https://scholars.lib.ntu.edu.tw/handle/123456789/537136
Title: | Congenital generalized lipodystrophy in a 4-month-old infant | Authors: | Lee I.-H. HUEY-LING CHEN YUNG-MING JENG Cheng M.-T. Tsao L.-Y. MEI-HWEI CHANG |
Issue Date: | 2001 | Journal Volume: | 100 | Journal Issue: | 9 | Start page/Pages: | 623-627 | Source: | Journal of the Formosan Medical Association | Abstract: | Congenital generalized lipodystrophy (CGL, Berardinelli-Seip syndrome) is a rare autosomal recessive disorder with a clinical presentation of paucity of adipose tissue, muscular hypertrophy, organomegaly, and insulin-resistant diabetes. A 4-month-old Taiwanese female infant had hepatosplenomegaly and low body weight gain despite a voracious appetite. Hypermetabolism, hyperhidrosis, loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hypertrichosis, and marked hypertriglyceridemia were also noted. Liver histology revealed fatty change and portal-to-portal bridging fibrosis. Clinical features, serum biochemistry, and liver histology were compatible with the diagnosis of CGL. She was given a special diet characterized by calorie restriction and partial substitution of long-chain triglycerides with medium-chain triglycerides. The serum triglyceride concentration subsequently decreased. This present case suggests that extensive fatty infiltration and subsequent cirrhosis of the liver may be the earliest complication of CGL. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034751540&partnerID=40&md5=ca8d58af3b371102ffbebde705a22bd0 https://scholars.lib.ntu.edu.tw/handle/123456789/537136 |
ISSN: | 0929-6646 | SDG/Keyword: | fat; long chain triacylglycerol; medium chain triacylglycerol; triacylglycerol; acanthosis nigricans; appetite; article; body weight; caloric restriction; case report; clinical feature; fatty liver; female; hepatosplenomegaly; histopathology; human; hyperhidrosis; hypermetabolism; hypertrichosis; hypertriglyceridemia; infant; lipid diet; lipodystrophy; liver cirrhosis; liver fibrosis; muscle hypertrophy; subcutaneous fat; Taiwan; Female; Humans; Infant; Lipodystrophy; Liver; Triglycerides |
Appears in Collections: | 醫學系 |
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