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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 4A0 Case 4 History
Case 4 History ---- The decedent was a 56 year-old Caucasian female with a family history of hereditary cerebral retinal vasculopathy due to heterozygous TREX1 mutation. As is typical in this disease, the patient developed progressive disability from multifocal white matter and retinal infarcts. The most recent MRI scan demonstrated a ring-enhancing lesion near the anterior horn of the right lateral ventricle with associated FLAIR signal abnormality in the centrum semiovale. There were other lesions with similar radiographic appearance in the white matter. There was also cerebral and brainstem atrophy. Headaches and radiographic lesions did improve with prednisone. At her last visit in August 2014, she was wheelchair bound, vision was 20/400 in the left eye despite laser treatment and she also complained of chronic constipation and urinary incontinence. She died in October, 2015. The events in the immediate lead-up to her death are not present in the available medical records.
