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Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report

Cavernous malformations of the central nervous system combined with cutaneous vascular lesions due to KRIT1 mutation: a case report

Clinical Neurology and Neurosurgery 112(8): 729-732

ISSN/ISBN: 0303-8467

PMID: 20646827

DOI: 10.1016/j.clineuro.2010.05.010

Cavernous malformations (CMs) of the central nervous system can occur in a sporadic condition or as a familial form with an autosomal-dominant inherited pattern. Apart from a family history, some clinical features may help to identify familial CMs. We demonstrate clinical, neuroradiological, pathological, and genetic data of a patient with cerebral and spinal CMs. The presence of multiple cerebral CMs and distinct cutaneous vascular lesions, including hyperkeratotic cutaneous capillary-venous malformations, in this patient suggested familial CMs. A genetic study confirmed a nonsense mutation (c.1708A>T) in the KRIT1 gene.

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Accession: 051976980

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