This document describes the case of a 2 year old boy presenting with vomiting, loose stools, and lethargy. He was found to have severe hypoglycemia and metabolic acidosis. He was admitted multiple times with a similar presentation. Critical lab samples showed elevated acylcarnitines, suggesting a fatty acid oxidation defect. The lab results, recurrent presentation, and family history are consistent with an inborn error of metabolism causing hypoglycemia.
case presentation of hypoglycemia, Approach to hypoglycemia, pathophysiology, differential diagnosis, treatment and management, comparison and case presentation
pediatrics emergency, hypoglycemia of infancy.
Glucose level can drop if:
There is too much insulin in the blood (hyperinsulinism). Insulin is a hormone that pulls glucose from the blood.
The baby is not producing enough glucose.
The baby's body is using more glucose than is being produced.
The baby is not able to feed enough to keep glucose level up.
Pediatric Coma
Introduction
Disorders of Consciousness
Coma Mimics
Etiologies
Evaluation
Brainstem Reflexes
Pediatric Glasgow Coma Scale
Management
Coma Sequelae
case presentation of hypoglycemia, Approach to hypoglycemia, pathophysiology, differential diagnosis, treatment and management, comparison and case presentation
pediatrics emergency, hypoglycemia of infancy.
Glucose level can drop if:
There is too much insulin in the blood (hyperinsulinism). Insulin is a hormone that pulls glucose from the blood.
The baby is not producing enough glucose.
The baby's body is using more glucose than is being produced.
The baby is not able to feed enough to keep glucose level up.
Pediatric Coma
Introduction
Disorders of Consciousness
Coma Mimics
Etiologies
Evaluation
Brainstem Reflexes
Pediatric Glasgow Coma Scale
Management
Coma Sequelae
Failure to thrive in neonates and infants + pediatric case.pptxclaviclebrown44
Hello, I’m Dr. Mariam Abayomi, an Intern doctor in Jamaica, passionate about promoting health and wellbeing. I invite you to explore my latest presentation on Failure to Thrive (FTT), a condition that can significantly impact a child’s growth and development.
In this presentation, you'll learn about:
- Understanding FTT: What is Failure to Thrive? We’ll break down the medical definition, common causes, and symptoms to watch for.
- Case Study Insight: Meet [Child’s Name], a [age]-month-old who struggled with FTT. Through their story, we’ll explore the real-life application of diagnosing and managing this condition.
- Diagnostic Approaches: From growth charts to lab tests, discover the essential tools and methods used to identify FTT.
- Management and Treatment: Learn about the multidisciplinary strategies employed to help children with FTT thrive, including nutritional support, medical treatments, and family education.
- Key Takeaways: Highlighting the importance of early detection, comprehensive care, and ongoing monitoring to ensure the best outcomes for children.
By following me on social media @HealthInspire, you’ll get updates, tips, and insights into health and wellbeing. Whether you’re a healthcare professional, a student, or a parent, my goal is to provide you with reliable information, support, and a bit of humor to navigate the world of health and wellness.
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Metabolic acidosis is a serious electrolyte disorder characterized by an imbalance in the body's acid-base balance. Metabolic acidosis has three main root causes: increased acid production, loss of bicarbonate, and a reduced ability of the kidneys to excrete excess acids.
Metabolic acidosis can be caused by acid accumulation due to increased acid production or acid ingestion; decreased acid excretion; or GI or renal bicarbonate (HCO3−) loss.
The diagnosis is made by evaluating serum electrolytes and ABGs. A low serum HCO3- and a pH of less than 7.40 upon ABG analysis confirm metabolic acidosis. The anion gap (AG) should be calculated to help with the differential diagnosis of the metabolic acidosis and to diagnose mixed disorders.
this is a case study om metabolic acidosis prepared for my academic purpose .
please comment
thank u......
One of lectures given during our Port said fifth neonatology conference, 23-24 October 2014 given by dr Dr El Sayed Khalaf MD Pediatrics,Consultant Pediatric and Neonatology
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
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This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
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TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
Adv. biopharm. APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMSAkankshaAshtankar
MIP 201T & MPH 202T
ADVANCED BIOPHARMACEUTICS & PHARMACOKINETICS : UNIT 5
APPLICATION OF PHARMACOKINETICS : TARGETED DRUG DELIVERY SYSTEMS By - AKANKSHA ASHTANKAR
CDSCO and Phamacovigilance {Regulatory body in India}NEHA GUPTA
The Central Drugs Standard Control Organization (CDSCO) is India's national regulatory body for pharmaceuticals and medical devices. Operating under the Directorate General of Health Services, Ministry of Health & Family Welfare, Government of India, the CDSCO is responsible for approving new drugs, conducting clinical trials, setting standards for drugs, controlling the quality of imported drugs, and coordinating the activities of State Drug Control Organizations by providing expert advice.
