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Washington University Experience | MYELIN (NON-IMMUNE MEDIATED) | Retinal Vasculopathy with Cerebral Leukoencephalopathy (RVCL, TREX1 Mutation) | 18B1 TREX1 Disease (Case 18) Gross_3

18B1 TREX1 Disease (Case 18) Gross_3
At autopsy, the weight of the unfixed brain was 1260g. Coronal sections of the cerebral hemispheres show a large acute intraparenchymal and intraventricular hemorrhage centered in the left basal ganglia. The hemorrhage fills the left lateral ventricle and extends into the right ventricle and the third ventricle. This is not the typical finding in RVCL patients.


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