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

  • D. M. HedderichEmail author
  • N. Lummel
  • M. Deschauer
  • T. Kümpfel
  • E. Schuh
  • M. Patzig
  • C. Zimmer
  • T. Huber
Original Article



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.


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.


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.


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.


Leukoencephalopathy Neuroradiology TREX1 RVCL-S MRI 



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

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.

Supplementary material

62_2018_755_MOESM1_ESM.png (118 kb)
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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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • D. M. Hedderich
    • 1
    Email author
  • N. Lummel
    • 1
  • M. Deschauer
    • 2
  • T. Kümpfel
    • 3
  • E. Schuh
    • 3
  • M. Patzig
    • 4
  • C. Zimmer
    • 1
  • T. Huber
    • 1
    • 5
  1. 1.Department of Diagnostic and Interventional Neuroradiology, Klinikum rechts der IsarTechnical University of MunichMunichGermany
  2. 2.Department of Neurology, Klinikum rechts der IsarTechnical University of MunichMunichGermany
  3. 3.Institute of Clinical Neuroimmunology, University Hospital and Biomedical CenterLudwig-Maximilians-University MunichMunichGermany
  4. 4.Department of Neuroradiology, University Hospital GroßhadernLudwig-Maximilians-University MunichMunichGermany
  5. 5.Department of Radiology, University Hospital GroßhadernLudwig-Maximilians-University MunichMunichGermany

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