Pharmacovigilance, on the other hand, is the science and activities related to the detection, assessment, understanding, and prevention of adverse effects or any other drug-related problems. The primary aim of pharmacovigilance is to ensure the safety and efficacy of medicines, thereby protecting public health.
In India, pharmacovigilance activities are monitored by the Pharmacovigilance Programme of India (PvPI), which works closely with CDSCO to collect, analyze, and act upon data regarding adverse drug reactions (ADRs). Together, they play a critical role in ensuring that the benefits of drugs outweigh their risks, maintaining high standards of patient safety, and promoting the rational use of medicines.
Basavarajeeyam is a Sreshta Sangraha grantha (Compiled book ), written by Neelkanta kotturu Basavaraja Virachita. It contains 25 Prakaranas, First 24 Chapters related to Rogas& 25th to Rasadravyas.
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
5. SYSTEMIC EXAM:
CNS: lethargic, no neck stiffness , negative kernig and brudzinski ,
closed fontanelle, no focal deficit
CVS: S1+S2+No murmur, no gallop or muffled heart sounds
+ weak peripheral pulses
GIT: Soft, No hepatosplenomegaly, no mass, non-tender
Chest: Bilateral equal air entry, no crackles
ENT: Normal throat and ears
7. SEVERITY:
Respiratory Distress Vs. Respiratory failure
Hypovolemic shock; Compensated Shock
DIFFERENTIAL DIAGNOSIS:
Acute Gastroenteritis with severe dehydration
Sepsis
Causes of Anion gap Metabolic Acidosis
Inborn error of metabolism
8.
9. TREATMENT GIVEN IN EMERGENCY :
IV 0.9% NaCl Boluses
IV D10% Bolus
Working Diagnosis:
•Gastroenteritis and Severe Dehydration
10. Past medical history:
No prior hospitalization or a severe presentation in ER
Patient sometime looks sweaty at night and wakes up hungry.
Birth History: Term , NVD,
Admitted in NICU after birth due to hypoglycemia for few hours , Birth Weight: 3.5kg
(mother has no reports)
Vaccination: Current
Nutritional: On regular family diet, high amount of milk intake.
Development: Age -appropriate
Family history:
one of two siblings.
Consanguineous marriage , both parents are well
No history of miscarriage, still born or developmental delay, significant Metabolic
disorder in family
11. SUMMARY:
2 year old boy
Vomiting/loose stool and lethargy for 2 days
Severe dehydration with hypoglycemia
CBG with Metabolic acidosis
No significant past medical/family history.
Patient sometime looks sweaty at night and wakes up hungry.
12. INVESTIGATIONS:
Labs: Patient value
CBC
WBC 33.1 x 10^3 ABN:22.9
HGB 9.3 g/dl
PLT 587 x 10^3
CRP <5 mg/L
LFTs
Albumin 4.9 g/dL
ALP 283U/L
ALAT 181 U/L
T. Bil 0.1 mg/dL
Total Protein 8.3 g/dL
PT 12.5 secs
APTT 32.4 secs
INR 1.39
13. Labs: Patient value Reference Value
Urea and
electrolytes
Sodium 135 135-145
Potassium 4.1 3.5-5.5
Chloride 106 ?
HCO3 5 18-25
Urea 31 ?
creatinine 0.3 ?
CPK 123 0-228
14. Labs: Patient value
Blood Culture No growth
Urine
Routine
WBC: 0-3
RBC: Nil
Culture No growth
Stool
Routine No Pus Cells
No RBCs
No Ova And Parasites
Culture No Growth
Rota &
Adenovirus
Negative
Ammonia 43 umol/L , ref: 17-68
INVESTIGATIONS:
15. COURSE IN THE HOSPITAL:
Day 1:
•Admitted to ICU
•IV NaHCO3
•IV D10% +0.45%NaCl
•IV Ceftriaxone
•Clinical Status: Markedly
Improved
• After 24hours in ICU:
• CBG: pH: 7.4, pCO2: 32, HCO3:
20.1
• Lac:2.7 Glu: 85mg/dl
16. Day 2 & 3 :
Shifted to ward
Full Oral ,Vitally stable, had no episode of fever
Discharged with instructions
17. Review of Differential Diagnosis:
Acute Gastroenteritis with severe dehydration
Sepsis (unlikely)
Causes of Anion gap Metabolic Acidosis (tissue hypoxia)
Inborn error of metabolism
18. Since then Child was admitted in Hospital for a total of five
times in one year with Identical picture:
Chief complaints
Blood gas picture : Low blood glucose and metabolic acidosis
Course in hospital
PROGRESS
19. 2ND EPISODE:
Complaints: runny nose and cough ,fever and vomiting.
