggravation: The symptoms become worse during the night. Again, exposure to allergens such as dust or cold increases the symptom’s severity.
Past History
General State of Health: The patient’s general condition is fair, considering she is suffering from a chronic illness.
Childhood Illnesses: She suffered from smallpox and measles as a child
Adult Illnesses: Hypertension, Anemia, and asthma
Psychiatric Illnesses: She has experienced mild depression in the past
Accidents and Injuries: Never had an accident or injuries
Operations: The patient denies any surgical operations
Hospitalizations: After visiting the hospital, the patient got an admission to the Jackson Hospital for one week to undergo treatment for asthma and hyper ...
Dr. Maimuna Sayeed presented the case of 2 year old Diya who presented with rashes on her body for 2 months along with swelling all over her body for 5 days and decreased urination. Her physical exam showed purpuric rashes, edema, and joint tenderness. Tests showed mild anemia, proteinuria, and normal electrolytes. Her ultrasound was normal. The provisional diagnosis was Henoch-Schönlein purpura with nephritis based on her rash, joint pain, abdominal pain, edema, and proteinuria. She was started on medications but had worsening symptoms on follow-up, so additional medications and a renal biopsy were planned.
This case summary describes an 8-year-old girl admitted to the hospital with multiple chronic issues including skin lesions, fever, cough, and poor growth. She has a history of recurrent skin infections, oral ulcers, ear infections, and gastrointestinal problems. Initial workup showed anemia, elevated inflammatory markers, and immunodeficiency. A working diagnosis of combined immunodeficiency and Hyper IgE syndrome was made. She is being treated with antibiotics, antifungals, IVIG, and workup is ongoing.
The document describes the case of a 31⁄2 year old boy who was admitted with a 1 year history of painless rectal bleeding after bowel movements. On examination, he appeared well with no abnormalities found. A colonoscopy revealed a pedunculated polyp 20cm from the anal verge, which was removed via colonoscopic polypectomy.
Case Study Report on PIH and Severe Pre eclampsiaRashmi Regmi
it is a case study report on PIH and Severe Pre eclampsia
I did when I was posted on Kist Medical TEaching Hospital for Midwifery Practicum
Prepared by:
Rashmi Regmi
B Sc Nursing
Manmohan Memorial Institute Of health Sciences
History taking is a critical process for physicians to obtain useful information from patients to formulate diagnoses and provide medical care. It involves asking specific questions to gain information about a patient's chief complaint, history of present illness, past medical history, family history, and systems review. An accurate history obtained through good communication skills is important, as the diagnosis can often be determined from the history alone in about 70% of cases. The history should be taken in a structured manner, with open-ended questions to allow the patient to provide their full account before asking focused questions.
The document outlines the process and importance of history taking in medical diagnosis and care. It explains that obtaining an accurate history from the patient is the critical first step, and that a physician can make a diagnosis in 70% of cases based on the history alone. The document then describes the components of a thorough history, including the patient's profile, chief complaint, history of present illness, past medical history, family history, social history, and a systems review. An effective history takes practice and focuses on active listening, building rapport, and involving the patient to understand their experience fully.
Case presentation on mengoencephalitis |Inflammation of the brain NEHA MALIK
Inflammation of the brain and surrounding tissues, usually caused by infection.
Meningoencephalitis is a condition that's usually caused by a virus, bacterium, parasite or other microorganism. Examples include West Nile virus, mumps or tuberculosis.
Symptoms vary, depending on the cause. They may include fever, confusion, vomiting, seizures or, if left untreated, death.
Treatment may include antibiotics, antivirals or supportive care, depending on the origin of the disease.
cerebral palsy - case presentation ^.pptxElakiya28
3 1⁄2 year old male child with motor delay, spasticity in all limbs more in lower limbs, right eye squint, and history of seizures. Born preterm with NICU stay and now presenting with static encephalopathy and spastic diplegia cerebral palsy. Examination revealed exaggerated reflexes and spasticity but no involuntary movements. Nutritional deficits present but vision and hearing are normal. Likely etiology is preterm birth and hypoxic insult.
The document provides demographic and clinical information about a 9-year-old female patient named Harshitha who presented with difficulty speaking due to a secondary cleft palate. It includes her medical history, family history, physical exam findings, assessment, treatment plan, and nursing responsibilities. The patient underwent secondary cleft palate repair surgery and received follow-up care including antibiotics and antipyretics. Her development was assessed as appropriate for her age based on standard parameters.
SOAP NOTE
Name:
N.C
Date:
10/26/2020
Time:
09.30 h
Age:
5-year-old
Sex:
M
CC:
"I have sore throat"
HPI:
A 5 y/o Hispanic male presents to the clinic complaining of sore throat that started 3 days ago. Describes that occasionally feels like “piercing or burning” pain that it is constant. Also, that is very painful to swallow. Mother states patient developed cold symptoms (cough, sneezing) about 5 days ago, sore throat started 3 days ago, and fever of 101.5 F began 24h ago. Patient added that the pain varies in intensity, rated anywhere from 8 to 9 on a Wong-Baker scale when eating or drinking, but at this moment rated his pain at 5. Reports that pain is not radiating to any surrounded area and “is better when drinking sips of a cold liquids like water or Kool-Aid or takes Ice cream”. Mother also states that fever somehow is relieved by rest and Tylenol. Confirms that his appetite has decreased in the last 3 days.
Medications:
Tylenol OTC PO PRN
PMH
Allergies: NKDA
Medication Intolerances: None
Chronic Illnesses/Major traumas: None
Hospitalizations/Surgeries: None
Immunizations:
- According to CDC for his age group, he is up to date with the following vaccines
• Influenza 2019
• Tdap 5th dose
• MMR 2nd dose
• Polio IVP 4th dose
• Chickenpox (Varicella) 2nd dose
Family History:
Mother: Alive – no significant medical history
Father: Alive - HTN
Sister: 8 years old healthy
Brother: 2 days old healthy
Social History
Lives with both parents and siblings. Appears comfortable and happy with mother in the room. Neither parents smoke. Patient began kindergarten this year at local public school.
General
Patient reports sore throat, but overall healthy, appropriate weight and height for age, usually very active but mostly lying around the past few days per mom.
Cardiovascular
Denies chest pain or palpitations.
Skin
Denies rash, inflammation, pain, tenderness, or skin lesion.
Respiratory
Denies any cough, wheezing, hemoptysis, dyspnea, pneumonia hx, TB exposure or symptoms per mom, or SOB.
Eyes
Denies use of corrective lenses or glasses, blurred vision, or visual changes of any kind.
ENT
Denies ear pain, hearing loss, ringing in ears, discharge. Reports no sinus problems, or nose bleeding. Complains of sore throat and aggravating pain when swallowing. Goes to dentist every 6 months per mom.
Gastrointestinal
Denies diarrhea, abdominal pain, or heartburn. He had his last bowel movement this morning and goes at least once a day.
Genitourinary
Denies urgency, frequency or burning and pain with urination. Reports no hematuria or change in color of urine. Denies penile pain.
Musculoskeletal
Denies back pain, joint swelling, stiffness, or muscle pain.
Heme/Lymph/Endo
Denies fatigue. Mother states swollen/tender cervical lymph nodes. Patient is appropriate size and weight for his age.
Neurological
Denies any syncope, seizures, transient paralysis, paresthesi.
Pediatrics History Taking and Physical Examination.pptxAJAY MANDAL
This document outlines the components and steps for taking a pediatric history and conducting a physical examination for newborns, infants, children, and adolescents. It discusses obtaining a thorough history, including chief complaint, history of present illness, review of systems, past medical history, family history, and social history. The document also provides guidance on performing a complete physical exam for newborns, assessing vital signs, appearance, and examining each body system.
The document provides information on Integrated Management of Newborn and Childhood Illness (IMNCI), a strategy developed by WHO and UNICEF to address the major causes of childhood mortality. It describes the main components of IMNCI, which include improved case management skills for health workers, improvements to health systems, and improvements in family/community practices. The clinical guidelines of IMNCI take a syndromic approach to assess, classify, identify treatment and counsel for common childhood illnesses like cough/pneumonia, diarrhea, fever, measles, ear problems, malnutrition and anemia. It provides treatment protocols for each illness based on severity of signs and symptoms. IMNCI aims to reduce deaths from preventable and treat
Similar to Case Study on Mucopolysaccharidosis (20)
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
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Muktapishti is a traditional Ayurvedic preparation made from Shoditha Mukta (Purified Pearl), is believed to help regulate thyroid function and reduce symptoms of hyperthyroidism due to its cooling and balancing properties. Clinical evidence on its efficacy remains limited, necessitating further research to validate its therapeutic benefits.
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These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
1. 1
OBJECTIVES
The main objective of this case study is enabling students to develop knowledge regarding
the normal growth and development of children, identify different diseases in a specific age
group, gain skill and practice in providing nursing care, provide advices, health teaching to
patient and family for management of the disease.
During this process I got opportunities to learn about disease condition, its complications and
complication that arise due to the disease.
