Kocher-Debre-Semelaigne syndrome: A case report
PDF

Case report

Kocher-Debre-Semelaigne syndrome: A case report

J Behcet Uz Child Hosp 2012;2(3):182-186 DOI: 10.5222/buchd.2012.182
, , , ,
PDF
Permissions

Abstract

Myopathy and pseudohypertrophy in muscles accompanied by acquired or congenital hypothyroidism is called Kocher-Debre-Semelaigne syndrome. Kocher-Debre-Semelaigne syndrome is a rare disorder which is often presented by symmetrical proximal muscle weakness, accompanied by polymyositis, pseudohypertrophy in muscles, musle rigidity, involuntary muscle contractions, exercise intolerance, myxedema, failure to thrive and neuromuscular findings like cretinism. In this case we present a 5 year old girl with delayed diagnosis of hypothyroidism and poor treatment compliance. We suspected Kocher-Debre-Semelaigne syndrome when she developed difficulty in climbing stairs and walking. She had bilateral pseudohypertrophy of gastrocnemius and quadriceps muscles of the lower extremities, elevation in serum creatine kinase levels and physical examination findings relevant with myopathy as hipoaktiv deep tendon reflexis. It was emphasised that this syndrom not to be missed out in the cases with pseudohypertrophy due to hypothyroidism.

Keywords: child, myopathy, hypothroidism, pseudohypertrophy