Article Text

PDF
Letter
Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation?
  1. Todd A. Hardy1,2,
  2. Stephanie Young3,
  3. Joanne S. Sy4,
  4. Alison F. Colley5,
  5. Gisela M. Terwindt6,
  6. Michel D. Ferrari6,
  7. Michael W. Hayes1,
  8. Suzanne Hodgkinson7
  1. 1Department of Neurology, Concord Repatriation General Hospital, University of Sydney, Concord, New South Wales, Australia
  2. 2Brain and Mind Centre, University of Sydney, Camperdown, New South Wales, Australia
  3. 3Department of Ophthalmology, Concord Repatriation General Hospital, University of Sydney, Concord, New South Wales, Australia
  4. 4Department of Anatomical Pathology, Concord Repatriation General Hospital, University of Sydney, Concord, New South Wales, Australia
  5. 5Department of Clinical Genetics, Liverpool Hospital, University of NSW, Liverpool, New South Wales, Australia
  6. 6Department of Neurology, Leiden University Medical Center, Leiden, The Netherlands
  7. 7Department of Neurology, Liverpool Hospital, University of NSW, Liverpool, New South Wales, Australia
  1. Correspondence to Dr Todd A. Hardy, Department of Neurology, Concord Repatriation General Hospital, Concord, NSW, 2139 Australia; thardy{at}med.usyd.edu.au

Statistics from Altmetric.com

Retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S) is a rare, autosomal dominant condition caused by mutations in the TREX1 gene.1 2 Typically, vascular retinopathy becomes apparent in the fourth or fifth decade, soon followed by clinical manifestations of progressive focal and global brain disease. Brain imaging reveals ring-enhancing mass lesions and/or punctate hyperintense white matter lesions with or without nodular enhancement, often in combination with focal white matter calcifications. Many patients will also have, or develop, liver and kidney dysfunction, anaemia with or without gastrointestinal bleeding, hypertension, migraine and mild Raynaud's phenomenon.2 We describe two brothers with genetically proven RVCL-S due to a mutation in the TREX1 gene (3688_3689insG) encoding the mutant protein V235fs. The clinical history, radiology, treatment and outcomes for the two brothers are presented in the online supplementary file 1 and as figure S1 in the online supplementary file 2.

Supplementary file 1

S1
[SP1.pdf]

Supplementary file 2

S2
[SP2.jpg]

In Case 1, multiple sclerosis (MS) with tumefactive demyelinating lesions, cerebral vasculitis and neoplasm were all considered as diagnostic possibilities until the patient's brother also became symptomatic, indicating a possible genetic cause. The father of the two brothers was probably affected but confirmation is no longer possible. The consanguineous family history in our cases is unlikely to be significant as RVCL-S is an autosomal dominant rather than recessive condition. A recessive mutation in TREX1 causes Aicardi-Goutieres syndrome (AGS), which presents in the first year of life with acquired microcephaly, developmental delay, encephalopathy, spasticity and extrapyramidal signs. Like RVCL-S, AGS is notable for neuropathology demonstrating microangiopathy and microinfarction.

The MRI features of RVCL-S include periventricular white matter T2 hyperintensities, calcifications and infarcts.2 Tumefactive lesions are found in approximately …

View Full Text

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.