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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 1A0 Case 1 History
Case 1 History ---- The initial published case of CRV (Grand et al., 1988) involved a 45 year old man who presented with headaches in1984 and a CT demonstrable right frontal mass lesion. He underwent craniotomy with biopsy which showed only necrosis. He was initially treated with acyclovir with no improvement. 'He suffered from increasing headaches. He underwent repeat craniotomy which showed necrosis with an angiopathy which characterized by large areas of predominantly white matter necrosis and hyalinizing, inflammatory and fibrinoid vasculopathy which most resembled delayed radionecrosis (he repeatedly denied exposure to radiation). He was treated with prednisone and Cytoxan and apparently showed some improvement. He also had a history of a left optic nerve vasculitis and bilateral tympanic membrane perforations, also thought to be vasculitic. On admission he showed an unreactive dilated left pupil, retinal hemorrhages and exudates but otherwise had a normal neurological exam. His problem on this hospitalization was diarrhea which progressively worsened after being in the hospital without a firm diagnosis. He was treated initially for Salmonella and Campylobacter enteritis and subsequently developed rebound abdominal tenderness and a coagulopathy with a PT of 22 and pancytopenia was noted. His hematocrit had dropped from 36 to 28 in the previous 24 hours. He was transfused but continued to lose blood and began having frank GI bleeding with melena. Colonoscopy showed bleeding colonic ulcers. He continued to have low grade fevers and it was found that he had cytomegalovirus inclusion bodies in his urine and in buffy coat smears of the blood. He in addition grew staphylococcus aureus in 2 blood cultures and was treated for that. Because he did not improve and continued to have bleeding despite platelet transfusions he underwent a subtotal colectomy. The pathologic specimen of bowel and liver showed "cytomegalic type" endothelial cells and degenerative vascular changes in the colon. He continued on broad spectrum antibiotics and likewise continued to deteriorate. Blood cultures were positive for Candida sp. He became progressively tachypneic, more lethargic and suffered a bradycardic arrest.
