Positional ocular flutter and thickened optic nerves as sentinel signs of Krabbe disease

Michael C. Brodsky, Jeffrey S. Hunter

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

A 5-month-old boy developed a large-amplitude, horizontal pendular flutterlike oscillation of the eyes, when placed in the supine position. Magnetic resonance imaging (MRI) 1 month earlier had shown isolated thickening of the optic nerves and chiasm without other central nervous system signal abnormalities. Repeat MRI at 5 months of age showed a constellation of central nervous system signal abnormalities suggestive of Krabbe disease. The diagnosis was confirmed with serum enzymatic and genetic testing. This case demonstrates that positional ocular flutter can be a presenting sign of Krabbe disease and reinforces the observation that isolated thickening of the anterior visual pathways can antedate other central nervous system abnormalities on MRI.

Original languageEnglish (US)
Pages (from-to)595-597
Number of pages3
JournalJournal of AAPOS
Volume15
Issue number6
DOIs
StatePublished - Dec 1 2011

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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