Hereditary multiple Cerebral Cavernous Malformations associated with Wilson's Disease and Multiple Lypomatosis: case report.

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Hereditary multiple Cerebral Cavernous Malformations associated with Wilson's Disease and Multiple Lypomatosis: case report.

World Neurosurg. 2017 Jun 08;:

Authors: Olga B, Dmitry O, Tatyana I, Maria B, Eugene B

Abstract
We report on the patient with two Mendelian diseases - symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson's disease. Genetic analysis revealed SNPs in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in ATP7B gene, responsible for Wilson's disease. FCCMs were symptomatic in three generations. The patient had also multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications on the link of FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies. 4The present study is the description of an unusual association of two independent hereditary diseases of confirmed genetic origin - a combination that has not been described previously.

PMID: 28602929 [PubMed - as supplied by publisher]

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