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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 17A1 (Case 17) FLAIR 4 - Copy
Case 17 History ---- The decedent was a 57-year old female with a history significant for retinal vasculopathy with cerebral leukoencephalopathy (RVCL), renal insufficiency, hypothyroidism, hypertension, and vision loss in her left eye. She is a member of a RVCL kindred, as her father passed away from complications of that disease. She initially presented with vision problems in the early 2010s. A brain MRI in 2016 revealed significant lesions in both hemispheres, especially in white matter of the frontal lobes. She tested positive for the TREX1 gene mutation, and she was subsequently diagnosed with RVCL. Since January 2023, she had been complaining of increasing weakness of the right arm, right leg, with some right sided tingling and numbness and increased fatigue, causing her to become wheelchair-bound. Additionally, she complained of slurred speech, drooling, dysphagia, and worsening vision problems. According to the decedent's clinical team, since July 2023, the decedent had worsening neurocognitive function and experienced a witnessed grand mal seizure. She was then transferred to an assisted-living facility, and passed away in October 2023. ---- At autopsy the unfixed brain weighed 1130g. ---- 17A1-3 MRI studies ---- 17A1,2 These FLAIR scans show white matter lesions involving periventricular, parenchymal and digitate white matter.
