Case Study on Mucopolysaccharidosis
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Case Study on Mucopolysaccharidosis

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It is a case study report of mucopolysaccharidosis, I did when I was posted in Kanti Children's hospital ...

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

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    Case Study on Mucopolysaccharidosis Case Study on Mucopolysaccharidosis Document Transcript

    • 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
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    • 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 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 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. 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 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 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 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 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 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 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. 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 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 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 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
    • 17
    • 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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.
    • 41
    • 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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