Abstract

Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. It may be confused with primary muscle disorders, lest one is cautious enough to investigate for hypothyroidism. The striking clinical features, availability of a simple treatment and a good prognosis for the condition makes it worthwhile to report the case so that all practitioners be aware of the condition and its management.

Highlights

  • Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group

  • A diagnosis of KDSS was made on the basis of the above mentioned findings, and the child was started on levothyroxine supplementation, 50 μg/day, three months following which the child was found to be euthyroid [TSH = 2.7 IU/L, T3 = 75 ng/dL, and T4 = 8.6 μg/dL], and the symptoms of hypothyroidism had regressed but the muscular hypertrophy still persists after one year of thyroxine supplementation

  • The syndrome was initially reported by Emil Theodore Kocher in 1892, while the coexistence of the muscular pseudohypertrophy was emphasized by Robert Debre and Georges Semelaigne only later in 1935 [1]

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Summary

Introduction

Kocher-Debre-Semelaigne syndrome (KDSS) is a rare association of muscular pseudohypertrophy and long-standing moderate-to-severe hypothyroidism in the pediatric age group. The condition is rare in countries with screening programmes for hypothyroidism at birth. They are not uncommon in the countries where such routine screening programmes are not available, the diagnosis of hypothyroidism may be delayed—which may account for the higher incidence of the said condition

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