Familial Cerebral Cavernous Malformation Presenting with Epilepsy Caused by Mutation in the CCM2 Gene: A Case Report

Overview

Journal Medicine (Baltimore)

Specialty General Medicine

Date 2020 Jul 25

PMID 32702807

Citations 1

Authors

Kazuhiro Ishii

Naoki Tozaka

Satoshi Tsutsumi

Ai Muroi

Akira Tamaoka

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

analysis of nonsynonymous genomic variants within gene reaffirm the existence of dual cores within typical PTB domain.

Padarti A, Belkin O, Abou-Fadel J, Zhang J Biochem Biophys Rep. 2022; 29:101218.

PMID: 35128084 PMC: 8808078. DOI: 10.1016/j.bbrep.2022.101218.

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