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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 11A0 Case 11 History
Case 11 History ---- The patient was a 46 year old man with a history of familial·cerebroretinal vasculopathy as well as a history of heavy ethanol use and hypertension. At age 43 years he presented with left frontal headache, right sided weakness and dysarthria. Examination at that time showed him to be lethargic and oriented only to name. In addition he had right hemiparesis with facial involvement, right-sided hyperreflexia, right-sided sensory deficit, and mild papilledema. Blood tests were remarkable for an elevated alkaline phosphatase (in the range of 400) and an elevated gamma GT. CT scan showed a ring-enhancing lesion of the left centrum semiovale surrounded by extensive edema with subfalcine herniation from left to right. A cerebral angiogram showed no hypervascularity in this area. The blood vessels had a normal appearance and there was no suggestion of vasculitis. He also had fluorescein retinal angiography which showed capillary drop out in the fovea with a generalized decrease in retinal flow. An open cerebral white matter biopsy showed multiple foci of coagulation necrosis with astrocytosis and lipid phagocyte formation which was localized mainly to the white matter. There were also focal areas of calcification. In addition there was a chronic organizing occlusive vasculopathy of arterioles, venules and capillaries without frank intraluminal thrombi. His postoperative course was complicated by worsening aphasia and hemiparesis for which he underwent a second procedure to remove a left epidural hematoma. Bacterial, fungal and viral cultures of the brain sample were obtained and were negative. He gradually improved postoperatively and was sent home with a mild right hemiparesis. Medications at that time were anti-hypertensives, Dexamethasone (.5 mg day) and phenobarbital for a questionable history of seizure in the past. At follow-up two months later he was described as having had total resolution of the right hemiparesis with the exception of mild right facial weakness. He was described by his sister as having occasional problems remembering things. He had stopped the phenobarbital on his own. Five months after discharge he was jailed for antisocial behavior. He was apparently admitted for several weeks to a prison hospital and Elavil and phenothiazine (Trilafon) were added to his drug regimen. When he was seen in clinic at this time he was described as intermittently confused, frequently crying and dragging his right foot. Follow-up CT at that time showed marked edema without shift and a possible overall decrease in brain volume. Eleven months after discharge from the hospital he was placed in a nursing home because of worsening behavioral problems. His sister described him as falling frequently, sleeping most of the time and crying easily. He was oriented to person only. His gait was wide-based and ataxic with mild circumduction of the right lower extremity. Babinski sign was present bilaterally. A follow-up CT showed no change in the hypodense area. His course in the nursing home was marked by gradual deterioration with increasing difficulty in handling his secretions. He died two months later, presumably from aspiration pneumonia.
