Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
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.
Khan
Aneal
A
Department of Medical Genetics and Pediatrics, Alberta Children's Hospital, University of Calgary, 2888 Shaganappi Trail NW, Calgary, AB, Canada. aneal.khan@telus.net
Wei
Xing-Chang
XC
Snyder
Floyd F
FF
Mah
Jean K
JK
Waterham
Hans
H
Wanders
Ronald J A
RJ
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
D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human