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

Clinical Neurology and Neurosurgery
Min-Yu LanYung-Yee Chang

Abstract

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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Citations

Jul 6, 2013·Journal of Molecular Neuroscience : MN·Francesca Romana GrippaudoFabio Santanelli
Jun 29, 2013·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Meena BalasubramanianSantosh R Mordekar
Oct 30, 2016·American Journal of Medical Genetics. Part a·Ivo J H M de VosMaurice A M van Steensel

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