General Objectives:
To obtain detail birth and medical/ pediatric history of patient
Describe process of growth and development of children from birth to adolescence
Explain the neonatal assessment and different level of care and strategies
Discuss common childhood disease/ problems related to various systems, etiology,
pathophysiology of diseases, diagnostic tests, treatment and nursing care
To perform physical assessment of the child
To learn about the disease process and it’s prevalence
To provide advices, health teaching to patient and family for management of the disease,
medications and complications
Apply nursing process for caring the child with disease
To identify minor and major discomfort and advice relieving and coping mechanisms
To apply nursing process to care the client
To identify the different modern technologies to treat the disease and overcome the
problems regarding childhood health and educate them and their family about child
health
3. 3
PATIENT’s HISTORY
A. Demographic Data
Date of interview:2070/4/15
Name of Patient: Biplav Dhital
Age:13 years Sex: Male
Cast: Brahmin Religion: Hindu
Ward: Medical Bed No:343
IP No: 85169
Address:
Permanent: Gorkha Ph. No:
Temporary: Lazimpat
Information obtained from client : Bed Prasad Dhital (father)
Date Of Admission: 2070/4/11
Medical Diagnosis: Mucopolysaccharidoses
B. Chief Presenting Complaints
Generalized weakness X 1year
Progressive deterioration of school performance since 1 year
Involuntary body movement for 1 and half hour 10 days prior to day of
admission
Child was asymptomatic 1 years back
C. History Of Present Illness
Patient developed progressive generalized weakness with easy fatigability with his
history of shortness of breath upon exertion and while climbing upstairs, history of
progressive deterioration of school performance since 1 year with history of fine
tremors of all limbs because of which patient was unable to carry out daily activities
smoothly.
4. 4
D. Past History:
Patient history of involuntary body movement 1 episode for one and half an hour
followed by uprolling of eyes with deviation of mouth, drolling from mouth, stiffening
of body and titanic spasms of hands with epileptic features
patient was apparently well one year back, when he develop viral fever for 1 week and
was treated with amoxicillin 250mg and cetamol for one week
After this episode of fever patient’s general condition started to deteriorate with visible
symptoms
1. Birth history (Prenatal, Natal and Postnatal History)
Gravida/ Para: G3P3
Tetanus toxoid: taken two doses TT
Medication during pregnancy: was under continuous iron and calcium supplementation
Duration of labour: 12 hour
Types of delivery: Vaccum delivery
Place of delivery: Instituitional delivery
Gestational age at birth: full term Apprx. 3kg birth weight
Condition of baby at birth: didn’t cry immediately after birth, cried almost after 1 hour
Admitted in NICU for 4 days for late cry
Any complication of birth: Prolonged second stage
Contraception use of mother: DPO
2. Nutritional history
Duration of breastfeeding : complete six month
Age of weaning: at beginning of 7 month
Food intake in a day: 4-5 times per day
Dietary pattern before the present illness
balanced meal comprising all sources of nutrients carbohydrates, proteins, vitamins
and minerals (i.e rice, cereals, meats, milk and milk products, vegetables and fruits)
5. 5
3. Previous Illness
Illness/ Disease Remarks
Malnutrition X
Tuberculosis X
Whooping cough X
Diptheria X
Measles X
Mumps X
Polio X
Rheumatic fever X
Diarrhea X
Injuries/ Accidents X
Hospitalization (reason) 4 days hospitalization after birth for delayed
crying
Operation/ any special treatments (e.g blood
transfusion)
No any
4. Allergies
Environment/Food/ Drug/ Others: not present
5. Immunization
Name of vaccine At what age Remarks
BCG At birth
DPT/Hib/HB-1 Approx at 2 months
DPT/Hib/HB-2 Approx at 4 months
DPT/Hib/HB-3 Approx at 6 months
Polio-1 Approx at 2 months
Polio-2 Approx at 4 months
Polio-3 Approx at 6 months
Measles Approx at 9 months
JE -
Others -
6. 6
6. Developmental History (milestones): at what age
Neck holding: 6 months
Roll over: 1 year
Crawl: One and half year
Sit: one and half year
Stand: 2 years
Walk: 2 and half years
Monosyllable: 13 months
Bisyllable: One and half years
Two words with meaning: 3 years
Feeding: after 7 months
7. Habits
Sleeping habit: 10- 12 hours per day
Play interest: was play full a year back but due to weakness and deteriorating physical
condition plays indoor games
Bowel/ bladder habit: regular, no history of constipation and diarrhea
Special problems: cannot concentrate for long time and progressively deteriorating physical
and mental capabilities
Coping behavior: not specific
Relation with parents/ peers/ friends: has harmonious relationship with siblings, peers and
family members
Recent family changes: not any
8. Home Environment
Water: spring Waste disposal: dumping
Latrine: water seal
House: two stored concrete (cement and brick), separate kitchen
7. 7
E. family History
S.N No. of children Age Health Status
1. Biplav Dhital 13 years Ill
2. Sarita Dhital 11 years Healthy
3. Renu Dhital 8 years Healthy
Mother’s family
High blood pressure: not any
Diabetes: not any
Cancer: not any
Blood disorder: not any
Cardiovascular problems: not any
Arthritis/ Gout: not any
Asthma: not any
Tuberculosis: not any
Others: X
Father’s family
High blood pressure: not any
Diabetes: not any
Cancer: grandfather (blood cancer)
Blood disorder: grandfather (blood cancer)
Cardiovascular problems: not any
Arthritis/ Gout: not any
Asthma: not any
Tuberculosis: not any
Others: X
8. 8
Family Tree
62years 56yrs
55yrs 60yrs (blood cancer)
42 yrs 40yrs 39yrs 37yrs 33yrs 30yrs 28yrs 40yrs 38yrs 36yrs 31yrs 29
13yrs 11yrs 8yrs
Ill Healthy Healthy
Key:
Alive healthy male
Alive healthy female
Patient
P
P
9. 9
Physical Examination
Physical Examination
(Objective Data)
Yes No Findings/ Comments
1. Vital Sign:
Temperature:
Pulse:
Respiration:
Rate:
Rhythm:
Regularity:
Blood Pressure:
✓ Vital Sign:
Temperature:98ºf
Pulse:88/m
Respiration:20/m
Rate: normal
Rhythm: rhythmic
Regularity: regular
Blood Pressure:-
2. Anthropometric Measurement
Height / Length:
Weight:
Height / Length: 127cm
Weight: 23kg
3.General Appearance
Alertness/Drowsiness
Consciousness:
Irritability:
Hygiene:
Posture/ Gait:
✓
✓
✓
✓
✓
General Appearance:
Alert
Conscious
Not irritable
Hygiene maintained
Posture abnormal (tilted, head and
hands facing outside)
4. Lymph Nodes Examination
-Pre-auricle:
-Post-auricle:
-Sub-mandible:
-Sub-clavicle:
-Cervical:
-Auxiliary:
-Inguinal:
✓
Red/ Enlargement/ Tenderness
No any lymph node redness,
enlargement or tenderness
4. Head
Hair
-Color and texture:
-Hygiene:
- Black color, smooth texture
- Hair hygiene not maintained
10. 10
Head
-Shape/Size of the head:
-Symmetry:
-Posture:
-Skull sutures:
-Fontanel:
-Swelling/ Injury:
-Tenderness:
-Headache:
- Long, abnormal, two prominent
bilateral temporal horn present
- Symmetrical
- Straight
- Normal
- Closed
- No any
- No any
- No any
5. Face
-Symmetry/ Movement:
-Swelling:
-Palsy:
-Sinuses:
- Symmetrical and normal facial
movements
- No swelling
- Not seen
- No pain and tenderness in sinus
6. Eyes
-Discharge
-Size and Symmetry
-Color of sclera
-Conjunctiva
-Lids
-Inter-papillary distance
-Epi-canthal folds
-Lacrimal punctum
-Cornea (color)
*Opacities
*Ulceration
-Pupils
-Lens:
-Vision:
✓
✓
✓
✓
- No discharge seen
- Symmetrical
- Transparent
- Pink in color
- Normal
- large i.e more than 2.5cm (4cm)
- Normal
- Observed normal, no sign of
blockage or inflammation
- Transparent
Corneal clouding present
Absent
- Normal papillary reaction
- No opacities, normal
- Decreased visual acquity
No abnormalities seen like entropion,
ptosis
11. 11
7. Ears
-Pinna (Shape/Size/Location)
-Skin around ear
-Wax
-Tympanic membranes
*Color
*Tenderness
-Hearing defect
✓
✓
✓
Normally located
No extra growths, normal
Present but not in excessive amount
Healthy, no ulceration and
inflammation observed
Slight yellowish
Absent
Present
8.Nose:
-Structure
-Placement/alignment
-Nasal flaring
-Mucosa
-Septum
*Polyps/ Swelling
-Discharge
✓
✓
flat
Centrally located, no deviations, normal
shape and size
Uniform in size
Pink
Normal, no deviation
Absent
Absent
9. Mouth and Throat
Sore on lips
Color/ cracks/ ulceration
Oral cavity
Mucus membrane color
Gum-bleeding/ ulceration/ swelling
Missing teeth
Dental caries
Tongue
Odor from mouth
Difficulty in swallowing
Tonsils
✓
✓
✓
✓
✓
✓
✓
Absent
Pink color, no cracks and ulceration
seen
Oral mucus membrane pink, no sores
and ulceration
Absent
Absent
Pink in color, no sign of anemia
Absent
Absent
Pink, small, no sign of inflammation
10.Neck
Size/Shape Normal size and shape, centrally
located xiphoid process, no mass and
scars present
12. 12
Movements
Thyroid Gland
Shape/size/position
