Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections
作者： R. J. B. Ellis , M. Salehin , R. Zhou , M. Somauroo
关键词:
摘要: Vascular (type IV) Ehlers-Danlos is an autosomally dominant inherited condition that results from a defect in type III collagen production. It can result vascular complications such as rupture and dissection, well gastrointestinal uterine rupture. We present the case of 17-year-old girl who presented with transient neurological signs pulsatile tinnitus secondary to carotid dissection 1 year after suffering stroke caused also by on contralateral side. managed acutely investigated for underlying connective tissue disorder. Genetic analysis COL 3A1 was performed heterozygous missense, non-conservative mutation c.970G>A detected. This replication has previously been associated IV syndrome.
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