- •Cerebral cavernous malformations (CCMs) rarely presents diffuse manifestations.
- •Ten Japanese patients with such CCMs underwent genomic analysis and followed-up.
- •These patients showed a stable neurological function for a long period.
- •CCMs with diffuse manifestation may be an entity with satisfactory prognosis.
Cerebral cavernous malformations (CCMs) are a distinct cerebrovascular disease. A fraction of CCMs present as diffuse manifestations distributed over the cerebral hemispheres, cerebellum, and brainstem. The purpose of the present study was to explore the clinical picture of such CCMs.
This study assessed the appearance of CCMs on magnetic resonance (MR) images, the presence of genetic mutations using the polymerase chain reaction method, and disease course over long-term follow-up in a total of 10 patients with diffuse CCMs.
The 10 patients were Japanese and comprised 5 males and 5 females with a mean age of 48.7 years. Three of them presented with seizures, two with headache and intracerebral hemorrhage, two with numbness, and one with dizziness, while the remaining two were asymptomatic. Genetic analysis revealed CCM1 mutations in four patients, CCM2 mutations in three, and a CCM3 mutation in one. In a family with 2 CCM2 patients, the appearance of sustained diffuse CCMs on MR images significantly differed between the 2 patients despite the mutation being identical. During the mean follow-up period of 13.7 years, none of the 10 patients showed evidence of neurological deterioration or symptomatic hemorrhage. The appearance of their CCMs on MRI did not show significant changes. Eight patients maintained normal neurological function.
CCMs with diffuse manifestation is a hereditary disease with satisfactory prognosis. Unrecognized genomic mutations may be involved in the genesis of these CCMs.
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Published online: June 14, 2016
Accepted: June 6, 2016
Received in revised form: May 30, 2016
Received: May 6, 2016
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