Literature DB >> 10449133

Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.

S Weil1, G Reifenberger, C Dudel, T A Yousry, S Schriever, S Noachtar.   

Abstract

We report a 35-year-old man with hereditary cerebroretinal vasculopathy (CRV) characterized by retinal microvascular changes and a right frontal intracerebral mass lesion that suggested a brain tumor. Histopathologic analysis of the patient's brain lesion as well as reviewed specimens of the patient's mother, who had reportedly died of a brain tumor, showed no neoplasia but did show cerebral microvasculopathy. CRV should be considered as a differential diagnosis for patients with intracerebral mass lesions, retinal vascular changes, and a positive family history of "brain tumors."

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Year:  1999        PMID: 10449133     DOI: 10.1212/wnl.53.3.629

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  15 in total

1.  A 44-year-old man with eye, kidney, and brain dysfunction.

Authors:  Ivana Vodopivec; Derek H Oakley; Cory A Perugino; Nagagopal Venna; E Tessa Hedley-Whyte; John H Stone
Journal:  Ann Neurol       Date:  2016-03-07       Impact factor: 10.422

Review 2.  [HERNS. A rare, hereditary, multisystemic disease with cerebral microangiopathy].

Authors:  C Seifried; M Sitzer; J Jen; G Auburger
Journal:  Nervenarzt       Date:  2005-10       Impact factor: 1.214

Review 3.  Retinal vascular image analysis as a potential screening tool for cerebrovascular disease: a rationale based on homology between cerebral and retinal microvasculatures.

Authors:  Niall Patton; Tariq Aslam; Thomas Macgillivray; Alison Pattie; Ian J Deary; Baljean Dhillon
Journal:  J Anat       Date:  2005-04       Impact factor: 2.610

4.  Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3.

Authors:  R A Ophoff; J DeYoung; S K Service; M Joosse; N A Caffo; L A Sandkuijl; G M Terwindt; J Haan; A M van den Maagdenberg; J Jen; R W Baloh; M L Barilla-LaBarca; N L Saccone; J P Atkinson; M D Ferrari; N B Freimer; R R Frants
Journal:  Am J Hum Genet       Date:  2001-06-28       Impact factor: 11.025

5.  Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations.

Authors:  Anine H Stam; Parul H Kothari; Aisha Shaikh; Andreas Gschwendter; Joanna C Jen; Suzanne Hodgkinson; Todd A Hardy; Michael Hayes; Peter A Kempster; Katya E Kotschet; Ingeborg M Bajema; Sjoerd G van Duinen; Marion L C Maat-Schieman; Paulus T V M de Jong; Marc D de Smet; Didi de Wolff-Rouendaal; Greet Dijkman; Nadine Pelzer; Grant R Kolar; Robert E Schmidt; JoAnne Lacey; Daniel Joseph; David R Fintak; M Gilbert Grand; Elizabeth M Brunt; Helen Liapis; Rula A Hajj-Ali; Mark C Kruit; Mark A van Buchem; Martin Dichgans; Rune R Frants; Arn M J M van den Maagdenberg; Joost Haan; Robert W Baloh; John P Atkinson; Gisela M Terwindt; Michel D Ferrari
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

6.  Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family.

Authors:  Yu-Hua Fan; Jian Sun; Yun Yuan; Ling Chen; Zhong Pei; Shi-Hui Xing; Bing Liao; Jin-Sheng Zeng
Journal:  Int J Clin Exp Pathol       Date:  2015-08-01

Review 7.  Migraine and neurogenetic disorders.

Authors:  Swati Sathe
Journal:  Curr Pain Headache Rep       Date:  2013-09

Review 8.  New roles for the major human 3'-5' exonuclease TREX1 in human disease.

Authors:  David Kavanagh; Dirk Spitzer; Parul H Kothari; Aisha Shaikh; M Kathryn Liszewski; Anna Richards; John P Atkinson
Journal:  Cell Cycle       Date:  2008-06-16       Impact factor: 4.534

9.  TREX1 C-terminal frameshift mutations in the systemic variant of retinal vasculopathy with cerebral leukodystrophy.

Authors:  Jacopo C DiFrancesco; Francesca Novara; Orsetta Zuffardi; Antonella Forlino; Roberta Gioia; Federica Cossu; Martino Bolognesi; Simona Andreoni; Enrico Saracchi; Barbara Frigeni; Tiziana Stellato; Markus Tolnay; David T Winkler; Paolo Remida; Giuseppe Isimbaldi; Carlo Ferrarese
Journal:  Neurol Sci       Date:  2014-09-12       Impact factor: 3.307

10.  Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy.

Authors:  D T Winkler; P Lyrer; A Probst; D Devys; T Haufschild; S Haller; N Willi; M J Mihatsch; A J Steck; M Tolnay
Journal:  J Neurol       Date:  2008-01-22       Impact factor: 6.682

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