A Japanese Pedigree of Familial Cerebral Cavernous Malformations : A Case Report

Imada Yasutaka

Yuki Kiyoshi

Migita Keisuke

Sadatomo Takashi

Kuwabara Masashi

Yamada Toru

Kurisu Kaoru

Hiroshima Journal of Medical Sciences

[PISSN] 0018-2052

[EISSN] 2433-7668

[NCID] AA00664312

Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/ CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene.

Cerebral cavernous malformation

Familial cerebral cavernous malformation

Genetic analysis

Japanese

Medical sciences [ 490 ]

eng

Hiroshima University Medical Press

Copyright (c) Hiroshima University Medical Press

[ISSN] 0018-2052

[NCID] AA00664312