Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
Ophthalmic Genet
; 42(3): 344-348, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33641574
Background: Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizure disorders. However, to date, no association with neurological mass lesions has been described.Materials and methods: Case reporResults: Here, we report a case of a patient with Norrie disease who presented with an enhancing mass of the choroid plexus that spontaneously diminished in size. Conclusion: This report suggests watchful waiting as a reasonable clinical approach to choroid plexus lesions in patients with Norrie disease.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Degeneração Retiniana
/
Espasmos Infantis
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Encefalopatias
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Cegueira
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Plexo Corióideo
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Doenças Genéticas Ligadas ao Cromossomo X
/
Proteínas do Olho
/
Mutação
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Proteínas do Tecido Nervoso
/
Doenças do Sistema Nervoso
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ophthalmic Genet
Assunto da revista:
GENETICA MEDICA
/
OFTALMOLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos