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...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-12-01
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| Series: | eNeurologicalSci |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405650219300371 |
| _version_ | 1811224584862564352 |
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| author | Tadanori Hamano Tatsuro Mutoh Hironobu Naiki Norimichi Shirafuji Masamichi Ikawa Osamu Yamamura Dennis W. Dickson Shichiryoemon Aiki Masaru Kuriyama Yasunari Nakamoto |
| author_facet | Tadanori Hamano Tatsuro Mutoh Hironobu Naiki Norimichi Shirafuji Masamichi Ikawa Osamu Yamamura Dennis W. Dickson Shichiryoemon Aiki Masaru Kuriyama Yasunari Nakamoto |
| author_sort | Tadanori Hamano |
| collection | DOAJ |
| 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. Keywords: Neurofibromatosis 1, Subventricular glial nodule, Meningoencephalocele, Craniofacial dysmorphism |
| first_indexed | 2024-04-12T08:51:31Z |
| format | Article |
| id | doaj.art-4178bb75d8524d1488d46a4b8cc0b789 |
| institution | Directory Open Access Journal |
| issn | 2405-6502 |
| language | English |
| last_indexed | 2024-04-12T08:51:31Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | eNeurologicalSci |
| spelling | doaj.art-4178bb75d8524d1488d46a4b8cc0b7892022-12-22T03:39:34ZengElseviereNeurologicalSci2405-65022019-12-0117Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephaloceleTadanori Hamano0Tatsuro Mutoh1Hironobu Naiki2Norimichi Shirafuji3Masamichi Ikawa4Osamu Yamamura5Dennis W. Dickson6Shichiryoemon Aiki7Masaru Kuriyama8Yasunari Nakamoto9Second 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; Life Science Innovation Center, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; Corresponding author at: Second Department of Internal Medicine, Division of Neurology, Faculty of Medical Sciences, University of Fukui, 23-3 Matsuokashimoaizuki, Eiheiji-cho, Yoshida-gun, Fukui 910-1193, Japan.Second Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; Department of Neurology, Fujita Health University, Toyoake, JapanDepartment of Pathological Sciences, Faculty of Medical Sciences, University of Fukui, Fukui, JapanSecond 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, JapanSecond Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, JapanSecond Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, JapanDepartment of Neuropathology, Mayo Clinic College of Medicine, FL, USADepartment of Internal Medicine, Aiki Hospital, Echizen-city, JapanSecond Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan; Department of Neurology, Ota Memorial Hospital, Fukuyama, JapanSecond Department of Internal Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, JapanBackground: 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: Neurofibromatosis 1, Subventricular glial nodule, Meningoencephalocele, Craniofacial dysmorphismhttp://www.sciencedirect.com/science/article/pii/S2405650219300371 |
| spellingShingle | Tadanori Hamano Tatsuro Mutoh Hironobu Naiki Norimichi Shirafuji Masamichi Ikawa Osamu Yamamura Dennis W. Dickson Shichiryoemon Aiki Masaru Kuriyama Yasunari Nakamoto Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele eNeurologicalSci |
| 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 |
| url | http://www.sciencedirect.com/science/article/pii/S2405650219300371 |
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