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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 3A0 Case 3 History
Case 3 History ---- The patient is a 60 year old woman with a family history (mother, maternal grandfather) significant for cerebroretinal vasculopathy. Her past medical history also includes coronary artery disease, hypertension, hyperlipidemia, COPD, pulmonary embolism, a GI bleed in 2009 with gastric varices and diffuse colitis. The patient began noticing weakness in her legs, difficulty with balance and trouble walking in 2006. In 2007 she was diagnosed with multiple sclerosis (similar to the diagnosis initially given to other affected family members) and treated briefly with steroids without improvement. In 12/2008 worsening left sided weakness was diagnosed as a stroke. She has had progressive weakness in upper and lower extremities that became markedly worse between 2008 and 2009. She became paralyzed on the left and wheelchair bound. She had visual disturbances beginning in 2006 as well. She is status post cataract surgery (right eye) but only had minimal improvement in vision subsequently. Her vision was worse on the left than the right. She also had increasingly worse headaches. She was placed in a nursing home in 2009 and subsequently was diagnosed with cerebroretinal vasculopathy (CRV) at Washington University. She was treated subsequently with steroid therapy to control cerebral edema and was also placed on Lyrica. FLAIR and T2 weighted MRI showed increased size of the lesions in the right posterior frontal periventricular white matter (2.8 cm) as well as the left frontal lobe (1.5 cm) compared to the previous exam along with increased vasogenic edema in the left frontal lobe lesion. It was clarified that there were at least 5 enhancing lesions not seen on previous exams due to motion artifact. Her symptoms continued to progress through evaluations made at Washington University through 2010. The patient died at the end of 2011.
