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J Child Neurol. 2011 May;26(5):642-4. doi: 10.1177/0883073810387929. Epub 2011 Jan 31.

Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective.

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  • 1Center for Psychiatric Neuroscience, University of Mississippi Medical Center, Jackson, Mississippi 39216-4505, USA.


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.

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