Hoffman Syndrome With the Classic Sign of Myoedema and an Unusual Finding of Systolic Heart Failure

A man in his 20s was diagnosed with Hoffman syndrome, characterized by calf muscle hypertrophy, proximal muscle weakness, muscle cramps, patchy hair loss, facial puffiness, and slurring of speech. Notably, he exhibited the rare neurological sign of myoedema and an unusual finding of systolic heart failure. Laboratory tests showed elevated thyroid-stimulating hormone and creatine kinase levels, and an echocardiogram revealed left ventricular systolic dysfunction. The condition, a rare pseudohypertrophic myopathy linked to severe and prolonged hypothyroidism, responded excellently to thyroid hormone replacement therapy.