Korean J Pediatr.  2016 Jun;59(6):280-284. 10.3345/kjp.2016.59.6.280.

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene

• Yang IY
• Yum MS
• Kim EH
• Choi HW
• Yoo HW
• Ko TS

• KMID: 2353159
• DOI: http://doi.org/10.3345/kjp.2016.59.6.280

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.

Keyword

Familial cerebral cavernous malformation; CCM1 protein; KRIT1 protein

MeSH Terms

Brain
Capillaries
Cerebrum
Child
Child, Preschool
Fathers
Headache
Hemangioma
Hemangioma, Cavernous, Central Nervous System*
Humans
Infant
Magnetic Resonance Imaging
Male
Mothers
Neuroimaging
Spinal Cord
Spine
Vascular Malformations
Vomiting