Kocher-Debre-Semelaigne syndrome: A case report

Abstract

Myopathy and pseudohypertrophy of muscles accompanied by acquired or congenital hypothyroidism is called Kocher-Debre-Semelaigne syndrome. Kocher-DebreSemelaigne syndrome is a rare disorder which is often presented by symmetrical proximal muscle weakness, accompanied by polymyositis, pseudohypertrophy in muscles, muscle rigidity, involuntary muscle contractions, exercise intolerance, myxedema, failure to thrive and neuromuscular findings like cretinism. In this case report, we present a 5-year-old girl with delayed diagnosis of hypothyroidism and poor compliance to treatment. 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 hypoactive deep tendon reflexes. It was emphasized that this syndrome should not to be overlooked in cases with pseudohypertrophy due to hypothyroidism.