Adrenoleukodystrophy laboratory findings
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Laboratory Findings
Plasma VLCFA Assay
- The diagnosis is established by clinical findings and the detection of serum long chain fatty acid levels.[1]
DNA-based Diagnosis
- Chromosome study to look for changes (mutations) in the ABCD1 gene. It is particularly reliable in carriers[2] and recommended as the diagnostic assay in women.
Brain MRI
- Abnormal bright signal intensities on the T2-weighted MRI images indicating demyelination of the white matter fibers and tracts. [3]
Spinal Cord MRI
- Magnetization transfer-weighted (MTw) images shows signal hyperintensities in the lateral and dorsal columns.[4]
Histopathology: Adrenoleukodystrophy of Brain
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References
- ↑ Moser AB, Kreiter N, Bezman L, Lu S, Raymond GV, Naidu S; et al. (1999). "Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls". Ann Neurol. 45 (1): 100–10. doi:10.1002/1531-8249(199901)45:1<100::aid-art16>3.0.co;2-u. PMID 9894883.
- ↑ Boehm CD, Cutting GR, Lachtermacher MB, Moser HW, Chong SS (1999). "Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy". Mol Genet Metab. 66 (2): 128–36. doi:10.1006/mgme.1998.2779. PMID 10068516.
- ↑ Kumar AJ, Rosenbaum AE, Naidu S, Wener L, Citrin CM, Lindenberg R; et al. (1987). "Adrenoleukodystrophy: correlating MR imaging with CT". Radiology. 165 (2): 497–504. doi:10.1148/radiology.165.2.3659373. PMID 3659373.
- ↑ Fatemi A, Smith SA, Dubey P, Zackowski KM, Bastian AJ, van Zijl PC; et al. (2005). "Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy". Neurology. 64 (10): 1739–45. doi:10.1212/01.WNL.0000164458.02141.06. PMID 15911801.