Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Abstract

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations is caused by TREX1 mutations. High-quality systematic follow-up neuroimaging findings have not been described in presymptomatic and symptomatic mutation carriers. We present MR imaging findings of 29 TREX1 mutation carriers (20-65 years of age) and follow-up of 17 mutation carriers (30-65 years of age). Mutation carriers younger than 40 years of age showed a notable number of punctate white matter lesions, but scan findings were generally unremarkable. From 40 years of age onward, supratentorial lesions developed with long-term contrast enhancement (median, 24 months) and diffusion restriction (median, 8 months). In these lesions, central susceptibility artifacts developed, at least partly corresponding to calcifications on available CT scans. Some lesions (n = 2) additionally showed surrounding edema and mass effect (pseudotumors). Cerebellar punctate enhancing lesions developed mainly in individuals older than 50 years of age. These typical neuroimaging findings should aid neuroradiologic recognition of retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, which may enable early treatment of manifestations of the disease.

FIG 1.

MR imaging characteristics of typical RVCL-S lesions in a 60-year-old man. Periventricular and deep WMLs on sagittal (A) and transverse FLAIR (B) images. On the 3D-T1-weighted Gd image (C), note a rim-enhancing lesion next to the right dorsal horn and a punctiform enhancing lesion next to the left dorsal horn (white arrows). Punctiform SWI artifacts are seen in the center of these lesions (D). High DWI (E) and low ADC signal (F) in the lesions correspond to diffusion restriction.

FIG 2.

An example of punctiform enhancing lesions in the basal ganglia and cerebellum in a 60-year-old woman. A, Punctiform enhancing lesions (white arrows) in the putamen and caudate head on the right. B, Bilateral punctiform enhancing cerebellar lesions (white arrows).

FIG 3.

Long-term enhancement and diffusion restriction of a lesion during 31 months of follow-up in a 55-year-old woman. 3D-T1-weighted Gd and diffusion-weighted images acquired at baseline (A) show a punctiform enhancing lesion on the right with subtle diffusion restriction (white arrows), and after 31 months (B), the images show that the lesion migrates to the right ventricle (white arrows). The lesion is now linearly enhancing with partial rim enhancement and diffusion restriction (ADC with low values is not shown).

FIG 4.

Imaging characteristics of a pseudotumor in a 45-year-old woman. Note a rim-enhancing lesion of 30 mm, craniolateral to the left frontal horn, with multiple dotlike susceptibility artifacts and diffusion restriction in the center of the lesion with extensive surrounding vasogenic edema with mass effect (A, FLAIR. B, 3DT1 Gd. C, SWI. D, DWI).

FIG 5.

Imaging characteristics and evolution of a pseudotumor in a 60-year-old woman. 3D-T1-weighted Gd, diffusion-weighted, and SWI at baseline (A) show a rim-enhancing lesion with subtle diffusion restriction next to the left dorsal horn with some surrounding edema without mass effect. There were no abnormalities on the SWI. After 10 months (B), the lesion grows with new compression due to edema. Diffusion restriction is still noted, but no SWI abnormalities. After corticosteroid treatment, the enhancing lesion slowly diminished in size, and diffusion restriction disappeared at 31 months (C). A new SWI artefact in the center of the lesion is now noted (white arrow), corresponding to a focal calcification on CT acquired at 32 months, while at 15 months, no calcifications were present (Online Supplemental Data).