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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 2A0 Case 2 History
Case 2 History ---- The patient was a 50 year old woman with past medical history significant for hereditary cerebroretinal vasculopathy, whose father was the previously shown patient (Case 1). She tested positive for the same genetic mutation as her father. Starting about 5 years before her death, the patient began experiencing changes in vision. Serial retinal angiograms showed a loss of capillaries and vessels in her retinas and she lost her sight over the last few years. At that time an MRI showed ischemic changes in the cerebellum. Yearly MRIs showed interval increase in the number and conspicuity of the cerebellar enhancing lesions. Her most recent MRI showed a large confluent area of hyperintensity involving white matter in the left frontal, parietal and medial temporal lobes. There was also mass effect and 1 cm midline shift to the right secondary to this lesion. Clinically the patient deteriorated significantly over her last few weeks with changes in behavior, right sided paralysis, ultimately losing bowel and bladder control and died in 2010.
