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

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

doi:10.1016/j.ensci.2019.100213

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

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

Authors

Tadanori Hamano^{1

2

3}, Tatsuro Mutoh^{1

4}, Hironobu Naiki⁵, Norimichi Shirafuji^{1

2}, Masamichi Ikawa¹, Osamu Yamamura¹, Dennis W Dickson⁶, Shichiryoemon Aiki⁷, Masaru Kuriyama^{1

8}, Yasunari Nakamoto¹

Affiliations

¹ Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
² Department of Aging and Dementia (DAD), Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
³ Life Science Innovation Center, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
⁴ Department of Neurology, Fujita Health University, Toyoake, Japan.
⁵ Department of Pathological Sciences, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
⁶ Department of Neuropathology, Mayo Clinic College of Medicine, FL, USA.
⁷ Department of Internal Medicine, Aiki Hospital, Echizen-city, Japan.
⁸ Department of Neurology, Ota Memorial Hospital, Fukuyama, Japan.

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.

Keywords: Craniofacial dysmorphism; Meningoencephalocele; Neurofibromatosis 1; Subventricular glial nodule.

Publication types

Case Reports