hypocount: 35mg/dl in ER
CBG showed severe Metabolic Acidosis
Critical Sample was taken
20. Indications for critical Sample :
1. Recurrent hypoglycemia
2. Not explained by history and physical
examination
21. HOW TO COLLECT THE SAMPLE:
1. Gray-top tube :Glucose, lactate,
2. Red -top tube : Insulin, GH, cortisol,
3. Filter Paper: Acylcarnitine profile
4. Dark green-top tube : FFA,
5. Lavender-top tube : C-peptide from 2 mL in a lavender-top tube (0.5 mL
minimum).
6. Send next voided urine for quantitative determination of organic acids,
reducing substances and ketones
22. CRITICAL SAMPLE IN LH
Blood
FFA
Insulin
C-peptide
Growth Hormone
Cortisol
Lactate
Acylcarnitine on filter
paper
Ammonia
Urine
Urinary Ketones
Urinary Organic acids
Urinary Reducing Substances
31. GLUCONEOGENESIS DEFECTS
1. Glu. 6 Phosphatase
2. Fru. 1.6
Diphoshaphatase
3. PEP Cabroxykinase
Gluconeo GENESIS Hypoglycemia
Pathogenesis
FFA Raised
Insulin Low
C-peptide Low
Growth
Hormone
High
Cortisol High
Lactate High
Acylcarnitine Normal
Urinary
Ketones
High
Urinary
Organic Acids
Absent
Lactate
Alanine
Glycerol 3 P
32. GLYCOGENOLYSIS DEFECT
0, Gly. Synthase
3, Debranching Enzy.
6, Liver Phophorylase Enzy.
9, Phosphorylase kinase
Glucose Release Hypoglycemia
Pathogenesis
FFA Raised
Insulin Low
C-peptide low
Growth
Hormone
High
Cortisol High
Lactate Normal to High
Acylcarnitine Normal
Urinary
Ketones
high
Urinary
Organic Acids
Absent
Ketone
production
33. FATTY ACID OXIDATION
DEFECTS
Acyl CoA
Dehydrogenase
Beta oxidation
of FA
Hypoglycemia
Pathogenesis
FFA High
Insulin Low
C-peptide low
Growth Hormone High
Cortisol High
Lactate Normal to
High
Total carnitines Total
Acylcarnitines Acylcarnitine
Urinary Ketones Low
Urinary Organic
Acids
Dicarboxylic
acids
Ketone
production
34. KETOGENESIS DEFECTS
HMG CoA Lyase
HMG CoA
synthase
Ketone
production
Hypoglycemia
Pathogenesis
Urinary Ketones Low
Urinary Organic
Acids
Dicarboxylic
acids
FFA High
Insulin Low
C-peptide low
Growth Hormone High
Cortisol High
Lactate Normal to
High
Total carnitines Total
Acylcarnitines Acylcarnitine
35. KETOLYSIS DEFECTS
SCOT def.
Beta Ketothiolase
deficiency
Ketone
utilization
Hypoglycemia
Pathogenesis
FFA High
Insulin Low
C-peptide low
Growth Hormone High
Cortisol High
Lactate Normal
acylcarnitines -
Urinary Ketones High
Urinary Organic
Acids
-
37. HISTORY:
History Of presenting
Illness
Age: • Neonate to 2 years of life: MC age of
Presentation
• Toddlers or older children: Toxin intake
Trigger: • Period Fasting
Specific Foods • Milk products
• fruit juices
Past Medical History
• Prior ER visit or Hospitalizations: labelled
as seizure disorders or other disorders.
