Moyamoya syndrome and neurofibromatosis type 1

Italian Journal of Pediatrics

Dimitrios I Zafeiriou²  Athanasia Anastasiou¹  Maria Kyriazi²  Spyros Batzios²  Dimitris Samakovitis²  Evdoxia Sapountzi²  Euthymia Vargiami² 

[1] Department of Radiology, “Hippokratio” General Hospital, Thessaloniki, Greece;1st Department of Pediatrics, Aristotle University of Thessaloniki, Egnatia St. 106, Thessaloniki 54622, Greece

关键词: Childhood;    Central nervous system;    Infarct;    Vasculopathy;    Neurofibromatosis type 1 (NF1);    Moyamoya syndrome;   

Others  :  1146474
DOI  :  10.1186/1824-7288-40-59

 received in 2014-01-29, accepted in 2014-04-13,  发布年份 2014

【 摘 要 】

Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.

【 授权许可】

   
2014 Vargiami et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 7.

Figure 2.

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