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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number100213
JournaleNeurologicalSci
Volume17
DOIs
StatePublished - Dec 2019

Keywords

  • Craniofacial dysmorphism
  • Meningoencephalocele
  • Neurofibromatosis 1
  • Subventricular glial nodule

ASJC Scopus subject areas

  • Neurology

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