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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 13A0 Case 13 History
Case 13 History ---- This 55-year-old woman is the sister of the proband. At 54 years of age, she presented with headache, forgetfulness and slight papilledema. CT studies showed a left frontoparietal mass and at craniotomy a white, granular, firm lesion was partially excised. Laboratory studies did not demonstrate aerobic and anaerobic bacteria, yeast, fungi, acid-fast organisms, or viruses. There was no serologic or histopathologic evidence of toxoplasmosis. The patient's condition gradually deteriorated into a semi-vegetative state requiring full nursing care. Ophthalmic examination showed microvascular abnormalities in the posterior pole.