Birth History
• Antenatal Preeclampsia , GDM
• Natal LGA
• Postnatal Hypoxic injury at
birth
Family history
• Unexplained deaths in family
• Affected members in family
Developmental Milestones • Appropriate for age
38. PHYSICAL EXAM:
General Examination:
Dysmorphic features:
Mid facial defects
Growth Charts :
Failure to thrive
Short stature
Neonate: Macrosomia
Vital Signs
RR: Deep rapid breathing
Temperature: Hypothermia or fever
Systemic Examination:
GIT: Hepatomegaly
Umbilical hernia or omhpalocele
Skin : Hyperpigmentation
Eye: Cataract
Genitalia Ambiguous genitalia
46. HYPOGLYCEMIA
• Definition
• Clinical Features
• Pathophysiology
• Differential diagnosis
• History and PE
• Critical sample
• LH approach
• Management
47. CRITICAL SAMPLE OF THE PATIENT
Blood Patient values Normal range
FFA Not done? -
Insulin 3.2 4.0-16
C-peptide 1.8 1.8-4.7
Growth Hormone 5.2 0-3
Cortisol 1681 69-328
Lactate 11.4 0.5-2.2
Acylcarnitine on
filter paper
Increased Level of all
Acylcarnitine
Total and Free
Carnitines
70.4
39.4
35.0-84.0
24.0-63.0
48. CRITICAL SAMPLE IN LH
Urine Patient Values
Urinary Ketones 3+
Urinary Organic acids Lactic Acids
Urinary Reducing Substances +Glucose (taken after glucose
infusion)
Urinary Amino Acids All in normal range except
borderline increased levels of
Alanine, Valine , Phenylalanine
and Leucine
50. 2 year old boy
Vomiting/loose stool and lethargy for 2
days
Admitted 5 times with Severe
dehydration & hypoglycemia
No significant past medical/family
history.
Patient sometime looks sweaty at
night and wakes up hungry.
Labs:
1. CBG: Metabolic acidosis with
hypoglycemia
2. Critical Sample: Lactic acidosis , rest of
profile normal
3. Urinary tests done: Ketone 3+
4. Other tests: CPK: Normal , TFTs:
Normal
Case : Ketotic Hypoglycemia for evaluation
Vomiting: Several times a day , normal amount, non bilious, non bloody. Not associated with coughing or food intake
Loose stools: several times a day, watery, normal amount, non bloody
Lethargic: Since morning of the presentation to ER.
CNS: Meningitis , encephalitis ( fever, irritability, petechial rash, convulsions or abnormal movements)
GIT: Intussception ( bouts of abdominal pain or irritability), appendicitis( fever)
Respiratory: pneumonia ( cough or difficulty breathing)
Kidney ,Circulation: UTI (fever , no irritability on passing urine, no abdominal pain ), Urinary output
Viral : (URTI , rash, anyone else is sick at home, Day care )
Ingestions: No observed toxin ingestion
Chronicity : was he well before this event ( IBD)
Travel History: non regional microbes etiology ( Hep A , amoeba )
No history of : Fever ,Rash ,Irritability , abdominal pain ,Cough or Breathing difficulty, Convulsions or Abnormal Movements
urinary habits (past 2 days urine reduced) circulation, perfusion status
Was completely well prior to this episode
Came Back from Pakistan 2 days ago.
respiratory distress vs shock
Vitals and general Examination
Respiratory distress vs failure
Compensated shock
Summarize
CNS: reduced cerebral perfusion or hypoglycemia
CVS: no signs of congestive heart failure
Chest: no pulmonary edema
GIT: soft, no hepatomegaly, non tender ( ?no hepatitis,? no appendicitis? No pyelonephritis )
ENT: no focus of infection ( otitis media or tonsillitis)
Skin: no rash of sepsis or viral exanthem,
Acidosis , low co2 and low HCO3 =Metabolic Acidosis
Lactic Acidosis
Hypoglycemia:
Mention hypocount and emphasize on hypoglycemia
Partially compensated metabolic acidosis
The causes of anion Gap acidosis most relevant here are
IV antibiotics??????
Emphasoze low glu
Birth history: GDM??? Birthweight???
Developmental :
Gross Motor: He is able to run and walk well,
Fine motor: Likes to scribble,
Social and Language: Very playful and interactive with other kids with able to say few words
Revised History:
Mother reveals its common for him to have profuse sweating overnight.
FBC:
WBC: Raised ( infection or ? dehydration )
PLT: thrombocytosis ( DIC would low plt) ( high may be dehydration)
LFTs: normal , ALAT raised
Coagulation Profile: normal
Highlight positive finding
Blood Culture: Remained no growth
Differential Diagnosis: Support for Infection being the sole cause of the presentation became weaker and idea of IEM became more valid.
