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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 15A0 Case 15 History
Case 15 History ---- The patient is a 38 year old woman who presented with abrupt bilateral vision loss while watching TV which largely resolved in a few minutes with some residual “holes” in vision in the right eye. Following that episode a MRI exam revealed a left frontal lobe mass. A stereotactic biopsy of the mass lesion was non-diagnostic. Post-biopsy headache was improved with dexamethasone. A more recent MRI 2 months later showed new punctate enhancements in the left corona radiata, but overall decreased edema. She is NMO and MOG negative. CSF cytology and cultures were negative. Consideration of metastatic disease has been pursued through CT of chest, abdomen and pelvis which showed no other lesions. Similarly, a body PET scan was performed, also finding no clear primary lesion. She has had no seizures, no paresis, no loss of sensation, no falls or trauma. Her headaches were thought to be migraines. She has a family history of a sister and a 7 year old nephew with migraine and another relative with rheumatoid arthritis. Her father has recently been told he has many small strokes by MRI but he does not have a progressive neurodegenerative disease. The possibility of CADASIL was considered. The astute clinician taking care of this patient invested in a non-directed genomic screen which demonstrated a TREX1 mutation supporting a diagnosis of Cerebroretinal Vasculopathy (CRV). ---- We have seen a number of CRV cases over the years but most have been autopsy cases of chronic largely “burned out” disease. The inflammatory nature of this case is an important reminder that this entity should be considered in cases with white matter necrosis and atypical pathology.
