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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 18A0 Case 18 History
Case 18 History ---- The decedent is 61-year-old female with past medical history of strokes due to hereditary retinal vasculopathy and cerebral leukoencephalopathy (RVCL, TREX1 vasculopathy), as well as hypothyroidism, hypertension, open angle glaucoma in both eyes, and left eye blindness. The patient has a family history of autosomal dominant RVCL and was first seen at Washington University in 2008. She participated in trials of aclarubicin and crizanlizumab. She experienced progressive cognitive changes including memory loss, difficulty in balance, left and right sided weakness/stiffness/incoordination, left sided paresthesias, articulation difficulty, intermittent dysphagia, vertigo, bladder incontinence, and headaches. In May 2024, the patient had been experiencing increased confusion and fatigue over the prior few weeks, with increasing headaches, visual hallucinations, and double vision. The patient presented to the Mercy Hospital ED overnight in May 2024 with altered mental status via EMS from home. Her blood pressure was 158/95. Her medication list included aspirin 81 mg. Her husband described that the patient was having increased confusion and difficulty identifying objects and family members. Her last known normal was earlier the prior evening. In the ED, she was able to answer orientation questions appropriately, and knew where she was located and the year. Head CT showed no evidence of an acute intracranial process. Additionally, CTA head and neck was negative for any large vessel occlusion. Brain MRI showed advanced microvascular ischemic changes with scattered areas of encephalomalacia, unchanged from the prior MRI. Flow voids were present within the proximal arterial vasculature implying gross patency. The patient was admitted. The next morning, the patient became bradycardic to the 30s and had possible seizure-activity. She was transferred to the ICU. A rapid EEG showed no episodes of seizure-like activity but revealed severe slowing. The patient had more bradycardic spells. She became unresponsive and exhibited agonal breathing, requiring respiratory assistance. Both pupils were dilated and limbs were flaccid. Prior to these events, the patient had a Do Not Resuscitate (DNR) status, and after a discussion with family at the bedside, they elected to pursue comfort measures alone. Eventually the patient lost a pulse and she passed away.
