Kocher – Debre – Semelaigne syndrome

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 What is Kocher – Debre – Semelaigne syndrome?

·         Kocher–Debre–Semelaigne syndrome refers to pseudohypertrophy of calf muscles as a result of long-standing untreated congenital/juvenile hypothyroidism.

 

·         Pseudo hypertrophy is a result of accumulation of glycogen, glycosaminoglycans,and connective tissue in the muscle as a result of hypothyroidism.

 

·         Male are more prone.

 

·         These patients are more prone to develop severe and prolonged hypothyroidism.

 

·         H/O of consanguity is often present.

 

·         The level of creatine phosphokinase is mildly elevated and electromyogram shows a myopathic pattern.

·         The counterpart of Kocher–Debre–Semelaigne syndrome in adults is Hoffman’s syndrome.

 

·         Both these disorders are reversible with thyroxine therapy.


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