Table of Contents
Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 16A1 RVCL (Case16) 3
Case 16 History ---- The patient was a 45-year-old woman with retinal vasculopathy with cerebral leukodystrophy (RVCL) complicated by bilateral ocular hypertension, vascular dementia and ischemic colitis. Additionally, she had previously been diagnosed with nodular regenerative hyperplasia of her liver with portal fibrosis. She was symptomatic for many years, with progressively worsening generalized weakness, abdominal pain, severely decreased oral intake, nausea, and weight loss. She also experienced double-vision, severe headaches, and vertigo. After several interventions were attempted to address her malnutrition and intractable nausea, she elected to forgo further intervention and enter hospice care in October 2021. She experienced continued progression of her headaches, abdominal pain, and weight loss related to her condition. She passed away in June 2023. ---- At autopsy the unfixed brain weighed 1040g. Although the patient had considerable pathophysiology, the external cortex, brainstem, cerebellum and spinal cord were only remarkable for mild gyral atrophy.. ---- 16A1 Coronal sections were largely devoid of grossly visible while matter lesions.
