Glycogen Storage Disorder in Children: Model Clinical Case and Viva Q&A

Clinical Case: Glycogen Storage Disorder in a Child

Case Presentation

A 6-month-old male infant is brought to the pediatric clinic by his parents with concerns of poor weight gain and enlarged abdomen. The parents report the following:

  • Difficulty feeding and frequent vomiting
  • Excessive sweating, especially during feedings
  • Lethargy and irritability between meals
  • No developmental delays noted

Physical Examination

  • Weight: 3rd percentile for age
  • Length: 25th percentile for age
  • Head circumference: 50th percentile for age
  • Marked hepatomegaly: liver edge palpable 4 cm below right costal margin
  • Distended abdomen with prominent veins
  • Hypotonia

Laboratory Findings

  • Fasting blood glucose: 45 mg/dL (hypoglycemia)
  • Elevated liver enzymes: AST 150 U/L, ALT 130 U/L
  • Elevated lactate: 4.5 mmol/L
  • Elevated triglycerides: 300 mg/dL
  • Elevated uric acid: 7.5 mg/dL

Diagnosis and Management

Based on the clinical presentation and laboratory findings, a diagnosis of Glycogen Storage Disease Type I (von Gierke's disease) is suspected. Further genetic testing confirms a mutation in the G6PC gene.

Management includes:

  1. Frequent feedings with complex carbohydrates
  2. Nocturnal gastric drip feeding
  3. Dietary restriction of fructose, galactose, and sucrose
  4. Supplementation with uncooked cornstarch
  5. Regular monitoring of blood glucose levels
  6. Long-term follow-up for potential complications


Clinical Presentations of Glycogen Storage Disorders in Children

1. Glycogen Storage Disease Type I (von Gierke's disease)

  • Severe fasting hypoglycemia
  • Hepatomegaly
  • Growth retardation
  • Lactic acidosis
  • Hyperuricemia
  • "Doll-like" facies

2. Glycogen Storage Disease Type II (Pompe's disease)

  • Infantile form: severe hypotonia, cardiomegaly, respiratory distress
  • Juvenile/adult form: progressive muscle weakness, respiratory insufficiency

3. Glycogen Storage Disease Type III (Cori's disease)

  • Hepatomegaly
  • Hypoglycemia (less severe than Type I)
  • Growth retardation
  • Progressive muscle weakness

4. Glycogen Storage Disease Type IV (Andersen's disease)

  • Progressive liver cirrhosis
  • Failure to thrive
  • Hypotonia
  • Cardiomyopathy in some cases

5. Glycogen Storage Disease Type V (McArdle's disease)

  • Exercise intolerance
  • Muscle cramps
  • Myoglobinuria after intense exercise

6. Glycogen Storage Disease Type VI (Hers' disease)

  • Mild hepatomegaly
  • Growth retardation
  • Mild fasting hypoglycemia

7. Glycogen Storage Disease Type IX

  • Hepatomegaly
  • Growth delay
  • Mild fasting ketotic hypoglycemia
  • Elevated liver enzymes

Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30


Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.



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