title: Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections.
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.
authors.affiliation: Department of Care of the Elderly and Stroke Medicine, Leighton Hospital, Crewe, Cheshire, UK. rjbellis@doctors.net.uk
authors.forename: Richard James Booth
authors.initials: RJ
authors.lastname: Ellis
authors.forename: Maqsud
authors.initials: M
authors.lastname: Salehin
authors.forename: Rui
authors.initials: R
authors.lastname: Zhou
authors.forename: Mohammad
authors.initials: M
authors.lastname: Somauroo
mesh_terms: D000293:Adolescent; D002340:Carotid Artery Diseases / Q000209:etiology; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis*; D005260:Female; D006801:Humans; D012008:Recurrence