Visible/not visible
Palpable/not palpable
✓
✓
✓
Smooth range of motion, no rigidity and
stiffening, no tenderness
Normal size and shape
Not visible
Not palpable
11.Chest
Size and shape
Symmetry
Movement
Rib cage- number
Intercostals space-
tenderness/swelling
Sternum- location
Costal angle
Nipples- position
Pain
Auscultation
Percussion
Pigeon shaped chest , centrally located
xiphoid process, no mass and scars
present AP: 17inch and lateral 22 inch
Smooth range of motion, no rigidity and
stiffening, no tenderness
12 on each side (24 total)
Absent
Central
Symmetrical, tilted downward and
laterally
In midclavicular line
Absent
Normal size and shape
No abnormal breath sound present
Deep resonant sound
12. Lungs
Apex
Respiratory movements
Dyspnea
Breath sound
Grunting
Chest pain
Cough/ sputum
Wheeze
✓
✓
Normal breathe sound heard, located on
2nd
intercostals space
Normal
Absent
Adventitious breathe sound absent
Absent
Absent
Absent
Absent
13. 13
13. Heart
Inspection
Neck vein- distended/ not distended
Clubbing of fingers-yes/no
Cyanosis, central, peripheral
Edema
Palpation
Apical pulse
Capillary Refill
Auscultation
Heart sounds
✓
✓
✓
✓
Jugular vein not distended
Absent
Absent
Absent
Regular, rhythmic
Normal i.e.<3sec
No abnormal heart sound heard
14. Abdomen
Inspection
Skin
Shape/ size:
Abdomen-
distended/ascites/protruding
Umbilicus- herniation/ discharge/
hygiene and fistula
Auscultation
Bowel sound: Present/ absent
Percussion:
Dullness or flat
Palpation
Pain/ tenderness/ masses
Liver-palpable/ not palpable
spleen-palpable/ not palpable
kidney-pain/ tender
✓
✓
✓
✓
✓
✓
No signs of dehydration, smooth, no
striae, lesions of incision mark seen
Round and normal, no sign of
distention, herniation, no dilated veins
seen
Normal and present i.e gurgling and
clicks
Normal sound heard (tympanic)
Percussion performed in four regions
around abdomen
Pain, tenderness and masses absent
Liver not palpable
Spleen not palpable
Not tender
15.Genitalia
Male genitalia
External appearance of penis,
urethral and scrotum, prepuce size/
✓
Normal in appearance, normal size no
hypospodias present, prepuce size
normal
14. 14
discharge
Pain of swelling in the scrotum
Anus
Anal opening
Irritation
Crack
Fissures
Enlarged vessels/ hemorrhoids
Pain/ tenderness
✓
✓
✓
✓
✓
✓
✓
Absent
Present and normal
Absent
Absent
Absent
Absent
Absent
16. posture
Body movements
Peripheral sensation
Skin sensation to warm/cold
✓
✓
✓
Abnormal body movements present like
seizure, convulsions and tremors
Intact
Normal sensation
17. Reflexes
Planter/ knee jerk/biceps/triceps
reflex
✓ Exaggerated reflexes
18.Musculoskeletal:
Extremities
Symmetry of length
Size/shape
Number of finger and toes
Color
Tenderness
Pain
Muscle/tone and strength
Joint:
Swelling/movement/tenderness/pain
✓
✓
✓
All extremities are proportionate and
symmetrical
Normal
10 fingers and 10 toes
pink
Absent
Absent
Poor muscle tone and strength
Absent
15. 15
Summary of findings
I performed head to toe physical examination of Biplav Dhital, 13 years male diagnosed with
Mucopolysaccharidoses admitted on 2070/4/11 in medical ward. The findings
obtained during this procedure are listed below
Vital Signs:
Temperature: 98ºf
Pulse: 88/m
Respiration:20/m
Anthropoemetric measurement:
Height: 127cm
Weight: 23 cm
Abnormal findings:
Patient was alert and conscious at the time of physical examination.
Patient’s general condition was good
Patient’s personal hygiene was well maintained
Patients was well hydrated
Absence of edema
General appearance:
- Coarse facial appearance
- Flat nasal bridge
- Pallor negative, cyanosis negative
- Large intracanthal distance (4.5cm)
- Dental spacing in all teeths
Prominent bilateral temporal horns, abnormal contour of head
Decreased visual acquity of both eye
No appearance of secondary sexual characteristics
Decreased muscle mass in limbs
Decreased strength
Exaggerated reflexes
Pigeon shaped chest with pectus excavation bilateral
No abnormal heart sounds present
Scioliosis present with concavity towards Right side
Lesion in right side of back due to fall
Corneal clouding on both eye
16. 16
Developmental tasks
As my patient is of age 13 years he falls under group adolescents and has following
developmental tasks
According to book In my patient
Adjust to sexually maturing bodies
and feelings
Develop and apply abstract thinking
skills
Develop and apply new perspective
on human relationships
Develop and apply new coping skills
in areas such as decision making,
problem solving, and conflict
resolution
Identify meaningful moral standards,
values, and belief systems
Understand and express more
complex emotional experiences
Form friendships that are mutually
close and supportive
Establish key aspects of identity
Meet the demands of increasingly
mature roles and responsibilities
Renegotiate relationships with adults
in parenting roles
He hasn’t achieved this goal due to
developmental in development of
secondary sexual characteristics
He hasn’t achieved it as a result of
progressive degradation of
intellectuality
He hasn’t achieved this goal as a lack
of abstract thinking and perspectives
He has achieved this goal but in
minimal level as his decision making
capacity is not yet evolved however
he’s capable of solving very few of
his problems
He hasn’t achieved this goal as this
development is lagging and is as
equal as of a school age children
He hasn’t achieved this tasks either
He has achieved this goal as his father
mentioned he has developed this sorts
of relation with his friends
He hasn’t achieved this goal
He hasn’t achieved this goal as he’s
growth is retrograded at school age
He is still dependent on his parents
and hasn’t seek independence thus
hasn’t renegotiate his relationship
18. 18
Anatomy
Lysosomes
Lysosomes are membrane-enclosed organelles that contain an array of enzymes capable of
breaking down all types of biological polymers—proteins, nucleic acids, carbohydrates,
and lipids. Lysosomes function as the digestive system of the cell, serving both to degrade
material taken up from outside the cell and to digest obsolete components of the cell itself.
Lysosomes are cellular organelles that contain acid hydrolase enzymes that break down waste
materials and cellular debris. They can be described as the stomach of the cell.
Lysosomes contain about 50 different degradative enzymes that can
hydrolyze proteins, DNA, RNA, polysaccharides, and lipids. Mutations in the genes that encode
these enzymes are responsible for more than 30 different human genetic diseases, which are
called lysosomal storage diseases because undegraded material accumulates within the
lysosomes of affected individuals. Most of these diseases result from deficiencies in single
lysosomal enzymes.
Function of lysosomes
There are two major functions of lysosomes and they are phagocytosis and autophagy
In phagocytosis, specialized cells, such as macrophages, take up and degrade large particles,
including bacteria, cell debris, and aged cells that need to be eliminated from the body. Such
19. 19
large particles are taken up in phagocytic vacuoles (phagosomes), which then fuse with
lysosomes, resulting in digestion of their contents.
Lysosomes are also responsible for autophagy, the gradual turnover of the cell’s own
components. The first step of autophagy appears to be the enclosure of an organelle (e.g., a
mitochondrion) in membrane derived from the endoplasmic recticulum (ER). The resulting
vesicle (an autophagosome) then fuses with a lysosome, and its contents are digested
Introduction
Lysosomal storage disorders
Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic
disorders that result from defects in lysosomal function. Lysosomal storage are genetic
diseases caused by specific enzyme deficiencies that result in the buildup of undegraded
substance inside cell organelles called lysosomes.
Lysosomes function as recycling units of each cell which harbor specific enzymes that
breakdown several substances, including proteins, sugars and lipids into simple products that
the cell then utilizes to build renewal these substances. Each of these lysosomal enzymes has
specific substances that they are capable of degrading. Lysosomal enzymes break down
macromolecules, either those from the cell itself (eg, when cellular structural components are
being recycled) or those acquired outside the cell. Inherited defects or deficiencies of
lysosomal enzymes (or other lysosomal components) can result in accumulation of
undegraded metabolites. Therefore, LSDs manifest as systemic diseases in patients with
multiple and progressive neurological, renal, cardiovascular, gastro-intestinal, musculo-
skeletal, ophthalmological, cutaneous and respiratory problems. This ultimately results in the
impairment of lysosomal function and consequently cell function in multiple organs and
systems.
