先天性全身性脂肪营养不良。报告一例，特别提及尸检结果。

Acta pathologica et microbiologica Scandinavica. Section A, Pathology Pub Date : 2009-08-15 DOI:10.1111/J.1699-0463.1976.TB00109.X

T. Berge, A. Brun, B. Hansing, B. Kjellman

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引用次数: 8

摘要

全身性脂肪营养不良(Berardinelli-Seip's综合征)被诊断为一名8-1/2个月大的男孩。10个月后，他因食欲不振而去世。特别涉及中枢神经系统的尸检显示下丘脑病变，可能是畸形或错构瘤性质。这些发现进一步支持了下丘脑功能障碍是全身性脂肪营养不良症状和体征的原因。

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Congenital generalized lipodystrophy. Report on one case, with special reference to postmortem findings.

: Generalized lipodystrophy (Berardinelli-Seip's syndrome) was diagnosied in a boy at the age of 8-1/2 months. Ten months later he died because of aspiration of food. Necropsy with special reference to the CNS revealed hypothalamic lesions, probably of a malformative or hamartomatous nature. The findings lend additional support to the view that hypothalamic dysfunction is responsible for the signs and symptoms of generalized lipodystrophy.

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Acta pathologica et microbiologica Scandinavica. Section A, Pathology

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