Pediatric Neurology and Neurogenetics Unit, Children’s Hospital A. Meyer-University of Florence, Florence, Italy.
Neurology. 2012 Sep 18;79(12):1244-51. doi: 10.1212/WNL.0b013e31826aac88. Epub 2012 Aug 22.
To describe a homogeneous subtype of periventricular nodular heterotopia (PNH) as part of a newly defined malformation complex.
Observational study including review of brain MRI and clinical findings of a cohort of 50 patients with PNH in the temporo-occipital horns and trigones, mutation analysis of the FLNA gene, and anatomopathologic study of a fetal brain.
There were 28 females and 22 males. All were sporadic with the exception of an affected mother and son. Epilepsy occurred in 62%, cerebellar signs in 56%, cognitive impairment in 56%, and autism in 12%. Seventy percent were referred within the 3rd year of life. Imaging revealed a normal cerebral cortex in 76% and abnormal cortical folding in 24%. In all patients the hippocampi were under-rotated and in 10% they merged with the heterotopia. Cerebellar dysgenesis was observed in 84% and a hypoplastic corpus callosum in 60%. There was no gender bias or uneven gender distribution of clinical and anatomic severity. No mutations of FLNA occurred in 33 individuals examined. Heterotopia in the fetal brain revealed cytoarchitectonic characteristics similar to those associated with FLNA mutations; cortical pathology was not typical of polymicrogyria. Cerebellar involvement was more severe and the hippocampi appeared simple and under-rotated.
This series delineates a malformation complex in which PNH in the trigones and occipito-temporal horns is associated with hippocampal, corpus callosum, and cerebellar dysgenesis. This subtype of PNH is distinct from classic PNH caused by FLNA mutations.
描述一种脑室周围结节性异位（PNH）的同质亚型，作为新定义的畸形综合征的一部分。
观察性研究包括对 50 例颞叶和枕叶角 PNH 患者的脑 MRI 和临床发现进行回顾，FLNA 基因突变分析，以及胎儿脑的解剖病理学研究。
患者中有 28 名女性和 22 名男性。除了一对受影响的母子外，所有患者均为散发病例。癫痫发作占 62%，小脑体征占 56%，认知障碍占 56%，自闭症占 12%。70%的患者在 3 岁内就诊。影像学显示 76%的患者大脑皮层正常，24%的患者皮层折叠异常。所有患者的海马均旋转不足，10%的患者海马与异位融合。84%的患者存在小脑发育不良，60%的患者存在胼胝体发育不全。在 33 名接受检查的患者中未发现 FLNA 突变。胎儿脑的异位显示出与 FLNA 突变相关的细胞构筑特征；皮质病变不符合多微小脑回的典型特征。小脑受累更严重，海马看起来简单且旋转不足。
本系列描述了一种畸形综合征，其中三角区和枕叶角的 PNH 与海马、胼胝体和小脑发育不良有关。这种 PNH 亚型与由 FLNA 突变引起的经典 PNH 不同。
