title: Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafness.
abstract: The authors present the temporal bone histopathology of two siblings (4 months old and 6 months old at autopsy) with Canavan's disease, an autosomal recessive leukodystrophy that is variably associated with sensorineural hearing loss. The histopathology demonstrated bilateral absence of the organ of Corti throughout the apical and basal cochlea and mild secondary atrophy of the spiral ganglia neurons. The vestibular end organs and ganglia were normal. These findings implicate a role of aminoacylase II in the neurodevelopment of the organ of Corti.
authors.affiliation: Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095, USA. gishiyama@mednet.ucla.edu
authors.forename: Gail
authors.initials: G
authors.lastname: Ishiyama
authors.forename: Ivan
authors.initials: I
authors.lastname: Lopez
authors.forename: Robert W
authors.initials: RW
authors.lastname: Baloh
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiyama
mesh_terms: D001284:Atrophy; D017825:Canavan Disease / Q000150:complications* / Q000473:pathology; D015834:Cochlear Diseases / Q000209:etiology* / Q000473:pathology; D017809:Fatal Outcome; D006199:Hair Cells, Auditory, Inner / Q000473:pathology; D018072:Hair Cells, Auditory, Outer / Q000473:pathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D009925:Organ of Corti / Q000002:abnormalities*; D013136:Spiral Ganglion / Q000002:abnormalities*; D013701:Temporal Bone / Q000002:abnormalities / Q000473:pathology