| A Case of Congenital Generalized Lipodystrophy. |
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Woon Sik Kim, Kye Tae Kim, Don Hee Ahn, Keun Chan Sohn |
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Department of Pediatrics, National Medical Center, Seoul, Korea |
| 先天性 全身 脂肪異營養症의 1例 |
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金云植, 金癸泰, 安敦姬, 孫槿贊 |
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國立醫療院 小兒科 |
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| Abstract |
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A 4 year and 2 months old girl with peculiar appearance and abdominal protuberance was prese-nted. She was the 2nd full term product of a healthy, 37-year-old mother. Any history of neonatal problems couldn’t be elicited. At 1 month of age his mother began to notice loss of subcutaneous fat with prominent musculature. At 2 months of age he was first seen by a physician because of febrile seizure, when peculiar appearance was mentioned. But his general growth and development：seemed to be normal. Around 1 year of age his gaunt appearance with prominent musculature became more evident. Gradual abdominal distention and frequent nasal obstruction with thick nasal discharge began to be noticed. On physical examination there noted generalized loss of subcutaneous fat with abundant coarse- scaly hairs, dark pigmented skin over the neck, both axillae and inguinal regions, hypertrichosis on back and extremities, and distended abdomen with hepatomegaly. Cytogenetic study showed normal 46, XX and no evidence for chromosomal aberration. Serum level of fasting growth hormone was normal. Serum insulin was elevated with normal oral GTT. Liver function test showed abnormaL data reflecting liver cirrhosis. Serum triglyceride and lipoprotein were increased. Bone age was accel-erated to 6 years of age. Pneumoencephalography showed the ventricular enlargement of all ventri-cular systems. On skin biopsy there noted markedly diminished fat tissue and acanthosis nigricans. Liver biopsy revealed finely, nodular monolobular cirrhosis with diffuse steatosis. This is the first case of congenital generalized liopdystrophy to be reported in Korea. Review of literature was made.
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| Key Words:
Generalized Lipodystrophy, Lipoatrophic Diabetes |
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