A 31h-year-old girl was brought with the complaint that she refused to run and
walked very slowly. There was mild global delay in milestones. Examination showed a dull facies (Fig. 1); height of 75.5
cm (normal 91.7-104.5 cm); pseudohypertrophy of calf muscles (Fig. 2), and a very prominent delay in contraction and relaxation of the ankle reflex. TSH was> 50
µU/ml). She was started on Thyroxine 0.1 mg tablet, 1;2 daily. After 4 months the
muscles were soft, ankle reflex was normal, and she had gained 7 cm in height. After 2 years her height had increased by 24
cm and she was reported as being above aver- age in studies.
the dull facies.
Fig. 2. Pseudohypertrophy
Kocher-Debre-Semelaigne syndrome is characterized by pseudohypertrophy of
muscles secondary to longstanding hypothyroidism. Unlike the present case, it is
usually more common in mates and in severe cases. Management of the hypothyroidism is associated with regression of the pseudohypertrophy. The main differential diagnosis is Duchenne Muscular Dystrophy, in which the ankle reflex is usually
brisk, the TSH is normal, and there is no response to thyroxine. Confusion is common because both are more common in males, and can be associated with mental retardation.
Ohanya Mission Hospital,
Potta P.O., Thrissur Dt.,
Kerala 680 722,