A Japanese pedigree of familial cerebral cavernous malformations--a case report.

A Japanese pedigree of familial cerebral cavernous malformations--a case report. Hiroshima J Med Sci. 2014 Dec;63(4):43-8 Authors: Imada Y, Yuki K, Migita K, Sadatomo T, Kuwabara M, Yamada T, Kurisu K Abstract 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. PMID: 25707093 [PubMed - indexed for MEDLINE]
Source: Hiroshima Journal of Medical Sciences - Category: Journals (General) Tags: Hiroshima J Med Sci Source Type: research