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Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations

Abstract

Background

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare hereditary disease presenting with distinct imaging features in middle-aged adults. This article describes the typical imaging features focusing on the longitudinal course of RVCL-S lesions.

Methods

In this study six subjects (five male, five related) with RVCL-S were retrospectively included from two university hospitals. The median age of symptom onset was 40 ± 6 years. Magnetic resonance imaging (MRI) covering baseline and a median follow-up period of 33 months was reviewed in a structured way focusing on morphology, contrast enhancement and diffusion restriction of brain lesions.

Results

All patients showed patchy, T2 hyperintense white matter lesions (mean number 7.7 ± 1.8) with a periventricular predominance at the frontal lobes (59%). In all subjects, rim-enhancing white matter lesions with temporary diffusion restriction were present for a mean of 5.0 ± 3.9 months. Median duration of blood brain barrier disruption was 20 months.

Conclusion

Periventricular patchy white matter lesions in the frontal lobes as well as rim-enhancing lesions with prolonged diffusion restriction and long-lasting contrast enhancement are characteristic imaging findings in RCVL-S and can be helpful in the differential diagnosis.

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Acknowledgements

We thank Dr. Uwe Ahting for performing genetic analyses on one patient included in this study.

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Correspondence to D. M. Hedderich.

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Conflict of interest

D.M. Hedderich, N. Lummel, M. Deschauer, T. Kümpfel, E. Schuh, M. Patzig, C. Zimmer and T. Huber declare that they have no competing interests.

Caption Electronic Supplementary Material

62_2018_755_MOESM1_ESM.png

Suppl. Fig. 1: Pedigree showing relatives with RVCL-S in our cohort. Family members with available imaging data for review are marked with an asterisk (*)

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Hedderich, D.M., Lummel, N., Deschauer, M. et al. Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. Clin Neuroradiol 30, 229–236 (2020). https://doi.org/10.1007/s00062-018-0755-4

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  • DOI: https://doi.org/10.1007/s00062-018-0755-4

Keywords

  • Leukoencephalopathy
  • Neuroradiology
  • TREX1
  • RVCL-S
  • MRI