20. 20
Almost 60 LSD have been described known lysosomal storage diseases. Some common LSD
include:
Fabry disease – known as X-linked genetic disease but affect both male and females with
kidney, heart and pulmonary problems, chronic pain and s typical skin sign
Gaucher disease – progressive LSD causing enlargement of spleen, liver and bone lesions.
Some forms affect also the brain causing sever neurological problems
Mucopolysaccharidosis (I-VII) – result from accumulation of mucopolysaccharides in
causing progressive damage multiple organs and systems including heart, bones, joints, eyes,
respiratory system and central nervous system. While the disease may not be apparent at
birth, signs and symptoms develop with age as more cells become damaged by the
accumulation of cell materials
21. 21
Niemann-Pick C disease – results in progressive neurological condition along with
enlargement of the spleen and liver, as well as lung disease
Pompe disease - an often fatal is presented in infancy with storage disease in which glycogen
builds up mainly in the heart, initially also known as acid maltase deficiency. If it manifests
in childhood and adulthood, Pompe can cause progressive shoulder, hips and respiratory
muscles
Metachromatic leukodystrophy and Krabbe disease – devastating LSD that result in
progressive and neurodegerative diseases. When presented in adulthodd are associated with
neuropathies and psychiatric problems.
Tay-Sachs disease - a LSD causing severe and progressive causing degeneration of the brain
in infants and nerve (pain and tactile sensation problems) and psychiatric problems in
adolescence and adults.
Incidence
The LSD are genetic disorders are rare. LSD incidence has shown recently to be 1/2,000-
3,000 live-births.
Because there are numerous specific deficiencies, storage diseases are usually grouped
biochemically by the accumulated metabolite. Subgroups include
Mucopolysaccharidoses
Sphingolipidoses (lipidoses)
Mucolipidoses
The most important are the mucopolysaccharidoses and sphingolipidoses.
22. 22
MUCOPOLYSARCIODOSES
Introduction
Mucopolysaccharidoses are group of metabolic disorders caused by the absence or
malfunctioning of lysosomal enzymes needed to breakdown molecules called
glycosaminoglycans- long chains of sugar carbohydrates in each of our cells that help build
bone, cartilage, tendons, corneas, skin and connective tissues. Glycosaminoglycans (formerly
called mucopolysaccharidoses) are also found in the synovial fluid.
People with a mucopolysaccharidoses disease either do not produce enough of one of the 11
enzymes required to break down sugar chain or they produce defective enzymes.
Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The
result is permanent, progressive cellular damage which affects appearance, physical abilities,
organ and system functioning, and, in most cases, mental development.
The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more
than 40 genetic disorders that result when a specific organelle in our bodies' cells – the
lysosome – malfunctions. The lysosome is commonly referred to as the cell’s recycling center
because it processes unwanted material into substances that the cell can utilize.
Lysosomes break down this unwanted matter via enzymes, highly specialized proteins
essential for survival. Lysosomal disorders like mucopolysaccharidoses are triggered when a
particular enzyme exists in too small an amount or is missing
Types
There are seven clinical types and subtypes of mucopolysaccharidoses depending on the type
of enzymes deficient
S.N Types Deficient enzymes Accumulated
products
1 MPS I
MPS IH-Hurler Syndrome
MPS IH/S- Hurler Scheie
Syndrome
MPS IS- Scheie Syndrome
α-L-iduronidase Heparan sulfate
Dermatan sulfate
2 MPS II – Hunters Syndrome Iduronate sulfatase Heparan sulfate
23. 23
3 MPS III
MPS IIIA- Sanfilippo syndrome A
MPS IIIB- Sanfilippo syndrome B
MPS IIIC- Sanfilippo syndrome C
MPS IIID- Sanfilippo syndrome D
Heparan sulfamidase
N-acetylglucosaminidase
Heparan-α-glucosaminide
N-acetyltransferase
N-acetylglucosamine 6-
sulfatase
Heparan sulfate
4 MPS IV
MPS IVA-Morquino Syndrome A
MPSIVB- Morquino Syndrome B
Galactose-6-sulfate
sulfatase
β-galactosidase
Keratan sulfate
Chondroitin 6-sulfate
Keratan sulfate
5 MPS IS- Scheie Syndrome
6 MPS VI - Maroteaux-Lamy Syndrome N-acetylglucosamine 4-
sulfatase
Dermatan sulfate
7 MPS VII- Sly Syndrome β-glucronidase Heparan sulfate
Dermatan sulfate
Chondroitin 4,6-
sulfate
9 MPSIX-Natowicz Syndrome Hyaluronidase Hyaluronic acid
1. MPS I
MPS I is divided into three subtypes based on severity of symptoms. All three types result
from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. Children born
to an MPS I parent carry the defective gene.
MPS I H (also called Hurler syndrome or α-L-iduronidase deficiency), is the most
severe of the MPS I subtypes. Developmental delay is evident by the end of the first year,
24. 24
and patients usually stop developing between ages 2 and 4. This is followed by
progressive mental decline and loss of physical skills. Language may be limited due to
hearing loss and an enlarged tongue. In time, the clear layers of the cornea become
clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar
compression of nerves elsewhere in the body) and restricted joint movement are
common.
Affected children may be quite large at birth and appear normal but may
have inguinal (in the groin) or umbilical (where the umbilical cord passes through the
abdomen) hernias. Growth in height may be faster than normal but begins to slow before
the end of the first year and often ends around age 3. Many children develop a short body
trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat
face, depressed nasal bridge, and bulging forehead) become more evident in the second
year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are
often enlarged. Children may experience noisy breathing and recurring upper respiratory
tract and ear infections. Feeding may be difficult for some children, and many experience
periodic bowel problems. Children with Hurler syndrome often dies before age 10 from
obstructive airway disease, respiratory infections, and cardiac complications.
MPS I S, Scheie syndrome, is the mildest form of MPS I. Symptoms generally begin to
appear after age 5, with diagnosis most commonly made after age 10. Children with
Scheie syndrome have normal intelligence or may have mild learning disabilities; some
may have psychiatric problems. Glaucoma, retinal degeneration, and clouded corneas
may significantly impair vision. Other problems include carpal tunnel syndrome or other
nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic
valve disease. Some affected individuals also have obstructive airway disease and sleep
apnea. Persons with Scheie syndrome can live into adulthood.
MPS I H-S, Hurler-Scheie syndrome, is less severe than Hurler syndrome. Symptoms
generally begin between ages 3 and 8. Children may have moderate mental retardation
and learning difficulties. Skeletal and systemic irregularities include short stature,
marked smallness in the jaws, progressive joint stiffness, compressed spinal cord,
clouded corneas, hearing loss, heart disease, coarse facial features, and umbilical hernia.
Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Some
persons with MPS I H-S need continuous positive airway pressure during sleep to ease
breathing. Life expectancy is generally into the late teens or early twenties.
25. 25
1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one
in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.
My patient was diagnosed with MPS IS- Scheie Syndrome
2. MPS II
MPS II, Hunter syndrome or iduronate sulfatase deficiency, is caused by lack of the
enzyme iduronate sulfatase. Hunter syndrome has two clinical subtypes and (since it
shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in
which the mother alone can pass the defective gene to a son. The incidence of Hunter
syndrome is estimated to be 1 in 100,000 to 150,000 male births.
3. MPS III
MPS III, Sanfilippo syndrome, is marked by severe neurological symptoms. These
include progressive dementia, aggressive behavior, hyperactivity, seizures,
some deafness and loss of vision, and an inability to sleep for more than a few hours at a
time. This disorder tends to have three main stages. During the first stage, early mental
and motor skill development may be somewhat delayed. Affected children show a
marked decline in learning between ages 2 and 6, followed by eventual loss of language
skills and loss of some or all hearing. Some children may never learn to speak. In the
syndrome's second stage, aggressive behavior, hyperactivity, profound dementia, and
irregular sleep may make children difficult to manage, particularly those who retain
normal physical strength. In the syndrome's last stage, children become increasingly
unsteady on their feet and most are unable to walk by age 10.
Thickened skin and mild changes in facial features, bone, and skeletal structures become
noticeable with age. Growth in height usually stops by age 10. Other problems may
include narrowing of the airway passage in the throat and enlargement of
the tonsils and adenoids, making it difficult to eat or swallow. Recurring respiratory
infections are common.
There are four distinct types of Sanfilippo syndrome, each caused by alteration of a
different enzyme needed to completely break down the heparan sulfate sugar chain. Little
clinical difference exists between these four types but symptoms appear most severe and
26. 26
seem to progress more quickly in children with type A. The average duration of
Sanfilippo syndrome is 8 to 10 years following onset of symptoms. Most persons with
MPS III live into their teenage years, and some live longer.
Sanfilippo A is the most severe of the MPS III disorders and is caused by the missing
or altered enzyme heparan N-sulfatase. Children with Sanfilippo A have the shortest
survival rate among those with the MPS III disorders.
Sanfilippo B is caused by the missing or deficient enzyme alpha-N-
acetylglucosaminidase.
Sanfilippo C results from the missing or altered enzyme acetyl-CoAlpha-
glucosaminide acetyltransferase.
Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-
sulfatase.
The incidence of Sanfilippo syndrome (for all four types combined) is about one in
70,000 births.
4. MPS IV
MPS IV, Morquio syndrome, is estimated to occur in 1 in 700,000 births. Its two
subtypes result from the missing or deficient enzymes galactose 6-sulfate sulfatase (Type
A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
Clinical features are similar in both types but appear milder in Morquio Type B. Onset is
between ages 1 and 3. Neurological complications include spinal nerve and nerve root
compression resulting from extreme, progressive skeletal changes, particularly in the ribs
and chest; conductive and/or neurosensitive loss of hearing and clouded corneas.
Intelligence is normal unless hydrocephalus develops and is not treated.
Physical growth slows generally around the age of 18 months, and stops completely by
the age of 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature
of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.
The bones that stabilize the connection between the head and neck can be malformed
(odontoid hypoplasia); in these cases, a surgical procedure called spinal cervical bone
fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are also
common. Children with the more severe form of Morquio syndrome may not live beyond
their twenties or thirties.
27. 27
5. MPS VI
Children with MPS VI, Maroteaux-Lamy syndrome, usually have normal intellectual
development but share many of the physical symptoms found in Hurler syndrome.
Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux-Lamy
syndrome has a variable spectrum of severe symptoms. Neurological complications
include clouded corneas, deafness, thickening of the dura (the membrane that surrounds
and protects the brain and spinal cord), and pain caused by compressed or traumatized
nerves and nerve roots.
Growth is normal at first but stops suddenly around age 8. By age 10 children have
developed a shortened trunk, crouched stance, and restricted joint movement. In more
severe cases, children also develop a protruding abdomen and forward-curving spine.
Skeletal changes (particularly in the pelvic region) are progressive and limit movement.
Many children also have umbilical or inguinal hernias. Nearly all children have some
form of heart disease, usually involving valve dysfunction.
An enzyme replacement therapy was tested on patients with MPS VI and was successful
in that it improved growth and joint movement. An experiment was then carried out to
see whether an injection of the missing enzyme into the hips would help the range of
motion and pain.
6. MPS VII
MPS VII, Sly syndrome, one of the least common forms of the mucopolysaccharidoses,
is estimated to occur in fewer than one in 250,000 births. The disorder is caused by
deficiency of the enzyme beta-glucuronidase. In its rarest form, Sly syndrome causes
children to be born with hydrops fetalis, in which extreme amounts of fluid are retained
in the body. Survival is usually a few months or less. Most children with Sly syndrome
are less severely affected. Neurological symptoms may include mild to moderate mental
retardation by age 3, communicating hydrocephalus, nerve entrapment, corneal clouding,
and some loss of peripheral and night vision. Other symptoms include short stature, some
skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or
inguinal hernias. Some patients may have repeated bouts of pneumonia during their first
years of life. Most children with Sly syndrome live into the teenage or young adult years.
28. 28
7. MPS IX
The disorder results from hyaluronidase deficiency. Symptoms included nodular soft-
tissue masses located around joints, with episodes of painful swelling of the masses and
pain that ended spontaneously within 3 days. Pelvic radiography showed multiple soft-
tissue masses and some bone erosion. Other traits included mild facial changes, acquired
short stature as seen in other MPS disorders, and normal joint movement and intelligence.
Causes
Mucopolysaccharidosis (MPS) is a group of diseases that are also classified as lysosomal
storage diseases. Lysosomes are compartments in the cell that contain various enzymes that
degrade (break down) molecules. In MPS, glycosaminoglycans or mucopolysaccharides are
not degraded.
Glycosaminoglycans are polysaccharides, or long-chain sugars, that normally help the growth
of bone, skin, tendons, connective tissues, and eyes. Glycosaminoglycans are also typically
found in the fluid that surrounds joints. When they are not broken down, glycosaminoglycans
may cause progressive cellular damage.
Normally, a gene (specific region of DNA) provides the body with instructions on how to
make an enzyme. There are 11 enzymes involved in the breakdown of glycosaminoglycans.
A deficiency or absence of any one of the enzymes may cause MPS, but only seven have
been found to occur in humans. The type of MPS is classified by the enzyme that is deficient.
The most likely pattern of inheritance is autosomal recessive although some types of MPS
may be inherited as an X-linked dominant trait.
MPS I: MPS I is caused by a deficiency of the enzyme alpha-L-iduronidase.
MPS II: MPS II is caused by a deficiency of the enzyme iduronate sulfatase. This is the only
form of MPS that is X-linked dominant.
MPS III: MPS III is caused by a deficiency of an enzyme that breaks down heparan sulfate.
There are four subtypes of MPS III, and they are types A, B, C, and D. Type A affects the
enzyme heparan N-sulfatase, B affects alpha-N-acetylglucosaminidase, C affects acetyl-CoA
alpha-glucosaminide acetyltransferase, and D affects N-acetylglucosamine 6-sulfatase.
29. 29
MPS IV: MPS IV is caused by a deficiency of an enzyme that breaks down keratin sulfate.
There are two subtypes of MPS IV. Type A affects the enzyme N-acetylgalactosamine 6-
sulfatase and type B affects beta-galactosidase.
MPS VI: MPS VI is caused by a deficiency of the enzyme N-acetylgalactosamine 4-
sulfatase.
MPS VII: MPS VII is caused by a deficiency of the enzyme beta-glucuronidase.
MPS IX: MPS IX is caused by a deficiency of the enzyme hyaluronidase.
Autosomal recessive inheritance: Most types of mucopolysaccharidosis (MPS) are
autosomal recessive disorders that are inherited at birth. MPS II or Hunter syndrome is the
only form of MPS that is X-linked dominant. In a recessive genetic disorder, a person must
inherit two copies of the genetic mutation (one copy from each parent) to develop MPS.
People who inherit a mutation from only one parent are called "carriers," and they may pass
the mutation to their children.
If only one parent has one copy of the mutated gene, then each child will have a 50% chance
of inheriting one mutated gene and also being a carrier. If both parents are carriers, each child
has a 25% chance of inheriting two mutated genes, a 50% chance of inheriting only one
mutation, and a 25% chance of inheriting neither of the mutations.
If one parent has MPS and the other parent does not carry the trait, then all of the children
will be carriers. If one parent has MPS and the other parent is a carrier, then each child has a
50% chance of having MPS or of being a carrier. If both parents have MPS, then all of their
children will also have MPS.
X-linked dominant inheritance: MPS II or Hunter syndrome is an X-linked dominant
inherited genetic condition. Normal individuals have two copies of most genes (one inherited
from the father and one from the mother). In a dominant genetic disorder, only one copy of a
certain gene needs to be defective for the condition to manifest. It has been shown that a
deficiency or mutation in the enzyme iduronate sulfatase, which is located on the X
chromosome, may cause MPS II.
Females have two copies of the X chromosome, but males have one X chromosome and one
Y chromosome. Males inherit an X chromosome from the mother and a Y chromosome from
the father, so a male can only inherit MPS II from the mother. A female needs to inherit two
30. 30
mutant copies to develop MPS II (one from each parent), whereas a male only needs to
inherit one mutant copy to develop the condition. MPS II is more common in males that
females. Females who inherit only one mutant copy are called "carriers." Females who are
carriers may exhibit some mild symptoms.
Random occurrence: It is unknown whether MPS can occur as the result of a spontaneous
genetic mutation with no family history of the disease.
Risk Factors
Mucopolysaccharidosis (MPS) is a disorder caused by genetic errors, or mutations, in any of
the genes that produce the enzymes responsible for glycosaminoglycan degradation. Because
MPS is inherited, a family history of the disorder is the primary risk factor for MPS.
Autosomal recessive inheritance: Most types of mucopolysaccharidosis (MPS) are inherited
as autosomal recessive traits. MPS II or Hunter syndrome is the only form of MPS that is X-
linked dominant. A person must inherit two copies of the genetic mutation (one copy from
each parent) to develop a recessive form of MPS. People who inherit a mutation from only
one parent are called "carriers," and they may pass the mutation to their children.
If only one parent has one copy of the mutated gene, then each child will have a 50% chance
of inheriting one mutated gene and also being a carrier. If both parents are carriers, each child
has a 25% chance of inheriting two mutated genes, a 50% chance of inheriting only one
mutation, and a 25% chance of inheriting neither of the mutations.
If one parent has MPS and the other parent does not carry the trait, then all of the children
will be carriers. If one parent has MPS and the other parent is a carrier, then each child has a
50% chance of having MPS and a 50% chance of being a carrier. If both parents have MPS,
then all of their children will also have MPS.
X-linked dominant inheritance: MPS II or Hunter syndrome is an X-linked dominant
inherited genetic condition. Normal individuals have two copies of most genes (one inherited
from the father and one from the mother). A person needs to inherit only one copy of the
defective gene to develop a dominant disease. A deficiency or mutation in the enzyme
iduronate sulfatase, which is located on the X chromosome, may cause MPS II.
