Hypothyroidism and muscle pseudohypertrophy: Kocher- debre semelaigne syndrome

Abstract

Long standing hypothyroidism without therapy leads to myopathy which is associated with proximal muscle weakness, fatigue, exertional pain, pseudohypertrophy due to myoedema, diminished deep tendon reflexes, and stiffness in muscles. Kocher-Debre-Semelaigne syndrome is a specific, rare form of hypothyroid myopathy, which causes hypertrophy of muscles. In this article, we emphasized hypothyroid myopathy by reporting a-13 4/12-year old girl with short stature who was diagnosed with hypothyroidism due to thyroid aplasia that caused pseudohypertrophy of muscles.