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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 9A0 Case 9 History
Case 9 History ---- This patient is a 59 year old woman with a history of cerebroretinal vasculopathy (CRV) diagnosed in 09/2012. Her father died of CRV when he was 60. She carries an autosomal dominant mutation in TREX1. She initially presented in the summer of 2011 with the symptoms of incoordination of the left hand, shooting pain in her inner left thigh and difficulty in maintaining her balance. An MRI showed extensive white matter lesions both in the cerebrum and cerebellum. These were multiple, punctate and centrally enhancing. She received treatment with high doses of IV steroids x5 days without any apparent response in her symptoms. A brain biopsy revealed pathology consistent a vasculopathic process in 2012. A diagnosis of CRV was considered in view of her family history and brain MRI. From the beginning of 2016, she had a rapid decline in her overall cognitive function and dexterity and increasing emotional lability. She developed respiratory failure and did not respond to breathing therapy. The patient died at the end of September 2016 at a nursing home.
