A novel CCM1 mutation in a 2-year old child -: Cerebral and cutaneous manifestations of familial cavernoma

Familial and multiple cerebral cavernous malformations are frequently caused by autosomal dominant mutations, which are clinically manifested with a penetration of approximately 60%. We report on a 2-year-old boy who presented with a cutaneous vascular malformation of the right thigh, which prompted cranial MRI. After detection of a right parietal cavernoma with signs of previous hemorrhaging, microsurgical excision was undertaken. Cerebral cavernomas were also diagnosed in a further nine relatives of the patient. Genetic analysis revealed a novel CCM1 mutation (c.1780_1783delinsTACCTGTTACCAAA), thus enabling presymptomatic testing in further relatives. We suggest genetic counseling and testing in patients with a positive family history and/or multiple lesions due to the possible clinical impact.