Admitted to ICU in view of low GCS and clinical signs and symptoms
Clinical Status: Markedly Improved in 24hours with improvement in vitals, consciousness & activity levels
CBG: showed marked improvement in pH , HCO3 .
Discharged: With instructions on when to come to ER , diagnosis : gastroenteritis and severe dehydration
and avoid fasting for more than 4-5 hours , have complex carbohydrate overnight and come back for follow up in clinic.
With an average gap of 1-2 months
Chief complaints: history of flu like symptoms, vomiting , reduced oral intake,
Blood Gas Picture: Metabolic acidosis, remarkable Lactic Acidosis
Course In Hospital : Rapid improvement with correction of dehydration , hypoglycemia, HCO3. with no residual symptoms at time of discharge.
2nd episode: 4 months later with complaints of: Runny nose, cough, vomiting and fever 1 day
CBG: was very similar to the one on first presentation with severe metabolic acidosis and lactic acidosis.
Recurrent Hypoglycemic Episode: with presentation not explaining the extent of lab abnormalities: critical sample was taken in ER prior to glucose infusion
With Some Individual variation this is the general Hierarchy of clinical signs and symptoms
70-50: Counter regulatory hormones starts acting (catecholamine, glucagon , cortisol and Growth Hormones)
55-35: Autonomic Symptoms: Tachycardia, Tremulousness, Brisk moro reflex
50-25: Neuroglycopenic symptoms: (this is when brain starts receiving less supply) poor feeding , apneic episodes, seizures
40-20 : lethargy
35-5 : Coma and death
Surprisingly children especially young children: May remain asymptomatic until glucose falls very low
Whipple triad:
Low blood sugar, presence of symptoms and resolution of symptoms with administration of glucose.
Hypoglycemia inhibits insulin which automatically promotes glycogenolysis and gluconeogenesis
Activates Counter-regulatory Enzymes:
Glucagon and epinephrine: Glycogenolysis in liver and Muscle
Epinephrine: Induces Lipolysis thereby providing glycerol for gluconeogenesis and FFA for ketongenesis , sparing glucose for brain utilization
Growth hormone: Decreases peripheral sensitivity of insulin receptors , sparing peripheral glucose utilization, increasing blood glucose
Cortisol: Mobilizes amino acids namely alanine from muscle for gluconeogenesis
Infants: don’t have enough glycogen stores in liver ,lipid stores in fat and muscle mass ,their hormonal and enzymatic activity favors constant glucose formation.
Older infants and children:
Post feeding (6-12 hours) : Glucose is maintained by glycogenolysis (glucagon and epinephrine) which raise blood glucose to be used by RBCS and Brain cells.
Beyond 6-12hours gluconeogenesis (glucagon and cortisol) must be activated, the source of carbon which is mainly alanine from muscle cells (followed by Glycerol and lactate)
gluconeogenesis can be primary pathway for several day depending on (muscle mass) beyond which lipolysis must be induced ( glucagon, epinephrine and cortisol ) and body reduces gluconeogenesis and uses fatty acid derived products such as Ketone bodies for use.
At this point brain adopts to use ketone bodies and spares glucose for RBCs
Pathology other than IEM causing
excessive utilization is : IODM, sepsis and hypoglycemia cases in LH examples…, Post surgical dumping syndrome
Underproduction: Inadequate stores: SGA, LBW, IUGR babies ( no glycogen stores , no fat stores)
Hormonal Defects: Pan-hypopituitarism , Hypocortisolemia: CAH 21BOH Def. cases in LH examples ,Primary adrenal insufficiency: eg addisons disease cases in LH examples , Growth hormone deficiency
High level of insulin due to insulinomas, can be iatrogenic cause
Lactate: depending on liver damage
Most common MCAD
Lactate: Normal to high (depending on liver damage and extent of body needs)
Urinary Organic acid: Dicarboxylic acids (medium chain)
As acylcarnitines are not being recycled total carnitine decrease, acylcarnitine accumulates C8-C10
Reduced production results in increase utilization of glucose results in hypoglycemia
FFA: back up of cycle results in spilling of FFA in blood
Lactate: Normal to high depending on extent of liver damage and its ability to clear it and body needs
Carnitine: backing up of the entire cycle reduces the recycling of carnitine results in low total carnitines and raised acylcarnitines
Urine organic Acids: backing up of substrated FA accumulates appears as raised dicarboxylic acids in urine
Reduced peripheral utilization results in increase glucose utilization even though ketones are high .