Females have two copies of the X chromosome, but males have one X chromosome and one
Y chromosome. Males inherit an X chromosome from the mother and a Y chromosome from
31. 31
the father, so a male can only inherit MPS II from the mother. Therefore, a female needs to
inherit two mutant copies to develop MPS II (one from each parent), whereas a male only
needs to inherit one mutant copy to develop the condition. MPS II is more common in males
that females. Females who inherit only one mutant copy are called "carriers." Female carriers
may exhibit some mild symptoms.
Pathophysiology
Lysosomal malfunction occurs as a result of mutation in genes
As a result of which patient do not produce enough of one of 11 enzymes/ produce
defective enzymes
Enzymes are specialized for breaking down a complex sugar chain called
glycosoaminoglycans (formerly called mucopolysaccharides)
These complex form of Glycosomainoglycans cannot be consumed by body thus over
the time these glycosoaminoglycans collect in cells, blood and connective tissue
Results in permanent progressive cellular damage which
affects appearance, physical activities, interferes in abilities of organs and system
functioning and mental development
32. 32
Clinical features
clinical features may have varying degree of severity. These features may not be apparent at
birth but progress as deposition of glycosoaminoglycans increases and can affect bone,
structural structure, connective tissues and organs.
According to book In my patient
Neurological complications – pain, tremors and
impaired motor function (results from compression
of nerves or nerve roots in CNS and PNS)
✓
Fine tremors present throughout limbs
Normal intellect or impaired cognitivity Impaired cognitivity
Developmental delay ✓
Severe behavioral problems X
Hearing loss (conductivity/ neurosensitivity or
both)
✓
Communicating hydrocephalus (normal absorption
of CSF is blocked)
X
Coarse Facial Features (including flat Nasal bridge,
thick lips, and enlarged mouth and tongue)
✓
Corneal clouding ✓
Degeneration of retina ✓
Decreased visual acquity ✓
Short stature with disproportionate short trunk Short stature but proportionate trunk
Dysplasia (abnormal bone size and shape or other
skeletal abnormalities)
Present scilosis present in spine with
concavity towards right side
Thickened skin X
Enlarged organs such as hepatomegaly or
spleenomegaly, hernias, excessive hair growth
X
Short and claw like hands X
Progressive joint stiffness and carpal tunnel
syndrome
X
Recurrent respiratory infections (obstructive airway
diseases)
X
Heart disease- enlarged heart valves X
33. 33
Picture showing: skeletal abnormalities
left (scoliosis of spine with concavity towards right in lumbar region)
Right (pigeon shaped chest with pectus excavation bilateral)
Picture showing coarse facial feature flat nasal bridge, abnormal contour of head and dental
spacing
34. 34
Diagnosis
According to book In my patient
History taking ✓
Physical examination ✓
urine tests (excess mucopolysaccharides are
excreted in the urine)
✓
Enzyme assays (testing a variety of cells or
body fluids in culture for enzyme deficiency)
X
Prenatal diagnosis
using amniocentesis and chorionic villus
sampling
X
Xrays (skeletal deformities) ✓
USG abdomen (enlarged organs) X
CT scans (head) X
MRI head
Skeletal scans/ survey
EEG
Echocardiogram
Complete blood count
Biochemistry (sodium, potassium, urea,
creatinine)
Thyroid function tests
MSE (Mental Status Examination)
Echocardiogram ✓
35. 35
Investigations Results
Investigations Findings in my patient Normal values
Complete blood count:
TC
DC
- Polymorphs
- Lymphocytes
- Monocytes
- Eiosinophils
HB
Platelets
3800cu/mm
47
50
01
02
12.5 gm/dl
130,000cu/mm
3500-12,000 cu/mm
11.2-16.5 g/dL
150,000-400,000 cum/mm
Biochemistry
- Urea
- Creatinine
- Sodium
- Potassium
- Calcium
10 mmol/L
0.6 mmol/L
135 mEq/L
4.9 mEq/L
7.8 mEq/L
2.5–6.0 mmol/L
0.3–1.0 mmol/L
135–148 mmol/L
3.5–5.8 mmol/L
4.4–5.3 mEq/L
Thyroid function tests
- T3
- T4
- TSH
7.7
18
4.7
4.8–11.5
10–20
0.37–6.00
Bone survey
Xray hand and spine : NAD, bone age 6-8 years
Xray chest (AP and lumbar spine) : small round sclerotic changes in L1 vertebra, round,
kyphotic changes at L1, Small round sclerotic L1 vertebra with focal (developmental)
Xray wrist/ spine: appearance of epiphyseal plates of scaphoid, trapezium and trapezoid
suggesting bone age >6 years
No appearance of epiphyseal plate for distal ulnar suggesting bone age <8 years
Non appearance of epiphyseal plate for pisiform bone suggesting bone age of <11 years
therefore bone age of patient: 6-8 years
rest visible bone normal
36. 36
MRI: normal brain structure, prominent bilateral temporal horns
EEG: Abnormal EEG consistent with temporal lobe epilepsy
Opthalmmological Examination: bilateral corneal clouding and cherry red spot on retina
ENT examination: decreased hearing on both ears
Mental Status Examination: decreased intellectuality and impaired cognivity
COMPLICATIONS
Cervical spine myelopathy
Mental retardation
Valvular dysfunction,
Hypertension,
Congestive heart failure
Sudden cardiovascular collapse and death
Sleep apnea to severe respiratory compromise and cor pulmonale.
Significant loss of visual acuity. Glaucoma and chronic papilledema
Deafness
Middle ear infections,
deformity of the ossicles, and abnormalities of the inner ear.
Short stature
Joint stiffness
Hyperlaxity
Carpal tunnel syndrome
Hip dysplasia
Severe skeletal deformities
37. 37
Management
Currently there is no cure for these disorders. Medical care is directed at treating systemic
conditions and improving the person's quality of life. Physical therapy and daily exercise
may delay joint problems and improve the ability to move.
Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy
products has helped some individuals experiencing excessive mucus.
Surgery to remove tonsils and adenoids may improve breathing among affected individuals
with obstructive airway disorders and sleep apnea. Sleep studies can assess airway status and
the possible need for nighttime oxygen. Some patients may require surgical insertion of an
endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive
cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal
and other abnormalities. Corneal transplants may improve vision among patients with
significant corneal clouding.
There various clinical trials for the treatment of MPS I though currently, no specific
treatment exists for MPS I. Allogeneic bone marrow transplantation is the treatment of choice
for selected MPS IH patients, but the outcomes vary widely and the procedure has associated
risks, including increased morbidity and mortality. BMT, however, has been shown to slow
or reverse some of the features of the disease.
1. Enzyme replacement therapy (ERT) are currently in use or are being tested. Enzyme
replacement therapy has proven useful in reducing non-neurological symptoms and pain.
In both human studies recombinant iduronidase (rhIDUA) was given as a weekly infusion in
a dose of 100 units per kg per week (0.58 mg/kg/week).
An open label study in 10 patients14 showed that hepatosplenomegaly decreased
significantly in all patients, and the size of the liver was normal for body weight and age in
eight patients by 26 weeks. The rate of growth in height and weight increased by a mean of
85 and 131 percent, respectively, in the six prepubertal patients. The mean maximal range of
motion of shoulder flexion and elbow extension increased significantly. The number of
episodes of apnea and hypopnea during sleep decreased by 61 percent. New York Heart
Association functional class improved by one or two classes in all patients. Urinary
38. 38
glycosaminoglycan excretion decreased after 3 to 4 weeks of treatment; the mean reduction
was 63 percent of base-line values.
2. Haematopoetic Stem Cell Transplant
3. Bone marrow transplantation (BMT) and umbilical cord blood
transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses.
4. Other trials
Aldurazyme
100U/kg/week in 100 mls normal saline <20 kgs
100U/kg/week in 250 mls normal saline >20 kgs
The dosage should be rounded up or down to the nearest complete vial to prevent wastage.
Dosages may alternate from week to week to get as close to 200U/kg/2weeks without wasting
drug.
Infusion is initially given over 4 hours. Pre-medication with antihistamines and antipyretics at
prescriber’s discretion. The length of time of infusions can be slowly reduced after the 8th
infusion to 2 hours assuming there are no infusion associated reactions.
Follow up
Patients will be reviewed every 3 - 6 months in out-patients.
Each visit:
Clinical examination and vital signs
Urine glycosaminoglycans
Other baseline investigations may need to be repeated if clinically indicated
12 months (and annually thereafter):
All baseline investigations (with the exception of routine radiology) are repeated unless there
is a clinical need to repeat them more frequently.
In My patient:
No specific treatment was done in my patient for Mucopolysaccharidoses.
