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Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report.
Younes, Subhi Talal; Shiflett, James Mason; Weaver, Kristin; Smith, Andrew; Herrington, Betty; Taylor, Charlotte; Reddy, Kartik.
Afiliação
  • Younes ST; School of Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Shiflett JM; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Weaver K; Department of Neurosurgery, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Smith A; Department of Neurosurgery, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Herrington B; Department of Neurosurgery, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Taylor C; Department of Pediatrics, Division of Hematology/Oncology, University of Mississippi Medical Center, Jackson, Mississippi, USA.
  • Reddy K; Department of Radiology, Division of Neuroradiology, University of Mississippi Medical Center, Jackson, Mississippi, USA.
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Espasmos Infantis / Encefalopatias / Cegueira / Plexo Corióideo / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho / Mutação / 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

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Degeneração Retiniana / Espasmos Infantis / Encefalopatias / Cegueira / Plexo Corióideo / Doenças Genéticas Ligadas ao Cromossomo X / Proteínas do Olho / Mutação / 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