• Olga B Belousova, Dmitry N Okishev, Tatyana M Ignatova, Maria S Balashova, and Eugenia S Boulygina.
• Vascular Department, N. N. Burdenko National Center of Neurosurgery Under Ministry of Health of the Russian Federation, Moscow, Russian Federation.
• World Neurosurg. 2017 Sep 1; 105: 1034.e1-1034.e6.

AbstractWe report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications linking FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies. The present study is the description of an unusual association between 2 independent hereditary diseases of confirmed genetic origin-a combination that has not been described previously.Copyright © 2017 Elsevier Inc. All rights reserved.

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