Norrie disease with a spontaneously shrinking choroid plexus abnormality: a case report

ABSTRACT

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 repor

Results: 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.

KEYWORDS:

• Norrie disease
• case report
• CNS tumors

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.