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.
Similar content being viewed by others
References
Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, Liszewski MK, Barilla-Labarca ML, Terwindt GM, Kasai Y, McLellan M, Grand MG, Vanmolkot KR, de Vries B, Wan J, Kane MJ, Mamsa H, Schäfer R, Stam AH, Haan J, de Jong PT, Storimans CW, van Schooneveld MJ, Oosterhuis JA, Gschwendter A, Dichgans M, Kotschet KE, Hodgkinson S, Hardy TA, Delatycki MB, Hajj-Ali RA, Kothari PH, Nelson SF, Frants RR, Baloh RW, Ferrari MD, Atkinson JP. C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39:1068–70.
Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, Hardy TA, Hayes M, Kempster PA, Kotschet KE, Bajema IM, van Duinen SG, Maat-Schieman MLC, de Jong PTVM, de Smet MD, de Wolff-Rouendaal D, Dijkman G, Pelzer N, Kolar GR, Schmidt RE, Lacey J, Joseph D, Fintak DR, Grand MG, Brunt EM, Liapis H, Hajj-Ali RA, Kruit MC, van Buchem MA, Dichgans M, Frants RR, van den Maagdenberg AMJM, Haan J, Baloh RW, Atkinson JP, Terwindt GM, Ferrari MD. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139:2909–22.
Jen J, Cohen AH, Yue Q, Stout JT, Vinters HV, Nelson S, Baloh RW. Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS). Neurology. 1997;49:1322–30.
Weil S, Reifenberger G, Dudel C, Yousry TA, Schriever S, Noachtar S. Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome. Neurology. 1999;53:629–31.
Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, Hohlfeld R, Kümpfel T. Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflamm. 2014;2:e55.
Habes M, Erus G, Toledo JB, Zhang T, Bryan N, Launer LJ, Rosseel Y, Janowitz D, Doshi J, Van der Auwera S, von Sarnowski B, Hegenscheid K, Hosten N, Homuth G, Völzke H, Schminke U, Hoffmann W, Grabe HJ, Davatzikos C. White matter hyperintensities and imaging patterns of brain ageing in the general population. Brain. 2016;139:1164–79.
Walker AJ, Ruzevick J, Malayeri AA, Rigamonti D, Lim M, Redmond KJ, Kleinberg L. Postradiation imaging changes in the CNS: how can we differentiate between treatment effect and disease progression? 2014. Future Oncol. 2014;10:1277-97.
Given CA 2nd, Stevens BS, Lee C. The MRI appearance of tumefactive demyelinating lesions. AJR Am J Roentgenol. 2004;182:195–9.
Caracciolo JT, Murtagh RD, Rojiani AM, Murtagh FR. Pathognomonic MR imaging findings in Balo concentric sclerosis. AJNR Am J Neuroradiol. 2001;22:292–3.
Slone HW, Blake JJ, Shah R, Guttikonda S, Bourekas EC. CT and MRI findings of intracranial lymphoma. AJR Am J Roentgenol. 2005;184:1679–85.
Lin X, Lee M, Buck O, Woo KM, Zhang Z, Hatzoglou V, Omuro A, Arevalo-Perez J, Thomas AA, Huse J, Peck K, Holodny AI, Young RJ. Diagnostic Accuracy of T1-Weighted Dynamic Contrast-Enhanced-MRI and DWI-ADC for Differentiation of Glioblastoma and Primary CNS Lymphoma. AJNR Am J Neuroradiol. 2017;38:485–91.
Bette S, Huber T, Wiestler B, Boeckh-Behrens T, Gempt J, Ringel F, Meyer B, Zimmer C, Kirschke JS. Analysis of fractional anisotropy facilitates differentiation of glioblastoma and brain metastases in a clinical setting. Eur J Radiol. 2016;85:2182–7.
Fink KR, Fink JR. Imaging of brain metastases. Surg Neurol Int. 2013;4(Suppl 4):S209–19.
Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti MT, Duering M, Jouvent E, Korczyn AD, Lesnik-Oberstein SA, Malandrini A, Markus HS, Pantoni L, Penco S, Rufa A, Sinanović O, Stojanov D, Federico A. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med. 2017;15:41.
Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Neuropathology and Genetics of Cerebroretinal Vasculopathies. Brain Pathol. 2014;24:510–8.
Acknowledgements
We thank Dr. Uwe Ahting for performing genetic analyses on one patient included in this study.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
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 (*)
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00062-018-0755-4