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

[krabbe disease]

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 .