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Hypothyroid Myopathy-A Rare Case from Paediatric Practice
Stanimira Elkina1, Ventsislava Stoyanova1, Irina Halvadzhiyan1
1Department of Pediatrics, Medical University-Pleven, 5100 Pleven, Bulgaria.
Children (Basel, Switzerland)
|April 27, 2024
Summary
Severe hypothyroid myopathy in children, known as Kocher-Debré-Semelaigne syndrome (KDSS), can be effectively treated. Hormone replacement therapy led to full recovery in a pubertal girl with KDSS, improving her mobility and overall health.
Area of Science:
- Pediatric Endocrinology
- Neuromuscular Disorders
- Metabolic Disorders
Background:
- Kocher-Debré-Semelaigne syndrome (KDSS) is a rare disorder characterized by muscular pseudohypertrophy and hypothyroidism.
- Severe hypothyroid myopathy is uncommon in childhood and often presents with significant mobility issues.
Observation:
- A pubertal girl presented with KDSS, severe myopathy, limited mobility, and pain in the lower body.
- The patient also exhibited metabolic syndrome, obesity, growth retardation, and learning difficulties.
Findings:
- Hormone replacement therapy with Levothyroxine was initiated for the patient.
- The treatment resulted in a complete recovery from myopathy and a marked improvement in her general condition.
Implications:
- This case highlights the importance of recognizing KDSS in pediatric patients with severe myopathy.
- Prompt diagnosis and adequate hormone replacement therapy can significantly improve outcomes for children with KDSS.
- Increased awareness of KDSS can enhance diagnostic accuracy and patient prognosis.
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