title: Multiple cerebral cavernous haemangiomas in an infant.
abstract: Cerebral cavernous malformations (CCMs) are vascular malformations causing seizures and cerebral hemorrhages. We report a 20-month old male with multiple CCMs associated with Krev interaction trapped 1 (KRIT1) c.845 + 1 G > C heterozygous transversion mutation. This case demonstrates the importance of molecular genetic analysis in cases of multiple CCM.
authors.affiliation: Department of Paediatric Neurology, Leicester Royal Infirmary, Leicester, LE1 5WW, UK.
authors.forename: Poonam
authors.initials: P
authors.lastname: Verma
authors.forename: Rashid
authors.initials: R
authors.lastname: Saleem
authors.forename: Pooja
authors.initials: P
authors.lastname: Harijan
authors.forename: Nahin
authors.initials: N
authors.lastname: Hussain
keywords: Angioma; cavernoma; cavernous haemangioma; seizure
references.citation: J Neurosurg. 2004 May;100(5 Suppl Pediatrics):481-7
references.pmid: 15287459
references.citation: Rev Neurol. 2002 Feb 16-28;34(4):339-42
references.pmid: 12022048
references.citation: Acta Neurochir (Wien). 1996;138(11):1267-74; discussion 1273-4
references.pmid: 8980728
references.citation: Nat Genet. 1999 Oct;23(2):189-93
references.pmid: 10508515
references.citation: Eur J Hum Genet. 2002 Nov;10(11):733-40
references.pmid: 12404106
references.citation: Proc Natl Acad Sci U S A. 2002 Aug 6;99(16):10677-82
references.pmid: 12140362
references.citation: Neurology. 2004 Apr 13;62(7):1213-5
references.pmid: 15079030
references.citation: Development. 2004 Mar;131(6):1437-48
references.pmid: 14993192