However for treatment of epilepsy patient was prescribed sodium valporate 200mg BD
39. 39
Drugs used in My Patient
Sodium valporate (encorate chrono) 200mg BD
DRUG PLAN
Sodium Valporate
It is used for all types of epilepsy alone or in combination. It increases Phenobarbital and
decreases phenobarbitone blood levels on simultaneous administration
Trade Name: Encorate Chrono
Generic Name: Valproic Acid
Group Name: Anti-convulsants
Mechanism of action
It acts by inhibiting GABA transaminase thus increasing the concentration of GABA, an
inhibitory transmitter in CNS
Indication
All form of epilepsy (grandma, focal, psychomotor) except absence seizure (petmal);
trigeminal neuralgia
Preparation
Tablet: 200mg, 400mg
syrup: 100mg/ml
Dosage
Initially 10mg/day orally, increasing slowly to 20-30mg/kg/day in divided doses
40. 40
Adverse effect
drowsiness, diplopia, vertigo, araxia, blurred vision, GI upset, skin reaction,
lymphadenopathy, eosinophilia, splenomegaly, agarnulocytosis, aplastic anemia, edema, liver
and kidney toxicity, cholestatic jaundice
Contraindication
A-V conduction defects, history of previous bone marrow depression
Precaution
Pregnancy, lactation, imapairment of hepatic function
Nursing implication
- Tell patient that drug may cause GI distress so should take drug with food at equally spaced
intervals
- Warn patients not to stop using drug abruptly
- Encourage patient to promptly report unusual bleeding, jaundice, ddark urone, pale stools
etc.
42. 42
Nursing Management
Assessment
a. History Taking: including patient’s chief complain, present health status, birth history,
family history, sign and symptoms
b. Physical Examination:
Presence of fine tremors in whole body. Decreased muscle mass and strength, progressive,
progressive deterioration of cognitivity, coarse facial features, presence of scoliosis in lumbar
region, pigeon shaped chest, dental spacing, impaired hearing, decreased visual acquity and
presence of corneal clouding
C .Investigations
Complete blood count (TC, DC, Hb, ESR), Urea, Creatinine, Xray, MRI, EEG,
Echocardiogram, MRI
Nursing Diagnosis
- Self care deficit related to inability to carryout ADLS / tremors
- Impaired physical mobility related to weakness of bones and muscles
- Risk for injury related to tremors and episodic seizure
- Diversional therapy deficient related to hospitalization
- Altered family process related to prognosis of disease
Planning / goal
the major goal is to prevent injury from seizure, encourage and assist patient on Activities Of
Daily Livings (ADLS), increase mobility and provide pshycological support to patient
Interventions
1. Self care deficit
- Assess client level to perform ADLS
- Assist client with daily activities
- Provide positive reinforcement during activity.
- Allow patient to perform tasks at his or her own rate
- Encourage independent activity as able and safe
43. 43
2. Impaired physical mobility
-Assess client extent of mobility
- Perform passive or active assistive ROM exercises to all extremities
- Encourage appropriate use of assistive devices
-Encourage physical activities
- Assist patient on ambulation
3. Risk for injury
-Assess patient for safety
- Provide crutch or stick for support while walking and climbing stairs
-Monitor seizure activities
- Keep side rails for safety of patient
4. Diversional therapy deficient
- Assess leisure activity preferences.
-Spend more time with patient
-seek help from family to relieve boredom and stimulate interest
- provide play material appropriate to his age group
5. Altered family process
-Provide psychological support to patient’s family
-provide knowledge regarding disease process and it’s prognosis
-Respond to all queries of patient family
-encourage to express verbalize their anxiety and feelings
44. 44
APPLICATION OF NURSING THEORY
While providing care to my patient, I applied Orem’s Theory of Nursing.
Orem’s Theory consists of
1. Theory of self care
2. Theory of self care deficit
3. Theory of Nursing System
My patient Biplav Dhital, 13years male was admitted on Medical ward
of Kanti Children’s Hospital with diagnosis of Mucopolysaccharidoses was alert and
conscious however he had difficulty carrying out his daily activities due to presence of fine
tremors throughout the body and generalized weakness, Thus, I applied Orem’s theory as it
appeared to be the best possible theory to meet my client’s need while providing nursing care.
Orem’s Theory of Nursing Care
Orem’s theory of nursing has three related theories
1. Theory of self care
2. Theory of self care deficit and
3. Theory of nursing system
Though my patient had difficulty carrying out his daily activities smoothly he however was
capable of doing it thus, I figured out theory of nursing system as most suitable theory for
caring my patient
Theory of nursing system.
It describes how the patients self care needs will be met by the nurse, patient and both
It identifies three classifications of nursing system to meet the self care requisites of the
patient
- Wholly compensatory system
- Partly compensatory system
- Supportive- educative system
Wholly compensatory nursing system is represented by a situation in which the individual is
unable to engage in self care actions requiring self directed and controlled ambulation and
manipulative movement or the medical prescription to refrain from such activities
45. 45
Person with these limitations are socially dependent on others for their continued existence
and wellbeing. Example patient in coma
Partly compensatory nursing system represented by a situation in which both nurse and
patient perform care measures or other action involving manipulative tasks or ambulation.
Either patient or nurse may have major role in performance of self care measures. Examples a
person who recently had surgery
Supportive- educative system: in this system the person is able to perform or can and should
learn to form required measures of externally or internally oriented therapeutic self care but
cannot do so without assistance. This is also known a supportive developmental system.
In this system patient is doing all of his self care. The patient’s requirements for help are
confined to decision makings behavior control, and acquiring knowledge and skills.
The nurse’s role is to promote the patient as a self care agent. Example chronic disease
patients like hypertension
I applied partly compensatory nursing theory by
- Providing morning care
- Medication
- Maintaining personal hygiene
- Providing safe environment
And I applied supportive educative theory by
- Providing information about disease condition
- Medication
- Complication and it’s prognosis
- Home based management of disease and possible risks
- Diet
- Follow up
- Psychological support to both parent and child
46. 46
Nursing Care Plan
Patient’s Identification
Name of Patient: Biplav Dhital
Age:13 years Sex: Male
Cast: Brahmin Religion: Hindu
Ward: Medical Bed No:343
IP No: 85169
Date Of Admission: 2070/4/11
Medical Diagnosis: Mucopolysaccharidoses
Assessment
My patient Biplav Dhital, 13years male was admitted on Medical ward of Kanti
Children’s Hospital with diagnosis of Mucopolysaccharidoses with chief complain of
generalized weakness since 1 year, progressive deterioration of school performance,
involuntary body movement for 1 and half hour 10 days prior to day of admission
Patient had history of involuntary body movement 1 episode for one and half an hour
followed by uprolling of eyes with deviation of mouth, drolling from mouth, stiffening
of body and titanic spasms of hands with epileptic features
patient was apparently well one year back, when he develop viral fever for 1 week and
was treated with amoxicillin 250mg and cetamol for one week
After this episode of fever patient’s general condition started to deteriorate with visible
symptoms.
Nursing Diagnosis
- Self care deficit related to inability to carryout ADLS / tremors
- Impaired physical mobility related to weakness of bones and muscles
- Risk for injury related to tremors and episodic seizure
- Diversional therapy deficient related to hospitalization
- Altered family process related to prognosis of disease
47. 47
S.N Date Assessment Nursing Diagnosis Nursing goal Intervention Rationale Evaluation
1. 4/13 Subjective data
―his body trebles
all the time so
his sister helps
him to hid
works‖
Objective data
Fine tremors all
over the body,
uncoordinated
and exaggerated
reflexes
Self care deficit
related to inability
to carryout ADLS /
tremors
-Assist patient
on Activities Of
Daily Livings
(ADLS)
-Assess client level to
perform ADLS
- Assist client with
daily activities
- Provide positive
reinforcement during
activity.
- Allow patient to
perform tasks at his or
her own rate
- Encourage
independent activity as
able and safe
-To obtain baseline
data and evaluate
patient’s ability
-To maintain hygiene
and promote comfort
- To encourage client
and build positive
attitude
- To maintain clients’
esteem
-To promote client’s
ability
Goal met
patient was
assisted on
ADLs and
encouraged to
carry out
activities
independently
48. 48
2 4/15 Subjective data
―he cannot walk
alone, he falls
whenever tries
walking alone‖
Objective data
Has difficulty
walking and
doesn’t walk
alone
Impaired physical
mobility related to
weakness of bones
and muscles
Increase
mobility within
ward by one
hour
-Assess client extent of
mobility
- Perform passive or
active assistive ROM
exercises to all
extremities
- Encourage
appropriate use of
assistive devices
-Encourage physical
activities
- Assist patient on
ambulation
-To obtain baseline
data to evaluate
condition of client
-To prevent from
atrophy of muscles
and prevent further
complications
-promotes ambulation
of patient
-Prevent
complications caused
by decreased physical
activities like
constipation
-To encourage and
promote physical
activities
Goal met
patient was
mobilized and
was
encouraged to
do physical
activities
whenever
possible.
49. 49
3 4/15 Subjective data
he cannot walk
alone, he falls
whenever tries
walking alone‖
Objective data
Has difficulty
walking and
doesn’t walk
alone
Risk for injury
related to tremors
and episodic
seizure
Prevent from
fall injuries
during hospital
stay i.e 7days
- Assess patient for
safety
- Provide crutch or
stick for support while
walking and climbing
stairs
-Monitor seizure
activities
- Keep side rails for
safety of patient
-To obtain baseline
data and evaluate
patients condition
- It provides support
while walking
-To prevent possible
injuries caused by
seizure
My goal was
met as patient
remained free
from injuries
during his
hospital stay
4 4/13-
4-21
Subjective data
―I feel bore
lying down in bd
all day‖
Objective data
Spent most of
his time sleeping
Diversional therapy
deficient related to
hospitalization
Patient will
express his
interest in using
leisure time
meaningfully
-Assess leisure activity
preferences.
