RT Journal Article
SR Electronic
T1 Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP ajnr.A8707
DO 10.3174/ajnr.A8707
A1 Ferenchak, Kevin
A1 Guerin, Julie B.
A1 Nayab, Asra
A1 Keating, Gesina F.
A1 Lopour, Madeline Q.
A1 Dalvin, Lauren A.
A1 Schimmenti, Lisa A.
A1 Scruggs, Brittni A.
A1 Silvera, V. Michelle
YR 2025
UL http://www.ajnr.org/content/early/2025/02/18/ajnr.A8707.abstract
AB 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 central nervous system infection.ABBREVIATIONS: ND, Norrie disease; NDP, Norrin Cystine Knot Growth Factor NDP; PFV, persistent fetal vasculature; FEVR, familial exudative vitreoretinopathy; ROP, retinopathy of prematurity