SCOT : succinyl CoA Transferase deficiency
Beta-Ketothiolase deficiency:
Normal Ammonia levels
Pathology other than IEM causing
excessive utilization is : IODM, sepsis, Post surgical dumping syndrome
Underproduction: Inadequate stores: SGA, LBW, IUGR babies
Hormonal Defects: Pan-hypopituitarism , Hypocortisolemia: CAH 21BOH Def. ,Primary adrenal insufficiency, Growth hormone deficiency
A) HOPI
1. Neonate to 2 years of life: Most common presentation age for IEM
2. Toddlers or older children: Toxin intake, Such as Ackee fruit , Aspirin, Beta blockers, quinines, Sulfonylureas
3. Period of Fasting: which may have precipitated the attack , most neonatal period if symptoms occur shortly after meal then hyperinsulinemia? If 6hours or so consider gluconeogenesis, the period may vary between children depending on severity and the presence of disease status.
4. a. Since Ingestion of Milk products: galactosemias
b. Since ingestion of fruit juices: Fructose Intolerance
B) Past Medical History : which can be attributed to hypoglycemia
C) Birth History:
D) Pre-eclampsia : IUGR less fat stores, GDM: neonate with transient hyperinsulinemia , LGA: is retrospectively telling you it is IODM,
All of these tend to be transient.
HIE: panhypopituitarism hypoglycemia and other symptoms.
E) Family history :
Affected members in family such as: developmental delay, mental retardation, movement disorder, seizure disorder.
F) Developmenatal Milestones: significant failure in attaining motor, language and cognitive milestones is feature of several IEM. Which may not be as much apparent if hypoglycemia due to hormonal insufficiencies
General Examination: Midline facial Defects: Single central incisor, cleft lip and palate,holoprosencephayl, micro-phallus, undescended testicles
Growth Charts:
FTT: Organic Acidemia, GSD, Gluconeogenesis defects,
Short stature: Panhypopituitarism, GH deficiency.
Underweight: Idiopathic Ketotic hypoglycemia
Neonate: Macrosomia Hyperinsulinism
Vital Signs: look for all signs RR: Deep rapid breathing: Acidosis, Temperature: Low sign of hypoglycemia, High may actually be the Infectious trigger rather than simple infection.
Systemic Examination:
GIT: hepatomegaly GSD, Gluconeogenesis defects,
if we are talking about a macrosomic neonate then Umbilical hernia: may point towards Beckwith wiedieman Syndrome along with other abnormalities such macroglossia , hemihypertrophy, ear crease
Skin: Hyperpigmentation of gums, lips, crease of hand, sun exposed area, Primary adrenal Insufficiency or Cotisol Insufficiency: Addison’s disease
EYE: cataract: galactosemia
Genitalia: ambiguous genitalia in Female along with characteristic electrolyte abnormalities the possibility of CAH 21BOH Def.
Galactosemia: Age of onset of symptoms is since neonatal period with hepatomegaly
Fructose Intolerance: With addition of fructose in diet this would be a baby usually during weaning period
Tyrosinemia:
Hyperinsulinemia:
Such as IODM, LGA, Beckwith wiedieman Syndrome , Dumping syndrome, Insulinomas
FA Oxidation Defects:
Growth hormone Deficiency:
Isolated : young child probably hypoglycemia will be the only symptom and only later/ Older child: Short stature on P.E
Pan hypopituitarism: Microphallus, Midline facial defects, later short stature
Idiopathic Ketotic Hypoglycemia: is diagnosis of exclusion and has all the normal physiologic findings. He just doesn’t have the capacity to fast to duration that’s considered normal for his age.
GSD: 0,1,3,6,9
Gluconeogenesis defects: , Phosphoenolpyruvate carboxykinase, Fructose 1,6 diphosphatase
For GSD and GNG , you must see the LFTs, CBC, UA, Cholesterol levels, TGL, Creatinine Kinase
Organic acidemia: MSUD, Propionic acidemia, Methylmalonic acidemia
Ketolysis Defect: SCOT deficiency,
Urinary Organicemia and acylcarnitine profile
Oral Trial: 100ml juice
IV D10%: 2ml/kg
IM Glucagon: <25kg: 0.5 mg >25kg: 1mg
Conscious and recheck in 15mins
Commence infusion: requirement varies by age : between 4-8mg/kg/min
<50: adjust infusion and consider steroids
>50: Introduce oral
Thyrotoxicosis related lactic acidosis
Hypothyroidism in newborns and neonates
Patient sometimes look sweaty at night and wakes up hungry which shows that he seems to have hypoglycemia after certain duration of fasting without any active disease process