Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations.
Autor: Hedderich, D. M.; Lummel, N.; Deschauer, M.; Kümpfel, T.; Schuh, E.; Patzig, M.; Zimmer, C.; Huber, T.
Publication year: 2020
Clinical neuroradiology
issn:1869-1447 1869-1439
doi: 10.1007/s00062-018-0755-4
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.
Language: eng
Rights:
Pmid: 30627749
Tags: Humans; Female; Male; Adult; Middle Aged; Retrospective Studies; MRI; Magnetic Resonance Imaging/*methods; Leukoencephalopathies/complications/*diagnostic imaging/pathology; Leukoencephalopathy; Neuroradiology; Retinal Artery/*diagnostic imaging/pathology; Retinal Vein/*diagnostic imaging/pathology; RVCL-S; TREX1; Vascular Diseases/complications/*diagnostic imaging/pathology
Link: https://pubmed.ncbi.nlm.nih.gov/30627749/
