2019 Volume 24 Issue 1 Pages 14-19
Cerebral cavernous malformation (CCM) is a hamartomatous vascular malformation that typically presents as a sporadic lesion. A fraction of CCMs are of a familial type, inherited in an autosomal dominant trait. The present study aimed to investigate the correlation between clinical picture and prognosis of familial CCM in a Japanese population. Eighteen Japanese patients with defined familial CCM were analyzed. They comprised 8 (44%) with CCM1 mutations, 6 (33%) with CCM2 mutations, and 1 (6%) with CCM3 mutation; in 3 (17%), none of the CCM mutations was identified. Frequent initial symptoms were headache and seizure, similar to those of non‒familial, conventional‒typed CCMs. Eleven (61%) of the 18 showed a diffuse manifestation of CCMs involving the cerebral and cerebellar hemispheres, and the brainstem. However, types of genomic mutation and CCM appearance on magnetic resonance imaging (MRI) were variable and inconsistent. During a mean follow‒up of 7.5 years, 17 of the patients showed an uneventful clinical course without neurological deterioration or remarkable increase of CCMs on MRI. Most familial CCMs can anticipate a stable clinical course. Further investigation by comprehensive genomic analysis targeted for whole nucleotide sequences is needed for better understanding of familial CCM.
