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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 6A0 Case 6 History
Case 6 History ---- This patient was a 54 year old man who had been clinically diagnosed with hereditary cerebral retinal vasculopathy (CRV). The patient's family includes two affected members: the patient's mother, and the patient's brother. The patient's first episode appeared to have occurred around 1991, when he was found "just sitting in his truck" with confused and garbled speech. He was taken to an outside hospital where no diagnosis was established despite an extensive evaluation. Records from 1997 onwards report increasing hypertension, abnormal renal function with proteinuria, abnormal MRI imaging, and progressive decline in gait, mental status and vascular changes, particularly within the left eye. Magnetic resonance imaging from 1997 showed several small foci of increased signal intensity within the subcortical white matter, mainly in the centrum semi-ovale and a more prominent focus in the right cerebellum that enhanced slightly. Calcifications were also noted on computed tomography. A kidney biopsy was performed in 2000 to evaluate the patient's proteinuria and increased creatinine, and yielded diagnoses of arteriolosclerosis, glomerulosclerosis, interstitial fibrosis and tubular atrophy. Immuno-fluorescence and electron microscopy were also performed and revealed changes in the renal peritubular capillaries that were consistent with CRV. The patient's course over the following years included increasing apathy and depression, followed by paranoia and continued depression within the last two years of his life. During the last six months, the patient had become severely demented, and was being cared for by his wife and by hospice at his home. The patient's clinical course differed from the disease course in other family members with the absence of cerebellar edema, or infarction, and his liver and renal failure were milder than those in other family members.
