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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 10A0 Case 10 History
Case 10 History ---- The patient was a 56 year old man with familial cerebroretinal vasculopathy diagnosed in 1985 and treated intermittently with steroids. The primary manifestations of his disease were retinal vasculopathy and cerebral pseudotumors with surrounding edema. He had a history of alcohol abuse. Esophageal varices were diagnosed in 1992 and there was progressive deterioration in his hepatic function leading to cirrhosis with portal hypertension. He had splenomegaly and pancytopenia. His course was complicated by multiple urinary tract infections resulting in chronic renal insufficiency, depression, gastrointestinal hemorrhages, exertion angina, fractures of the ribs, left hip and right elbow, and ulcerative colitis. There was progressive deterioration in his mental and physical capabilities. In the months prior to death he was bedridden and demented. He resided in a nursing home for 7 months where he received pain relief and comfort care until October 1997 when he passed away.
