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

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 t...

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Autores principales: Hamano, Tadanori, Mutoh, Tatsuro, Naiki, Hironobu, Shirafuji, Norimichi, Ikawa, Masamichi, Yamamura, Osamu, Dickson, Dennis W., Aiki, Shichiryoemon, Kuriyama, Masaru, Nakamoto, Yasunari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881603/
https://www.ncbi.nlm.nih.gov/pubmed/31799455
http://dx.doi.org/10.1016/j.ensci.2019.100213
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author Hamano, Tadanori
Mutoh, Tatsuro
Naiki, Hironobu
Shirafuji, Norimichi
Ikawa, Masamichi
Yamamura, Osamu
Dickson, Dennis W.
Aiki, Shichiryoemon
Kuriyama, Masaru
Nakamoto, Yasunari
author_facet Hamano, Tadanori
Mutoh, Tatsuro
Naiki, Hironobu
Shirafuji, Norimichi
Ikawa, Masamichi
Yamamura, Osamu
Dickson, Dennis W.
Aiki, Shichiryoemon
Kuriyama, Masaru
Nakamoto, Yasunari
author_sort Hamano, Tadanori
collection PubMed
description 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.
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spelling pubmed-68816032019-12-03 Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele Hamano, Tadanori Mutoh, Tatsuro Naiki, Hironobu Shirafuji, Norimichi Ikawa, Masamichi Yamamura, Osamu Dickson, Dennis W. Aiki, Shichiryoemon Kuriyama, Masaru Nakamoto, Yasunari eNeurologicalSci Case Report 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. Elsevier 2019-11-18 /pmc/articles/PMC6881603/ /pubmed/31799455 http://dx.doi.org/10.1016/j.ensci.2019.100213 Text en © 2019 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Hamano, Tadanori
Mutoh, Tatsuro
Naiki, Hironobu
Shirafuji, Norimichi
Ikawa, Masamichi
Yamamura, Osamu
Dickson, Dennis W.
Aiki, Shichiryoemon
Kuriyama, Masaru
Nakamoto, Yasunari
Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title_full Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title_fullStr Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title_full_unstemmed Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title_short Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
title_sort subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881603/
https://www.ncbi.nlm.nih.gov/pubmed/31799455
http://dx.doi.org/10.1016/j.ensci.2019.100213
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