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A Case of Debre-Semelaigne Syndrome

Journal of the Korean Pediatric Society 1973;16(10):787-793.
Published online October 31, 1973.
A Case of Debre-Semelaigne Syndrome
Eui Hyun Jo, Jin Yung Ro, Dong Won Chun, Sang Jhoo Lee
Department of Pediatrics, College of Medicine, Kyung Hee University Seoul, Korea
Debre - Semelaigne Syndrome 의 1例 —筋肥厚를 隨伴한 甲狀腺 機能低下症
曺義鉉, 盧鎭英, 全東源, 李尙柱
慶熙大學校 醫科大學 小兒科學敎室
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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