title: Canavan disease - unusual imaging features in a child with mild clinical presentation.
abstract: Canavan disease is a rare hereditary leukodystrophy that manifests in early childhood. Associated with rapidly progressive clinical deterioration, it usually results in death by the third year of life. The predominant MRI appearance is diffuse and symmetrical white matter disease. We discuss an atypical, late presentation of Canavan disease with a benign clinical course and uncharacteristic imaging features. This case introduces a previously unreported pattern of diffuse cortical abnormality without significant white matter involvement.
authors.affiliation: Department of Radiology, Seattle Children's Hospital, University of Washington, 4800 Sand Point Way NE, Seattle, WA, 98105, USA, leavesam@gmail.com.
authors.forename: Ho V
authors.initials: HV
authors.lastname: Nguyen
authors.forename: Gisele E
authors.initials: GE
authors.lastname: Ishak
mesh_terms: D001921:Brain / Q000473:pathology*; D017825:Canavan Disease / Q000175:diagnosis*; D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009682:Magnetic Resonance Spectroscopy
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