Presentation
The patient initially presented with retinal vasculitis and bilateral venous occlusions over a 2-year period. There was associated blurry vision and night sweats. There was a family history of retinal disease and multiple deaths from strokes.
Patient Data
MRI of the brain displays patchy minimally expansile T2/FLAIR hyperintensity in the right frontal periventricular white matter. The finding is associated with abnormal central susceptibility. Additional areas of punctate abnormal susceptibility are seen in the left superior frontal subcortex, previously biopsied right corona radiata, right temporal and occipital lobes, as well as the left cerebellum.
Following contrast administration, there is a heterogeneous enhancement of the right frontal periventricular white matter lesion. Additional areas of punctate and nodular enhancement are seen in the bilateral left greater than right cerebellar hemispheres, interior right temporal lobe, and faintly within the posterior right frontal subcortex.
There is evidence of sequelae from a prior biopsy of the right frontal corona radiata with gliosis, chronic hemorrhage, and subsequent Wallerian degeneration.
Case Discussion
This case displays the typical imaging findings of retinal vasculopathy with cerebral leukoencephalopathy in a patient of this age group. The patient has a strong family history and was confirmed to have a TREX1 mutation that is known to cause cerebroretinal vasculopathy. The prior biopsy of the right corona radiata was obtained at an outside facility with no available report.
Unable to process the form. Check for errors and try again.