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Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report

RATIONALE: Cerebral cavernous malformation (CCM) of the familial type is caused by abnormalities in the CCM1, CCM2, and CCM3 genes. These 3 proteins forming a complex associate with the maintenance of vascular endothelial cell-cell junctions. Dysfunction of these proteins results in the development...

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Autores principales: Ishii, Kazuhiro, Tozaka, Naoki, Tsutsumi, Satoshi, Muroi, Ai, Tamaoka, Akira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373609/
https://www.ncbi.nlm.nih.gov/pubmed/32702807
http://dx.doi.org/10.1097/MD.0000000000019800
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author Ishii, Kazuhiro
Tozaka, Naoki
Tsutsumi, Satoshi
Muroi, Ai
Tamaoka, Akira
author_facet Ishii, Kazuhiro
Tozaka, Naoki
Tsutsumi, Satoshi
Muroi, Ai
Tamaoka, Akira
author_sort Ishii, Kazuhiro
collection PubMed
description RATIONALE: Cerebral cavernous malformation (CCM) of the familial type is caused by abnormalities in the CCM1, CCM2, and CCM3 genes. These 3 proteins forming a complex associate with the maintenance of vascular endothelial cell-cell junctions. Dysfunction of these proteins results in the development of hemangiomas and abnormal intercellular junctions. PATIENT CONCERNS: We report a 68-year-old man with familial cerebral cavernous malformation with initial presentation as convulsions at an advanced age. Brain magnetic resonance imaging revealed multiple cavernous hemangiomas in the right occipital lobe. The convulsions were considered to be induced by hemorrhage from cavernous hemangioma in the right occipital lobe. DIAGNOSES: Genetic screening of the CCM1, CCM2, and CCM3 genes revealed a novel mutation in the CCM2 gene (exon4 c: 359 T>A, p: V120D). No abnormalities were found in CCM1 or CCM3. Therefore, we diagnosed the patient with familial CCM caused by a CCM2 mutation. INTERVENTIONS: This patient was treated with the administration of levetiracetam at a dosage of 1000 mg/day. OUTCOMES: No seizures have been observed since the antiepileptic drug was administered. We performed brain magnetic resonance imaging (MRI) regularly to follow-up on appearance of new cerebral hemorrhages and cavernous hemangiomas. LESSONS: This report reviews cases of familial cerebral cavernous malformations caused by abnormalities in the CCM2 gene. This mutation site mediates interactions with CCM1 and CCM3. The mutation occurs in the phosphotyrosine binding (PTB) site, which is considered functionally important to CCM2.
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spelling pubmed-73736092020-08-05 Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report Ishii, Kazuhiro Tozaka, Naoki Tsutsumi, Satoshi Muroi, Ai Tamaoka, Akira Medicine (Baltimore) 5300 RATIONALE: Cerebral cavernous malformation (CCM) of the familial type is caused by abnormalities in the CCM1, CCM2, and CCM3 genes. These 3 proteins forming a complex associate with the maintenance of vascular endothelial cell-cell junctions. Dysfunction of these proteins results in the development of hemangiomas and abnormal intercellular junctions. PATIENT CONCERNS: We report a 68-year-old man with familial cerebral cavernous malformation with initial presentation as convulsions at an advanced age. Brain magnetic resonance imaging revealed multiple cavernous hemangiomas in the right occipital lobe. The convulsions were considered to be induced by hemorrhage from cavernous hemangioma in the right occipital lobe. DIAGNOSES: Genetic screening of the CCM1, CCM2, and CCM3 genes revealed a novel mutation in the CCM2 gene (exon4 c: 359 T>A, p: V120D). No abnormalities were found in CCM1 or CCM3. Therefore, we diagnosed the patient with familial CCM caused by a CCM2 mutation. INTERVENTIONS: This patient was treated with the administration of levetiracetam at a dosage of 1000 mg/day. OUTCOMES: No seizures have been observed since the antiepileptic drug was administered. We performed brain magnetic resonance imaging (MRI) regularly to follow-up on appearance of new cerebral hemorrhages and cavernous hemangiomas. LESSONS: This report reviews cases of familial cerebral cavernous malformations caused by abnormalities in the CCM2 gene. This mutation site mediates interactions with CCM1 and CCM3. The mutation occurs in the phosphotyrosine binding (PTB) site, which is considered functionally important to CCM2. Wolters Kluwer Health 2020-07-17 /pmc/articles/PMC7373609/ /pubmed/32702807 http://dx.doi.org/10.1097/MD.0000000000019800 Text en Copyright © 2020 the Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0
spellingShingle 5300
Ishii, Kazuhiro
Tozaka, Naoki
Tsutsumi, Satoshi
Muroi, Ai
Tamaoka, Akira
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title_full Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title_fullStr Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title_full_unstemmed Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title_short Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report
title_sort familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the ccm2 gene: a case report
topic 5300
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373609/
https://www.ncbi.nlm.nih.gov/pubmed/32702807
http://dx.doi.org/10.1097/MD.0000000000019800
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