title: Prolonged survival and serial magnetic resonance imaging/magnetic resonance spectroscopy changes in infantile Krabbe disease.
abstract: Krabbe disease may present during infancy, late infancy, or adulthood. Earlier-onset disease is associated with shorter survival times. We present a case of infantile onset Krabbe disease with prolonged survival, initial intracranial optic nerves and optic chiasm hypertrophy, and serial changes on cranial magnetic resonance imaging and magnetic resonance spectroscopy.
authors.affiliation: Section of Neurology, Faculty of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
authors.forename: Sean
authors.initials: S
authors.lastname: Udow
authors.forename: Martin
authors.initials: M
authors.lastname: Bunge
authors.forename: Lawrence
authors.initials: L
authors.lastname: Ryner
authors.forename: Aizeddin A
authors.initials: AA
authors.lastname: Mhanni
authors.forename: Michael S
authors.initials: MS
authors.lastname: Salman
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001923:Brain Chemistry; D002794:Choline / Q000032:analysis; D003131:Combined Modality Therapy; D003401:Creatine / Q000032:analysis; D004252:DNA Mutational Analysis; D004750:Enteral Nutrition; D004827:Epilepsy / Q000188:drug therapy / Q000209:etiology; D005698:Galactosylceramidase / Q000235:genetics; D006801:Humans; D006984:Hypertrophy; D007223:Infant; D007294:Inositol / Q000032:analysis; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000473:pathology* / Q000628:therapy; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009897:Optic Chiasm / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D010102:Oxygen Inhalation Therapy; D026741:Physical Therapy Modalities; D017741:Survivors
chemical_list: D000927:Anticonvulsants; D001224:Aspartic Acid; D007294:Inositol; C000179:N-acetylaspartate; D005698:Galactosylceramidase; D003401:Creatine; D002794:Choline