Optic nerve enlargement in Krabbe disease: A pathophysiologic and clinical perspective

Syed A. Hussain, Holly H. Zimmerman, Omar A. Abdul-Rahman, Syed M. Hussaini, Colette C. Parker, Majid Khan

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

Krabbe disease is an infantile-onset progressive leukodystrophy. The classic presentation includes excessive irritability, muscle hypertonicity, developmental delay, failure to thrive, peripheral neuropathy, seizures, and optic nerve atrophy. The authors report a rare case of optic nerve enlargement early in infantile Krabbe disease. Their case demonstrates proximal prechiasmatic enlargement of the nerves. They discuss the pathophysiological and clinical correlation of optic nerve enlargement in Krabbe disease and in other disorders. Although Krabbe disease does not feature in initial differential of optic nerve enlargement in children, its inclusion and early identification facilitate a timely diagnosis of this rapidly progressive fatal disease.

Original languageEnglish (US)
Pages (from-to)642-644
Number of pages3
JournalJournal of Child Neurology
Volume26
Issue number5
DOIs
StatePublished - May 1 2011

Keywords

  • Krabbe disease
  • developmental delay
  • galactocerebrosidase
  • leukodystrophy
  • optic nerves

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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