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[噬血细胞综合征揭示2型格里塞利综合征]

[A hemophagocytic syndrome revealing a Griscelli syndrome type 2].

作者信息

Jennane Selim, El Kababri Maria, Hessissen Laila, Kili Amina, Nachef Mohamed Nacer, Messaoudi Nezha, Doghmi Kamal, Mikdame Mohamed, El Khorassani Mohamed, Khattab Mohamed

机构信息

Service d'hématologie clinique, Hôpital militaire d'instruction Mohammed V, Rabat, Maroc.

出版信息

Ann Biol Clin (Paris). 2013 Jul-Aug;71(4):461-4. doi: 10.1684/abc.2013.0860.

Abstract

Griscelli syndrome type 2 is a rare autosomal recessive disorder, due to a mutation in RAB27A gene. It associates partial albinism, silver hair and immune deficiency. We report the case of a 6 year-old boy who was admitted to the Emergency department with severe sepsis complicated by hemophagocytic syndrome. Many clinical and biological criteria leads to the diagnosis of type 2 Griscelli syndrome: consanguineous family, recurrent infection, absence of psychomotor retardation, oculocutaneous albinism, silver hair, occurrence of hemophagocytic syndrome and especially the pathognomonic appearance on microscopic examination of the hair. The absence of giant organelles inclusion in all granulated cells eliminated Chediak-Higashi syndrome.

摘要

2型格里塞利综合征是一种罕见的常染色体隐性疾病,由RAB27A基因突变引起。它伴有部分白化病、银发和免疫缺陷。我们报告了一名6岁男孩的病例,该男孩因严重脓毒症并发噬血细胞综合征被收入急诊科。许多临床和生物学标准导致了2型格里塞利综合征的诊断:近亲家庭、反复感染、无精神运动发育迟缓、眼皮肤白化病、银发、噬血细胞综合征的发生,尤其是毛发显微镜检查的特征性表现。所有颗粒细胞中均无巨大细胞器包涵体排除了切迪阿克-希加综合征。

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