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Case Reports
. 2025 May 2;63(5):541-543.
doi: 10.3760/cma.j.cn112140-20241024-00744.

[A case of Chanarin-Dorfman syndrome]

[Article in Chinese]
H W Ma  1 , W Y Fang  1 , Y C Li  1 , X B Xie  1
Affiliations
Case Reports

[A case of Chanarin-Dorfman syndrome]

[Article in Chinese]
H W Ma et al. Zhonghua Er Ke Za Zhi. .

Abstract

患儿，男，4岁9月龄，因“发现转氨酶升高4年”就诊于复旦大学附属儿科医院，伴肝大、肝脏脂肪变性、肌电图异常、黄斑变性、视力减退等表现。经肝脏穿刺活检和基因检查，最终确诊为ABHD5基因复合杂合变异导致的Chanarin-Dorfman综合征。予富含中链甘油三酯的饮食、熊去氧胆酸口服、维甲酸软膏外用等治疗，丙氨酸转氨酶和天冬氨酸转氨酶均有改善，皮肤症状减轻。.

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