title: Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
abstract: We report serial neurodegenerative changes on neuroimaging in a rare peroxisomal disease called D-bifunctional protein deficiency. The pattern of posterior to anterior demyelination with white matter disease resembles X-linked adrenoleukodystrophy. We feel this case is important to (1) highlight that D-bifunctional protein deficiency should be considered in cases where the neuroimaging resembles X-linked adrenoleukodystrophy, (2) to show different stages of progression to help identify this disease using neuroimaging in children, and (3) to show that neuroimaging suggesting a leukodystrophy can warrant peroxisomal beta-oxidation studies in skin fibroblasts even when plasma very long chain fatty acids are normal.
authors.affiliation: Department of Medical Genetics and Pediatrics, Alberta Children's Hospital, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, Canada. aneal.khan@telus.net
authors.forename: Aneal
authors.initials: A
authors.lastname: Khan
authors.forename: Xing-Chang
authors.initials: XC
authors.lastname: Wei
authors.forename: Floyd F
authors.initials: FF
authors.lastname: Snyder
authors.forename: Jean K
authors.initials: JK
authors.lastname: Mah
authors.forename: Hans
authors.initials: H
authors.lastname: Waterham
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007223:Infant; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D019636:Neurodegenerative Diseases / Q000151:congenital* / Q000473:pathology*; D018901:Peroxisomal Disorders / Q000175:diagnosis*; D064029:Peroxisomal Multifunctional Protein-2
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human