Ebetiuc I, Bulk S, Leroy P
Service de Pédiatrie, CHU Liège, Belgique.
Service de Génétique, CHU Liège, Belgique.
Rev Med Liege. 2019 Jul;74(7-8):388-390.
Periventricular nodular heterotopia (PVNH) is a cerebral cortex malformation, due to a deletion/duplication in the FLNA gene, located on the chromosome X. The gene is coding a cytoskeleton protein. The transmission is dominant. It enters the heterogeneous group of philaminopathies. There is a feminine predominance. Males most often show early lethality. The clinical presentation is characterised by a seizure disorder ranging from mild to intractable, a mental retardation, hypotonia, cardiovascular abnormalities, vasculopathy and/or coagulopathy leading to stroke. The surveillance must be made by a pluridisciplinary team and the genetic counseling is necessary. We present here a paediatric case.
室周结节性异位（PVNH）是一种大脑皮质畸形，由位于X染色体上的FLNA基因缺失/重复所致。该基因编码一种细胞骨架蛋白。其遗传方式为显性遗传。它属于腓骨肌萎缩症异质性疾病组。女性患者居多。男性患者通常在早期致死。临床表现的特征为癫痫发作，程度从轻度到难治性不等，伴有智力发育迟缓、肌张力减退、心血管异常、血管病变和/或凝血病导致的中风。必须由多学科团队进行监测，并且有必要进行遗传咨询。我们在此介绍一例儿科病例。
