Neurofibromatosis type 1 associated with moyamoya syndrome. Case report and review of the literature

被引：0

作者：

Budisteanu, Magdalena ^{[1
,2
,3
]}

Burloiu, Carmen Magdalena ^{[1
]}

Papuc, Sorina Mihaela ^{[2
]}

Focsa, Ina Ofelia ^{[4
]}

Riga, Dan ^{[1
]}

Riga, Sorin ^{[1
]}

Arghir, Aurora ^{[2
,4
]}

机构：

[1] Prof Dr Alexandru Obregia Clin Hosp Psychiat, 10-12 Berceni Highway,Sect 4, Bucharest 041914, Romania

[2] Victor Babes Natl Inst Res & Dev Pathol & Biomed, Bucharest, Romania

[3] Titu Maiorescu Univ, Fac Med, Bucharest, Romania

[4] Carol Davila Univ Med & Pharm, Bucharest, Romania

来源：

ROMANIAN JOURNAL OF MORPHOLOGY AND EMBRYOLOGY | 2019年 / 60卷 / 02期

关键词：

neurofibromatosis type 1; moyamoya syndrome; cerebrovascular anomalies; neuroimagistic studies; DISEASE; PREVALENCE; CHILDREN;

D O I：

暂无

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Neurofibromatosis type 1 (NF1) is a genetic disorder with a very heterogeneous clinical picture, affecting central nervous system, skin and bone system. Cerebrovascular lesions, such as moyamoya syndrome, are rarely seen in NF1. Approximately 250 children with NF1 and moyamoya syndrome have been reported. The clinical picture includes hemiparesis, hemianopsia, paresthesia, seizures, speech disorders, and intellectual disability. In this paper, we report on a 6-year-old girl with NF1 and moyamoya syndrome, with a brief review of the existing literature.

引用

页码：713 / 716

页数：4

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