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格里塞利综合征

Griscelli syndrome.

作者信息

Rath Sanjeev, Jain Vivek, Marwaha R K, Trehan Amita, Rajesh L S, Kumar Vijay

机构信息

Division of Pediatric Hematology and Oncology, Advanced Pediatric Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.

出版信息

Indian J Pediatr. 2004 Feb;71(2):173-5. doi: 10.1007/BF02723104.

Abstract

An eight month old male infant presented with recurrent infections and partial albinism. Initially a possibility of Chediak Higashi syndrome (CHS) was considered, but a negative investigative work up prompted us to look for an alternate diagnosis. A literature search revealed that Griscelli syndrome (GS) has overlapping symptoms and signs. The findings in skin and hair biopsies in Griscelli syndrome are distinctive.

摘要

一名八个月大的男婴出现反复感染和部分白化病症状。最初考虑了切-东综合征(CHS)的可能性,但检查结果为阴性促使我们寻找其他诊断。文献检索显示,格里塞利综合征(GS)有重叠的症状和体征。格里塞利综合征在皮肤和毛发活检中的表现很独特。

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