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Kocher-Debre-Semelaigne syndrome.
Sanwar Agrawal1, Prashant Thakur
1Pediatrics Department, Ekta institute of Child Health, Shantinagar, Raipur, Chhattisgarh, India. drsanwar50@gmail.com
BMJ Case Reports
|July 18, 2012
Summary
Kocher-Debré-Semelaigne syndrome is a rare condition causing severe growth failure and developmental delay in children. This case highlights hypothyroidism and muscle hypertrophy, successfully treated with levothyroxine hormone replacement therapy.
Area of Science:
- Pediatric Endocrinology
- Rare Genetic Syndromes
- Metabolic Disorders
Background:
- Kocher-Debré-Semelaigne syndrome is characterized by hypothyroidism and muscle hypertrophy.
- Severe growth failure and developmental delay are key presenting symptoms in affected children.
- Early diagnosis is crucial for effective management and improving patient outcomes.
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