X-linked adrenoleukodystrophy presenting as Addison’s disease: Figure 1
Open accessAbstract
We report the case of a young man with a history of attention deficit/hyperactivity disorder and mild cognitive impairment who presented with chronic fatigue, anorexia and progressive darkening of the skin. On laboratory testing, severely depressed concentrations of morning cortisol, along with highly elevated values of adrenocorticotropic hormone (ACTH) revealed primary adrenal insufficiency as the primary cause of the patient’s symptomatology. Imaging of the brain showed altered signal intensities in the parieto-occipital regions of the brain. The demonstration of increased very long chain fatty acids (VLCFA) established the diagnosis of adolescent X-linked adrenoleukodystrophy (X-ALD). Presenting at an advanced yet slowly progressive stage the patient was not a suitable candidate for haematopoietic stem cell transplantation (HSCT), and treatment focused on hormone replacement therapy, family counselling and supportive care. On follow-up visits within the following year, fatigue had diminished and there was no evidence of progressive neurological deficits. However, exacerbation of the psychiatric symptomatology resulted in admittance to a psychiatric ward.
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For C26:0 (< 1.9 μmol/l), the sensitivity was 66.7% with 99.2% specificity and a PPV of 92% in genetically confirmed X-ALD cases.
“For C24:0 (< 85 µmol/l) the sensitivity was 36.4% with 88.2% specificity and a PPV of 48%, and for C26:0 (< 1.9 µmol/l)13 the sensitivity was 66.7% with 99.2% specificity and a PPV of 92%.”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [13]
For the ratio C24:0/C22:0 (< 1.11), the sensitivity was 90.9% with 96.6% specificity and a PPV of 91% in genetically confirmed X-ALD cases.
“For the ratio C24:0/C22:0 (< 1.11)13 the sensitivity was 90.9% with 96.6% specificity and a PPV of 91% for C26:0/C22:0 (< 0.04) the sensitivity was 66.7% with 100% specificity and a PPV of 96%.”
From Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy (2020) · cites this paper as [13]
Cites
Moser, H. W., Mahmood, A., & Raymond, G. V. (2007) · Nature Clinical Practice Neurology · doi:10.1038/ncpneuro0421 · Cited by 663 · see citing works
Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Bezman, L., Moser, A. B., Raymond, G. V., Rinaldo, P., Watkins, P. A., Smith, K. D., Kass, N. E., & Moser, H. W. (2001) · Annals of Neurology · doi:10.1002/ana.101 · Cited by 324 · see citing works
Asheuer, M., Bieche, I., Laurendeau, I., Moser, A., Hainque, B., Vidaud, M., & Aubourg, P. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi140 · Cited by 86 · see citing works
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Rattay, T. W., Rautenberg, M., Söhn, A. S., Hengel, H., Traschütz, A., Röben, B., Hayer, S. N., Schüle, R., Wiethoff, S., Zeltner, L., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-71248-8 · Cited by 61 · see citing works
- Authors
- Morell, B. K., Teichler, J., Budak, K., Vollenweider, J., & Pavlicek, V.
- Affiliations
- Kantonsspital Münsterlingen (CH)
- University Children's Hospital Zurich (CH)
- University Hospital Zurich (CH)
- Corresponding author
- Morell, Bernhard Kaspar
- Venue
- BMJ Case Reports
- Publisher
- BMJ
- Published
- 2010
- Volume
- 2010
- Pages
- bcr1120092419
- ISSN
- 1757-790X (ISSN-L)
- PMC
- PMC3047513
- OpenAlex
- W2060783780
- Cited by
- 4
- References
- 4
- Citations by year
- 2025: 1 · 2021: 1 · 2020: 1 · 2013: 1
- FWCI
- 0.20
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- BMJ Case Reports (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- HighWire Press Open Archive (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Keywords
- X-linked adrenoleukodystrophy, Addison's disease, very long chain fatty acids, attention deficit hyperactivity disorder, cognitive impairment, chronic fatigue, hyperpigmentation, cortisol deficiency, ACTH, hematopoietic stem cell transplantation, hormone replacement therapy
- MeSH terms
- Addison Disease, Adolescent, Adrenoleukodystrophy, Diagnosis, Differential, Humans, Magnetic Resonance Imaging, Male
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