Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy.
نویسندگان
چکیده
Abdominal apoplexy is a clinical entity characterized by spontaneous intraperitoneal hemorrhage from rupture of a visceral vessel. We describe a 34-year-old man who presented with abdominal apoplexy due to rupture of an ileocolic aneurysm. Subsequent biochemical and genetic analysis confirmed the diagnosis of Ehlers-Danlos syndrome type IV based on abnormal production of type III procollagen and a novel mutation in the COL3A1 gene. Patients presenting with abdominal apoplexy should undergo a thorough examination so that the underlying vascular pathology can be identified.
منابع مشابه
Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene.
Ehlers-Danlos syndrome type IV (EDS IV) is caused by mutation within the COL3AI gene, resulting in the disorder of type III procollagen. The diagnosis is confirmed by demonstrating the synthesis of abnormal type III procollagen molecules from cultured dermal fibroblasts or by identifying the mutation in the COL3A1 gene. The authors report a case of EDS IV caused by a novel point mutation in the...
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عنوان ژورنال:
- Mayo Clinic proceedings
دوره 77 8 شماره
صفحات -
تاریخ انتشار 2002