Novel de novo TREX1 mutation in a patient with retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations mimicking demyelinating disease.
Mult Scler Relat Disord
; 52: 103015, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-34044261
ABSTRACT
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare fatal autosomal dominant vasculopathy associated with mutations in the TREX1 gene. Only one de novo case has been reported in the literature. We report the long-term clinical, radiological, and pathological presentation of a patient with a de novo and novel mutation in this gene. Description of the clinical, genetic, imaging and pathologic characteristics is important to better characterize RVCL-S and prevent unnecessary interventions. RVCL-S should be considered in patients with tumefactive brain lesions unresponsive to immunotherapy.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Vasculares
/
Doenças Desmielinizantes
/
Leucoencefalopatias
Limite:
Humans
Idioma:
En
Revista:
Mult Scler Relat Disord
Ano de publicação:
2021
Tipo de documento:
Article