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- Title
Neurodegeneration in D-bifunctional protein deficiency: diagnostic clues and natural history using serial magnetic resonance imaging.
- Authors
Khan, Aneal; Wei, Xing-Chang; Snyder, Floyd; Mah, Jean; Waterham, Hans; Wanders, Ronald
- 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.
- Subjects
IRAN; GENETIC disorder diagnosis; LIPID metabolism disorders; MAGNETIC resonance imaging; NEURODEGENERATION; NEURORADIOLOGY; OXIDOREDUCTASES; DIAGNOSIS
- Publication
Neuroradiology, 2010, Vol 52, Issue 12, p1163
- ISSN
0028-3940
- Publication type
Case Study
- DOI
10.1007/s00234-010-0768-4