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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 7A0 Case 7 History (4)
Case 7 History ---- The father of the proband case who presented at 56 years of age with Jacksonian seizures and a grand mal seizure disorder subsequently developed. Medical history included adult onset diabetes mellitus. The patient reported loss of central vision resulting in the inability to read newsprint or watch television. An abnormal brain scan led to angiography which showed a mass effect. At craniotomy, a right parietal mass lesion described as large and firm was partially excised. The patient showed progressive neurologic deterioration with neuroradiologic evidence of involvement of both hemispheres.
