İsikay Sedat, Yilmaz Kutluhan
Department of Pediatrics, Gaziantep University, Gaziantep, Turkey.
BMJ Case Rep. 2013 Jan 25;2013:bcr-2012-007639. doi: 10.1136/bcr-2012-007639.
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome, with frequent involvement of the central nervous system (CNS). As well as abnormal cellular differentiation, disordered cell migration during development is the most common cause of the various brain lesions. Cystic lesions are rarely observed in neurocutaneous diseases, and the origin of the cysts is not known. This paper presents a rare case, a child at the age of 3, who was diagnosed as NF-1 and was observed to have asymptomatic cystic lesions in right temporal lobe in radiological examination of CNS. This study draws attention to the relationship between these rare cystic lesions of unknown origin and neurocutaneous diseases.
1型神经纤维瘤病（NF-1）是一种常染色体显性遗传的神经皮肤综合征，中枢神经系统（CNS）常受累。除细胞分化异常外，发育过程中细胞迁移紊乱是各种脑病变最常见的原因。在神经皮肤疾病中很少观察到囊性病变，其囊肿的起源尚不清楚。本文报告了1例罕见病例，一名3岁儿童被诊断为NF-1，在中枢神经系统放射学检查中发现右侧颞叶有无症状性囊性病变。本研究关注这些罕见的不明来源囊性病变与神经皮肤疾病之间的关系。
