“Kocher debre semelaigne syndrome” : a case report.

ABSTRACT

We report a case of 12 year old male child with Kocher-Debré-Semelaigne syndrome (KDSS) which is a rare clinical presentation of hypothyroidism associated with muscular pseudo-hypertrophy. The main differential diagnosis is Duchenne Muscular Dystrophy. Pseudomuscular hypertrophy of KDSS is an acquired type of myopathy associated with severe and long standing hypothyroidism and is reversible with thyroxine supplement.