All issues > Volume 16(10); 1973

Case Report

J Korean Pediatr Soc. 1973;16(10):787-793. Published online October 31, 1973.

A Case of Debre-Semelaigne Syndrome

Eui Hyun Jo¹, Jin Yung Ro¹, Dong Won Chun¹, Sang Jhoo Lee¹

¹Department of Pediatrics, College of Medicine, Kyung Hee University Seoul, Korea

Abstract

A case of Debre-Semelaigne syndrome, hypothyroidism with muscular hypertrophy, was presented. 4 year and 2 month old male patient was admitted with retarded growth, mental retardation, general muscular hypertrophy and muscular hypertonia. Thyroid function test revealed hypofunction and no visualization of thyroid gland was demons trated by scintiscan. Bone X-ray study showed retarded bone growth. Muscle biopsy from calf muscle showed no specfic findings. The patient was markedly improved after treatment with thyroid extract. The review of the literature was made briefly

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