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Title of Journal: Neurol Sci

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Abbravation: Neurological Sciences

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Springer Milan

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DOI

10.1016/0039-128x(79)90113-2

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1590-3478

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Familial cerebral cavernous malformation report o

Authors: Serena Nannucci Francesca Pescini Anna Poggesi Laura Ciolli Maria Cristina Patrosso Alessandro Marocchi Domenico Inzitari Silvana Penco Leonardo Pantoni
Publish Date: 2009/01/30
Volume: 30, Issue: 2, Pages: 143-
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Abstract

Cerebral cavernous malformations CCMs are vascular abnormalities that may cause seizures headaches intracerebral hemorrhages and focal neurological deficits they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition Three genes have been identified as causing familial CCM KRIT1/CCM1 MGC4607/CCM2 and PDCD10/CCM3 mapping respectively on chromosomes 7q 7p and 3q This is a report on an Italian family affected by CCM due to a KRIT1 gene mutation on exon 13 The mother suffered from a cerebellar hematoma and was severely disabled one son had suffered from intractable seizures and underwent surgery for removal of a cavernous angioma while another son was asymptomatic Brain MRI showed CCMs in all patients This report underlines that a familial form of CCM could be suspected when a patient presents with multiple CCMs neurologists and neurosurgeons should be aware that genetic testing for these forms is available

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