Journal article
Cerebrovascular complications in Ehlers-Danlos syndrome type IV
KN North, DAH Whiteman, MG Pepin, PH Byers
ANNALS OF NEUROLOGY | WILEY | Published : 1995
Abstract
Ehlers-Danlos syndrome (EDS) type IV is an autosomal dominant disorder that results from mutations in the COL3A1 gene, which encodes chains of type III procollagen. Individuals with this disorder are predisposed to rupture of arteries, the bowel, and the gravid uterus. To assess the frequency of central nervous system complications, we reviewed clinical data concerning 202 individuals with EDS type IV from 121 families in which the diagnosis was confirmed by biochemical or molecular studies. We identified 19 individuals with cerebrovascular complications, which included intracranial aneurysms with secondary hemorrhage, spontaneous carotid-cavernous sinus fistula, and cercical artery dissecti..
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