Hoffmann syndrome: A rare form of myopathy

Hypothyroidism is a common endocrine disorder, which presents with varied nonspecific clinical manifestations in adults. However, a myopathic feature as an initial presentation of adult hypothyroidism is rare. Here, we report a case of Hoffmann syndrome in a 37-year-old male presenting with pseudohypertrophy, stiffness, weakness, and cramping of muscles which is known as Hoffmann syndrome. This condition is usually associated with other more typical features of hypothyroidism rather than as an isolated myopathy. A similar condition in children with more generalized muscular pseudohypertrophy in association with congenital hypothyroidism is known as Kocher–Debre–Semelaigne syndrome. Laboratory investigations in this hypothyroid myopathy show significantly elevated muscle enzymes and a nonspecific myopathic pattern on electrophysiological studies. This condition responds well to thyroid hormone replacement therapy with improvement in both clinical and biochemical parameters.