X-linked adrenoleukodystrophy presenting as Addison's disease

BMJ Case Reports

Volumn , Issue , 2010, Pages

  Morell, Bernhard Kaspar ^a   Teichler, Jens ^b   Budak, Kemal ^c   Vollenweider, Jörg ^d   Pavlicek, Vojtech ^e  

^a Kantonsspital Muensterlingen   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d NONE   (Switzerland)

^e NONE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84897889802     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.11.2009.2419     Document Type: Article

References (26)

1. Moser HW, Mahmoud A, Raymond GV. X-linked adrenoleukodystrophy. Nature Clinical Practice Neurology 2007; 3: 140-51. [CrossRef] [Medline] (Pubitemid 46403941)
2. Moser HW, Moser AB, Smith KD, et al. Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis 1992; 15: 645-64. [CrossRef] [Medline] [Web of Science]
3. X-linked Adrenoleukodystrophy Database (www.x-ald.nl).
4. Asheuer M, Bieche I, Laurendeau I, et al. Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy. Human Molecular Genetics 2005; 14: 1293-303. [Abstract/FREE Full text] (Pubitemid 40744489)
5. Moser HW. Therapy of X-linked adrenoleukodystrophy. NeuroRx 2006; 3: 246-53. [CrossRef] [Medline] (Pubitemid 44061702)
6. Mahmood A, Dubey P, Moser HW, et al. X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypes. Pediatr Transplant 2005; 9: 55-62. [CrossRef] [Medline] (Pubitemid 41719268)
7. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49: 512-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 32281335)
8. Moser HW, Raymond GV, Dubey P. New approaches to a neurodegenerative disease. JAMA 2005; 294: 3131-4. [CrossRef] [Medline]
9. Moser HW, Mahmoud A, Raymond GV. X-linked adrenoleukodystrophy. Nature Clinical Practice Neurology 2007; 3: 140-51. [CrossRef] [Medline] (Pubitemid 46403941)
10. Frank K, Schrecker O, Brosi K, et al. Adrenomyeloneuropathy, a rare cause of primary adrenal cortex insufficiency. Dtsch Med Wochenschr 1986; 111: 1519-22. [CrossRef] [Medline] (Pubitemid 16027651)
11. Vorgerd M, Fuchs S, Tegenthoff M, et al. A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study. J Neurol Neurosurg Psychiatry 1995; 58: 229-31. [Abstract/FREE Full text]
12. Oelkers W. Adrenal insufficiency. N Engl J Med 1996; 335: 1206-12. [CrossRef] [Medline] [Web of Science]
13. Reutens AT, Achermann JC, Ito M, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999; 84: 504-11. [CrossRef] [Medline] (Pubitemid 29075676)
14. Moser HW, Raymond GV, Lu SE, et al. Follow-up of 89 Lorenzo's oil treated asymptomatic adrenoleukodystrophy patients. Arch Neurl 2005; 62: 1073-80. [CrossRef] (Pubitemid 41043727)
15. Moser HW. Therapy of X-linked adrenoleukodystrophy. NeuroRx 2006; 3: 246-53. [CrossRef] [Medline] (Pubitemid 44061702)
16. Watkins PA, Naidu S, Moser HW: Adrenoleukodystrophy: biochemical procedures in diagnosis, prevention and treatment. J Inherit Metab Dis 1987; 10: 46-53. [CrossRef] [Medline] [Web of Science] (Pubitemid 17130341)
17. Pai GS, Khan M, Barbosa E, et al. Lovastatin therapy for X-linked adrenoleukodystrophy: clinical and biochemical observations in 12 patients. Mol Genet Metab 2000; 69: 312-22. [CrossRef] [Medline] [Web of Science] (Pubitemid 30333666)
18. Peters C, Charnas LR, Tan Y, et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104: 881-8. [Abstract/FREE Full text] (Pubitemid 38970588)
19. Moser HW, Mahmoud A, Raymond GV. X-linked adrenoleukodystrophy. Nature Clinical Practice Neurology 2007; 3: 140-51. [CrossRef] [Medline] (Pubitemid 46403941)
20. Kong MF, Jeffcoate W. Eigthy-six cases of Addison's disease. Clin Endocrinol 1994; 41: 757-61. [Medline]
21. Jorge P, Quelhas D, Oliveira P, et al. X-linked adrenoleukodystrophy in patients with idiopathic Addison disease. Eur J Pediatr 1994; 153: 594-7. [CrossRef] [Medline] (Pubitemid 24240000)
22. Kitchin W, Cohen-Cole SA, Mickel SF: Adrenoleukodystrophy: frequency of presentation as psychiatric disorder. Biol Psychiatry 1987; 22: 1375-87. [CrossRef] [Medline] [Web of Science] (Pubitemid 18046654)
23. Cox CS, Dubey P, Raymond GV, et al. Cognitive evaluation of neurologically asymptomatic boys with x-linked adrenoleukodystrophy. Arch Neurol 2006; 63: 69-73. [CrossRef] [Medline] [Web of Science] (Pubitemid 43063863)
24. Bezman L, Moser AB, Raymond GV, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 2001; 49: 512-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 32281335)
25. Shapiro E, Krivit W, Lockman L, et al. Long-term effect of bone-marrow transplantation for childhood-onset cerebral X-linked adrenoleukodystrophy. Lancet 2000; 356: 713-8. [CrossRef] [Medline] [Web of Science] (Pubitemid 30663240)
26. Peters C, Charnas LR, Tan Y, et al. Cerebral x-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004; 104: 881-8. [Abstract/FREE Full text] (Pubitemid 38970588)