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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 5A0 Case 5 History
Case 5 History ---- The patient is a 41 year old man with hereditary cerebroretinal vasculopathy. He presented to an OSH in late June with worsening cerebral edema and weakness as well as systemic generalized edema. He was made comfort care and expired. Regarding his course prior to death, he had been followed for hereditary cerebral retinal vasculopathy by numerous departments at WUSM since 2007. Cerebroretinal vasculopathy was known to have involved his father, paternal aunt and uncle, grandfather, and two cousins. At that time he presented after sudden onset of chest pain and left arm numbness. At this time he became confused and developed blurred vision and headache. Cardiac ischemia was ruled out. Following his discharge he continued to have headaches, slurred speech, word finding difficulty, and gait instability. In August of 2007, he had worsening word finding difficulties and underwent CT imaging which showed a 5 cm hypodense lesion in R frontal white matter. MRI showed an enhancing R frontal brain mass and the patient was started on Decadron for edema. He was subsequently seen by ophthalmology who felt that he had a subtle area of vascular occlusion in his left macula on fluorescein angiogram. In addition he was found to have “vasculopathic” changes in his colon. In October 2007, a repeat MRI showed decrease in area of brain edema. By November of 2008, he continued to have worsening headaches, decreased visual acuity, and erectile dysfunction. At this time his Decadron was restarted and weaned by December. In December he developed worsening left hand clumsiness, left sided weakness, and left facial droop. Given this and because of concern for hemorrhage on CT scan he was admitted to NNICU in early January and had his Decadron restarted. By mid-February 2008 he began to have worsening shortness of breath and peripheral edema. By March, his weakness and memory difficulties were worsening and he began to have melanotic stools. By April, he was homebound because of weakness and was diagnosed with hypertrophic cardiomyopathy with anasarca requiring diuretics. Reflexes were brisk throughout with slight increase on the left compared to the right. Sensory nerves were intact throughout including proprioception, vibration and light touch. He complained of numbness and paresthesias in his left leg.