-Spend more time with
patient
-seek help from family
to relieve boredom and
stimulate interest
- provide play material
appropriate to his age
-to figure out patient’s
likes and dislikes
- to accompany him
and relieve boredom
-to engage him in
different mind
diverting activities
-to promote mental
development of child
Goal was met
Patient
showed so
sign of anxiety
and boredom
during his
hospital stay
50. 50
group as per his
developmental need
5. 4/16 Subjective data
―he is my only
son, I wish he
would be fine
again‖
Objective data
Patient’s father
looked anxious
and sad
Altered family
process related to
prognosis of
disease
Reduce anxiety
and help family
cope with the
disease process
-Provide psychological
support to family
-provide knowledge
regarding disease
process and it’s
prognosis
-Respond to all queries
of patient family
-encourage to express
verbalize their anxiety
and feelings
-to reduce anxiety and
cope with the disease
process effectively
Goal was not
meet as the
patient was
diagnosed
with a genetic
disorder with
permanent
progressive
damage to
body system
51. 51
Diversional Therapy
Hospitalization is one of the most stressful situations in childhood thus I used play therapy in
my patient as diversional therapy
Play is an integral part of a child’s life. From birth play helps children to learn, to relate to
others and to have fun. Play can enhance a children’s development physically, emotionally,
intellectually and linguistically. When children or adolescents are admitted to hospital they
are at their most vulnerable. They are not only unwell, but they are also separated from their
friends, family and familiar surroundings which may lead to increased stress.
Play therapy helps by following ways:
enhance the children’s understanding of their treatment and illness;
serve as a diversion to keep a child’s mind off pain and medical procedures;
assist healing and rehabilitation;
help children regain confidence and self esteem
allow children to participate in familiar activities that they would normally engage in
at home, kindergarten or school;
reassure the child that his/her body is still functioning
so in my patient as a play therapy I gifted a ludo and taught him how to play it despite that I
also asked his parents to buy him a book so that he could read it in his leisure time.
52. 52
PROGRESS REPORT
When I first visited my case it was his second day of admission. He was admitted in
medical ward on 2070/4/11
Date Day Progress report Remarks
2070/4/13 2nd day of
admission
Vitals:
T-98ºf
p-80/m
R-26/m
Patient was well oriented to time,
place and person
Patient is in normal diet
Blood investigation sent (calcium)
2070/4/14 3rd day of
admission
Vitals:
T-96ºf
p-80/m
R-22/m
Patient was well oriented to time,
place and person
Patient is in normal diet
chest xray, spine and wrist xray
done to find out any skeletal
deformities
Serum Calcium report collected
Scilosis seen in
spine xray at L1
2070/4/15 4th day of
admission
Vitals:
T-99.2ºf
p-86/m
R-26/m
Patient went for othalmological
consultation
2070/4/16 5th day of
admission
Vitals:
T-98.6ºf
p-84/m
R-24/m
Patient went for ENT consultation
53. 53
and follow up on eye consultation
2070/4/17 6th day of
admission
Vitals:
T-101ºf
p-88/m
R-26/m
Skeletal survey done
Time taken for MRI and EEG
2070/4/18 7th day of
admission
Vitals:
T-97.2ºf
p-86/m
R-20/m
EEG done
2070/4/19 8th day of
admission
Vitals:
T-97.4ºf
p-84/m
R-28/m
MRI done
2070/4/20 10th day of
admission
Vitals:
T-97.6ºf
p-84/m
R-24/m
EEG report collected (temporal
lobe epilepsy seen)
Sodium valporate 200 mg tablet
BD started
Urine sample sent for GAG
(glycosoaminoglycans test)
Echocardiography done
2070/4/21 Day of
discharge
Vitals:
T-96.8ºf
p-78/m
R-20/m
MRI report collected
Diagnosis confirmed
54. 54
DISCHARGE TEACHING
My patient was diagnosed with genetic disorder which has no specific treatment and
its damage is permanent and progressive, however he also had an episode of epileptic
seizure which was later confirmed by EEG report as temporal lobe epilepsy. At the
time of discharge I gave discharge teaching to patient’s father focusing on
Follow up:
Patient was called on follow up to evaluate his neurological impairment at Neuro
OPD. I asked patient’s father to bring patient regularly on follow up at exact time
given by doctor
Safety:
As he was having continuous tremors and episodic seizure I advised visitor to take
good care of patient and never leave him alone if possible and make sure he is safe
when he has seizure episode. I also advised visitor to try not to wake patient up while
he is having seizure and bring him to hospital as soon as possible following seizure.
Diet:
I advised patient to eat balanced meal with adequately supplemented by
carbohydrates, vitamins, proteins and minerals. I encouraged to use locally available
and homemade dishes as much as possible
Medication:
I advised patient to keep compliance with medication and take medication regularly,
don’t quit medication without consulting doctor.
Take medication with food to decrease gastric upset
Sodium valporate 200 mg BD
55. 55
Prognosis
The symptoms of Scheie syndrome (MPS IS) include joint stiffness, aortic valve disease,
mild hepatosplenomegaly, and corneal clouding. Scheie patients have little or no neurological
involvement, are usually of normal stature and can have a normal life span although most
have increasing physical disability and many will die in middle age predominantly of cardiac
disease though a number many develop fatal cervical cord compression. The onset of
symptoms is usually after five years, with a diagnosis between 10 and 20 years.
56. 56
LESSON LEARNT
My patient Biplav Dhital, 13years male was admitted on Medical ward of Kanti
Children’s Hospital with diagnosis of Mucopolysaccharidoses on 2070/4/11 with chief
complain of generalized weakness since 1 year, progressive deterioration of school
performance, involuntary body movement for 1 and half hour 10 days prior to day
of admission
Patient had history of involuntary body movement 1 episode for one and half an hour
followed by uprolling of eyes with deviation of mouth, drolling from mouth, stiffening
of body and titanic spasms of hands with epileptic features
patient was apparently well one year back, when he develop viral fever for 1 week and
was treated with amoxicillin 250mg and cetamol for one week
After this episode of fever patient’s general condition started to deteriorate with visible
symptoms.
When I first came contact with the patient his diagnosis was still a query and it
followed various series of investigations as his features were quite distracting from
mainstream features of mucopolysaccharidoses though many features matched still
there were distinct features which didn’t match it’s criteria
During this course I got opportunity study a very rare genentic disease it’s various
types, clinical features and I got opportunity to compare it with my patient which
broadened my knowledge regarding this disease condition.
His physical features were distinct and because of which I gained keen interest on
going through this disease process thoroughly
Beside medical and pathological knowledge I also learnt to provide nursing care
based on a nursing theory to my patient, I got opportunity to use my theoretical
knowledge in pratical setting
57. 57
SUMMARY
During my clinical practicum for child health nursing at Kanti Children’s Hospital
Maharajgunj, as per our curriculum I did a case study on 13 years male boy with diagnosis of
mucopolysaccharidoses in medical ward on 2070/4/11 with chief complain of generalized
weakness since 1 year, progressive deterioration of school performance, involuntary body
movement for 1 and half hour 10 days prior to day of admission As his diagnosis was on
query following investigations was done Complete blood count including TC, DC, Hb,
platelets, urea,cretinie, calcium, Xrays, bone survey, Urine for GAG, EEG, Echocardiography
During this case study I got opportunity to gain through knowledge regarding disease process
and apply nursing theory to provide comprehensive and holistic nursing care to the patient.
I got opportunity to gain knowledge regarding the growth and development of adolescent
I did a physical assessment of patient, assessed client’s condition and find out his need.
I provided different formal and informal education to client and family during the hospital
stay regarding personal hygiene, diet.
As my patient was diagnosed with a genetic disorder I also provided psychological support to
client and family and at the time of discharge I provided discharge teaching on follow up,
medication, client’s safety measure, diet and home based management of disease. He was
discharged from hospital once diagnosis was confirmed after 11 days stay on 2070/4/21.
58. 58
References
Behrman R, Klieman R, Nelson’s Essential’s of Pediatrics, 6th
edition, Saunders
Hockenberry J Marilyn, Wilson D, wong’s nursing care of infants and children. 8th
edition, 2009,
Elsevier
Tuitui R, Pocket books of dugs, 4th
eedition,2008, Makali Publication
http://en.wikipedia.org/wiki/Lysosomal_storage_disease
http://emedicine.medscape.com/article/1182830-overview#aw2aab6b6
https://igm.jhmi.edu/personal/lysosomal-storage-diseases
http://www.ncbi.nlm.nih.gov/books/NBK6177/
http://www.usask.ca/cme/articles/telehealth/LSD%20Booklet.pdf
http://www.merckmanuals.com/professional/pediatrics/inherited_disorders_of_metabolism/lysosomal
_storage_disorders.html
http://en.wikipedia.org/wiki/Mucopolysaccharidosis
http://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i
http://emedicine.medscape.com/article/1258678-overview