Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele.

作者信息

Hamano Tadanori, Mutoh Tatsuro, Naiki Hironobu, Shirafuji Norimichi, Ikawa Masamichi, Yamamura Osamu, Dickson Dennis W, Aiki Shichiryoemon, Kuriyama Masaru, Nakamoto Yasunari

机构信息

Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.

Department of Aging and Dementia (DAD), Faculty of Medical Sciences, University of Fukui, Fukui, Japan.

出版信息

eNeurologicalSci. 2019 Nov 18;17:100213. doi: 10.1016/j.ensci.2019.100213. eCollection 2019 Dec.

DOI:10.1016/j.ensci.2019.100213

PMID:31799455

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6881603/

Abstract

BACKGROUND

Neurofibromatosis 1 (NF1) is autosomally inherited disorder, characterized by café au lait spots and multiple neurofibromas. Subventricular glial nodules (SVGN) are multiple gliosis bulging into the ventricular lumen, and histologically consist of astrocytes and their processes. Damage to ependymal cells induces SVGN formation.

CASE REPORT

This case report describes a 50-year-old man with NF1, craniofacial dysmorphism, including sphenoid dysplasia, bone defects at the middle posterior fossa, with disconnection of the parieto-occipital sutures, and the left orbital bone, and occipital meningoencephalocele. He died of status epileptics. Pathologically, many SVGN were found around the ventricular wall. Many ependymal cells were stripped during ventricular dilatation. Therefore, to prevent brain tissue insult from direct exposure to CSF, the proliferation of astrocytes and their processes was speculated to have substitute for ependymal cells and induced SVGN formation.

摘要