| Literature DB >> 23234825 |
Richard James Booth Ellis1, Maqsud Salehin, Rui Zhou, Mohammad Somauroo.
Abstract
Vascular (type IV) Ehlers-Danlos is an autosomally dominant inherited condition that results from a defect in type III collagen production. It can result in vascular complications such as rupture and dissection, as well as gastrointestinal and uterine rupture. We present the case of a 17-year-old girl who presented with transient neurological signs and pulsatile tinnitus secondary to carotid dissection 1 year after suffering from a stroke caused also by a carotid dissection on the contralateral side. We managed acutely and investigated for an underlying connective tissue disorder. Genetic analysis of COL 3A1 was performed and a heterozygous missense, non-conservative mutation of c.970G>A was detected. This replication mutation has previously been associated with type IV Ehlers-Danlos syndrome.Entities:
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Year: 2012 PMID: 23234825 PMCID: PMC4544302 DOI: 10.1136/bcr-2012-007435
Source DB: PubMed Journal: BMJ Case Rep ISSN: 1757-790X