一名儿科患者中与I型神经纤维瘤病相关的烟雾综合征。
Moyamoya syndrome associated with neurofibromatosis type I in a pediatric patient.
作者信息
Darrigo Júnior Luiz Guilherme, Valera Elvis Terci, Machado André de Aboim, Santos Antonio Carlos Dos, Scrideli Carlos Alberto, Tone Luiz Gonzaga
机构信息
Division of Pediatric Oncology, Department of Pediatrics, Ribeirão Preto School of Medicine, University of São Paulo, Brazil.
出版信息
Sao Paulo Med J. 2011 Mar;129(2):110-2. doi: 10.1590/s1516-31802011000200010.
CONTEXT
Neurofibromatosis type 1 (NF-1) is the most prevalent autosomal dominant genetic disorder among humans. Moyamoya disease is a cerebral vasculopathy that is only rarely observed in association with NF-1, particularly in the pediatric age range. The present study reports an occurrence of this association in an infant.
CASE REPORT
An eight-month-old female presented convulsive seizures with clonic movements. The patient suffered an ischemic stroke with hemiparesis. Magnetic resonance imaging revealed radiological findings compatible with moyamoya disease. The diagnosis of NF-1 was made at the age of 20 months.
CONCLUSION
Despite the rarity of this association in childhood, children with focal neurological symptoms and a diagnosis of NF-1 deserve to be investigated for moyamoya syndrome.
背景
1型神经纤维瘤病（NF-1）是人类中最常见的常染色体显性遗传病。烟雾病是一种脑血管病，仅在与NF-1相关的情况下很少见，尤其是在儿童年龄范围内。本研究报告了一名婴儿中这种关联的发生情况。
病例报告
一名8个月大的女性出现伴有阵挛性运动的惊厥发作。该患者发生了伴有偏瘫的缺血性中风。磁共振成像显示出与烟雾病相符的影像学表现。NF-1的诊断在20个月大时做出。
结论
尽管这种关联在儿童期罕见，但有局灶性神经症状且诊断为NF-1的儿童仍值得对烟雾病综合征进行调查。
Zotero 插件