Magnetic resonance imaging findings in children with spasmus nutans

Meredith Bowen, Jason H. Peragallo, Stephen F. Kralik, Andrea Poretti, Thierry A.G.M. Huisman, Bruno P. Soares

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Background Spasmus nutans (SN) is a rare pediatric ophthalmologic syndrome characterized by nystagmus, head bobbing, and abnormal head positioning. Historically, SN has been associated with underlying optic pathway gliomas (OPG); however, evidence of this association is based primarily on a small number of isolated case reports. Prior retrospective analyses have found the rate of OPG to be <2%, but these studies only intermittently used neuroimaging with computed tomography, which has limited sensitivity for detection of small lesions in the optic pathway. The purpose of this study was to investigate the association of SN with intracranial abnormalities, particularly OPG, using magnetic resonance imaging of the brain and orbits. Methods Neuroradiology databases at three institutions spanning January 2010 to May 2016 were queried for examinations ordered for evaluation of SN; MRI examinations of the brain and/or orbits were included and evaluated for OPG and other structural abnormalities. Medical records were reviewed to confirm a diagnosis of SN, presence of other underlying neurological disease, or preexisting diagnoses. Results A total of 40 patients with eligible MRI examinations were identified. None had optic nerve pathway gliomas. Two children had optic nerve hypoplasia; no other patients had optic pathway abnormalities. None had intracranial or orbital masses. MRI examinations were normal in 25 patients. Conclusions This series represents the largest collection of MRI examinations for SN in the literature to date and shows no association between OPG and SN. In children presenting with SN but no other findings suggesting OPG or neurological abnormalities, neuroimaging may not be required.

Original languageEnglish (US)
Pages (from-to)127-130
Number of pages4
JournalJournal of AAPOS
Issue number2
StatePublished - Apr 2017

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology


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