Hoffmann syndrome: a case report

Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. We report a 39 year old male with primary hypothyroidism diagnosed at childhood and not on regular thyroxine therapy who presented with fatigue, cold intolerance, constipation, exertional breathlessness, progressive proximal muscle weakness and swelling of the legs for one year. Examination revealed pseudohypertrophy of calf muscles with marked symmetrical proximal upper and lower limb weakness. His TSH and Creatine phosphokinase (CPK) levels were significantly elevated and electromyography (EMG) was compatible with myopathic disorder. After institution of thyroxine therapy his weakness improved markedly and pseudohypertrophy regressed in two months. We report this case because of its rarity.