Adrenomyeloneuropathy type Adrenoleukodystrophy in a 32 years male: a case report
PDF (Español)
XML (Español)

Keywords

adrenoleukodystrophy
adrenomyeloneuropathy
adrenal insufficiency (MeSH)

Abstract

Adrenoleukodystrophy, the most common peroxisomal disorder, is a genetic condition linked to the X chromosome in which a defect of beta oxidation of very long chain fatty acids occurs within the perosixome with its consequent accumulation in different tissues leading to mainly neurological and endocrinological manifestations; there is a phenotypic variability according to the age of presentation including the adult form called adrenomyeloneuropathy. This case report refers to an adult male with multiple visits to emergency departments in relation to dorsal spinal symptoms with evidence of adrenal insufficiency and paraclinical support the diagnosis of adrenomyeloneuropathy.

https://doi.org/10.22379/24224022219
PDF (Español)
XML (Español)

References

Berger J, Forss-Petter S, Eichler FS. Pathophysiology of X-linked adrenoleukodystrophy. Biochimie. 2014;98(1):135-42.

Engelen M, Kemp S, Poll-The ?-T. X-Linked adrenoleuko-dystrophy: pathogenesis and treatment. Curr Neurol Neurosci Rep. 2014;14(10):486.

Fourcade S, Ferrer I, Pujol A. Oxidative stress, mitochondrial and proteostasis malfunction in adrenoleukodystrophy: A paradigm for axonal degeneration. Free Radic Biol Med. 2015;88:18-29.

Triantafyllou P, Economou M, Vlachaki E, Aggelaki M, Athanassiou-Mataxa M, Michelakaki E, et al. Multiple endocrine disorders associated "with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene. Pediatr Neurol. 2014;50(6):622-4.

Wiesinger C, Eichler FS, Berger J. The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis. Appl Clin Genet. 2015;8:109-21.

De Beer M, Engelen M, van Geel BM. Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy. Neurology. 2014;83(24):2227-31.

Park HJ, Shin HY, Kang H, Choi ?, Suh BC, Kim HJ, et al. Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy. Yonsei Med J. 2014;55(3):676-82.

Steinberg SJ, Moser AB, Raymond GV. X-Linked adrenoleuko-dystrophy. En: Ardinger HH, Pagon RA y Wallace SE, editoras. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2016.

Van Geel BM, Bezman L, Loes DJ, Moser HW, Raymond GV. Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy Van Geel ?. M. Ann Neurol 2001;49(2):186-94.

Laureti S, Casucci G, Santeusanio F, Angeletti G, Aubourg P, Brunetti P. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients J Clin Endocrinol Metab. 1996;81(2):470-4.

Dubey P, Raymond GV, Moser AB, Kharkar S, Bezman L, Moser HW Adrenal insufficiency in asymptomatic adrenoleu-kodystrophy patients identified by very long-chain fatty acid screening. J Pediatr. 2005;146(4):528-32.

Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, et al. X linked adrenoleukodystrophy in women: A cross-sectional cohort study. Brain. 2014;137(3):693-706.

Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, et al. Newborn screening for X-linked adrenoleuko-dystrophy: evidence summary and advisory committee recommendation. Genet Med. 2017;19(1):121-6.

Melhem ER, Loes DJ, Georgiades CS, Raymond GV, Moser HW X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging in predicting disease progression. Am J Neuroradiol. 2000;21(5):839-44.

Agosta F, Chiò A, Cosottini M, De Stefano N, Falini A, Mascalchi M, et al. The present and the future of neuro-imaging in amyotrophic lateral sclerosis. Am J Neuroradiol. 2010;31(10):1769-77.

Rovira A, Alonso J, Córdoba J. MR imaging findings in hepatic encephalopathy. AJNR Am J Neuroradiol. 2008;29(9):1612-21.

Fatemi A, Smith SA, Dubey P, Zackowski KM, Bastian AJ, Van Zijl PC, et al. Magnetization transfer MRI demonstrates spinal cord abnormalities in adrenomyeloneuropathy. Neurology. 2005;64(10):1739-45.

Berger J, Pujol A, Aubourg P, Forss-Petter S. Current and future pharmacological treatment strategies in X-linked adrenoleukodystrophy. Brain Pathol. 2010;20(4):845-56.

Mahmood A, Dubey P, Moser HW, Moser A. X-linked adrenoleukodystrophy: Therapeutic approaches to distinct phenotypes. Pediatr Transplant. 2005;9(Supl. 7):55-62.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Downloads

Download data is not yet available.