title: Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.
abstract: Cerebral cavernous malformation (CCM) is a vascular malformation characterized by abnormally enlarged capillary cavities without any intervening neural tissue. We report 2 cases of familial CCMs diagnosed with the CCM1 mutation by using a genetic assay. A 5-year-old boy presented with headache, vomiting, and seizure-like movements. Brain magnetic resonance imaging (MRI) revealed multiple CCM lesions in the cerebral hemispheres. Subsequent mutation analysis of his father and other family members revealed c.940_943 del (p.Val314 Asn315delinsThrfsX3) mutations of the CCM1 gene. A 10-month-old boy who presented with seizure-like movements was reported to have had no perinatal event. His aunt was diagnosed with cerebral angioma. Brain and spine MRI revealed multiple angiomas in the cerebral hemisphere and thoracic spinal cord. Mutation analysis of his father was normal, although that of the patient and his mother revealed c.535C>T (p.Arg179X) mutations of the CCM1 gene. Based on these studies, we suggest that when a child with a familial history of CCMs exhibits neurological symptoms, the physician should suspect familial CCMs and consider brain imaging or a genetic assay.
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Im-Yong
authors.initials: IY
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Mi-Sun
authors.initials: MS
authors.lastname: Yum
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Eun-Hee
authors.initials: EH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Hae-Won
authors.initials: HW
authors.lastname: Choi
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.; Medical Genetic Center, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.
authors.forename: Tae-Sung
authors.initials: TS
authors.lastname: Ko
keywords: CCM1 protein; Familial cerebral cavernous malformation; KRIT1 protein