All issues > Volume 28(11); 1985

Case Report

J Korean Pediatr Soc. 1985;28(11):1130-1135. Published online November 30, 1985.

A Case of Kocher-Debre-Semelaigne Syndrome.

Saeng Gu Cho, Song Tae Kim, Young Youn Choi, Tai Ju Hwang

¹Department of Pediatrics, College of Medicine, Chonnam National University, Kwangju, Korea

Abstract

The authors experienced a 9-year-old male patient with Kocher-Decre-Semelaigne syndrome, hypothyroidism with generalized muscular hypertrophy. He was admitted with puffy face, abdominal distension, retarded growth, mental retardation, generalized muscular hypertrophy and hypertonia. Thyroid function test revealed hypofunction and thyroid gland was not visualized by 99raTc scintiscan. The stigmas of hypothyroidism and the muscular hypertrophy disappeared promptly after synthyroid replacement. Muscular biopsy from calf muscle showed no specific findings. The review of the literature was made briefly.

Keywords :Hypothyroidism; Muscular hypertrophy