ArticleAJNR. American journal of neuroradiology2025
Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities.
Article in AJNR. American journal of neuroradiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Norrie disease is a rare X-linked condition characterized by early childhood blindness and later onset sensorineural hearing loss. We report two male infants with genetically confirmed Norrie disease and characteristic ocular abnormalities consisting of bilateral funnel retinal detachments, anterior segment dysgenesis, and/or buphthalmos and microphthalmia. MRI demonstrated enhancement of the cranial nerves, cochleae, and cerebellum with cerebellar restricted diffusion. Intracranial findings mimicked meningitis, labyrinthitis, and cerebellitis. Neither infant showed clinical signs of infection. Labyrinthine and cerebellar signal abnormalities have not been previously reported in the context of Norrie disease. Clinicians should consider Norrie disease when encountering such findings and be aware that the described intracranial features of Norrie disease do not necessarily indicate CNS infection.
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