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Brief ReportAdult Brain
Open Access

Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

E.S. Hoogeveen, N. Pelzer, I. de Boer, M.A. van Buchem, G.M. Terwindt and M.C. Kruit
American Journal of Neuroradiology June 2021, DOI: https://doi.org/10.3174/ajnr.A7194
E.S. Hoogeveen
aFrom the Department of Radiology (E.S.H., M.A.v.B., M.C.K.), Leiden University Medical Center, Leiden, the Netherlands
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N. Pelzer
bDepartment of Neurology (N.P., I.d.B., G.M.T.), Leiden University Medical Center, Leiden, the Netherlands
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I. de Boer
bDepartment of Neurology (N.P., I.d.B., G.M.T.), Leiden University Medical Center, Leiden, the Netherlands
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M.A. van Buchem
aFrom the Department of Radiology (E.S.H., M.A.v.B., M.C.K.), Leiden University Medical Center, Leiden, the Netherlands
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G.M. Terwindt
bDepartment of Neurology (N.P., I.d.B., G.M.T.), Leiden University Medical Center, Leiden, the Netherlands
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M.C. Kruit
aFrom the Department of Radiology (E.S.H., M.A.v.B., M.C.K.), Leiden University Medical Center, Leiden, the Netherlands
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Figures

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  • FIG 1.
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    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.
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    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.
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    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).

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    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.
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    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).

Tables

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    Table 1:

    MR imaging markers in TREX1 MCs at baselinea

    MR Imaging MarkersAll (n = 29)Younger than 40 Years (n = 11)40 Years or Older (n = 18)
    WMLs (mL), median (IQR)0.97 (0.2–3.9)0.19 (0.08–0.3)2.66 (1.0–7.7)
    Deep WMLs
     Absent8 (28)6 (55)2 (11)
     Punctate lesions18 (62)5 (45)13 (72)
     Beginning confluence2 (7)02 (11)
     Large confluent areas1 (3)01 (6)
    Periventricular WMLs
     Absent19 (66)9 (82)10 (55)
     Caps and bands2 (7)2 (18)0
     Smooth halo5 (17)05 (28)
     Irregular extending in DWM3 (10)03 (17)
    Enlarged perivascular spaces
     None12 (41)4 (36)8 (44)
     Mild14 (48)6 (55)8 (44)
     Moderate2 (7)02 (11)
     Frequent1 (3)1 (9)0
    Central atrophy
     None24 (83)11 (100)13 (72)
     Moderate5 (17)05 (28)
     Severe000
    Cortical atrophy
     None27 (93)11 (100)16 (89)
     Moderate2 (7)02 (11)
     Severe000
    Lacunar infarcts1 (3)01 (6)
    • Note:—IQR indicates interquartile range; DWM, deep white matter.

    • ↵a Data are No. (%) unless otherwise specified.

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    Table 2:

    Characteristics of active RVCL-S lesions at baseline

    All Lesions  (N = 44) No. (%)
    Size in mm, median (IQR)4 (2–8)
    Location
     Periventricular12 (27)
     Deep/subcortical white matter17 (39)
     Basal ganglia/thalamus15 (34)
    Characteristics of activity
     Enhancement
      Unknowna2 (4)
      No enhancement2 (4)
      Punctiform enhancement24 (55)
      Linear enhancement6 (14)
      Rim enhancement10 (23)
     Diffusion restriction22 (50)
    Other characteristics
     T2-hyperintensity33 (75)
     Susceptibility artifacts30 (68)
     Mass effect0
    • ↵a In 1 MC, no contrast was administered due to reduced kidney function. Lesions in this MC showed diffusion restriction.

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E.S. Hoogeveen, N. Pelzer, I. de Boer, M.A. van Buchem, G.M. Terwindt, M.C. Kruit
Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
American Journal of Neuroradiology Jun 2021, DOI: 10.3174/ajnr.A7194

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Neuroimaging Findings in Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations
E.S. Hoogeveen, N. Pelzer, I. de Boer, M.A. van Buchem, G.M. Terwindt, M.C. Kruit
American Journal of Neuroradiology Jun 2021, DOI: 10.3174/ajnr.A7194
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