X-linked adrenoleukodystrophy in a pediatric patient: A case report

X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene leading to the accumulation of very long-chain fatty acids. A 6-year-old male started his condition 6 months ago with developmental regression and loss of visual acuity. Physical examination showed...

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Auteurs principaux:	Graciela A. López-Uriarte, Leonor G. Hinojosa-Amaya, Laura G. Peña-Balboa, Efrain de J. Medina-Cruz
Format:	article
Langue:	EN ES
Publié:	Permanyer 2021
Sujets:	X-linked adrenoleukodystrophy. Addison’s disease. Adrenal insufficiency. Peroxisomal disease. Metachromatic leukodystrophy. Medicine (General) R5-920
Accès en ligne:	https://doaj.org/article/d69d40f09b5c4c799540e7a9d057aa25
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spelling	oai:doaj.org-article:d69d40f09b5c4c799540e7a9d057aa252021-11-04T09:24:47ZX-linked adrenoleukodystrophy in a pediatric patient: A case report10.24875/RMU.200000831665-57962530-0709https://doaj.org/article/d69d40f09b5c4c799540e7a9d057aa252021-04-01T00:00:00Zhttps://www.medicinauniversitaria.org/frame_esp.php?id=130https://doaj.org/toc/1665-5796https://doaj.org/toc/2530-0709X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene leading to the accumulation of very long-chain fatty acids. A 6-year-old male started his condition 6 months ago with developmental regression and loss of visual acuity. Physical examination showed hyperpigmentation in the folds and strabismus of the left eye; ophthalmoscopy showed bilateral optic nerve atrophy, decreased osteotendinous reflexes, and ataxic gait. Adrenal function was evaluated, finding elevated adrenocorticotropic hormone (ACTH). It was decided to start hormone replacement therapy, and he was sent to the department of genetics, who started treatment with Lorenzo’s oil. He presented an infectious condition requiring hospitalization; 1 week after this event, he attended pediatric endocrinology with new ACTH results showing a poor response to treatment, doses were adjusted. Three months later, he came with a deterioration of symptoms, so a new treatment was started and new studies were requested. The clinical presentation, in this case, is atypical to X-ALD. The progression of the disease is rapid with characteristics similar to MLD, which implies a greater challenge in the diagnosis. Graciela A. López-UriarteLeonor G. Hinojosa-AmayaLaura G. Peña-BalboaEfrain de J. Medina-CruzPermanyerarticleX-linked adrenoleukodystrophy. Addison’s disease. Adrenal insufficiency. Peroxisomal disease. Metachromatic leukodystrophy.Medicine (General)R5-920ENESMedicina Universitaria, Vol 23, Iss 2 (2021)
institution	DOAJ
collection	DOAJ
language	EN ES
topic	X-linked adrenoleukodystrophy. Addison’s disease. Adrenal insufficiency. Peroxisomal disease. Metachromatic leukodystrophy. Medicine (General) R5-920
spellingShingle	X-linked adrenoleukodystrophy. Addison’s disease. Adrenal insufficiency. Peroxisomal disease. Metachromatic leukodystrophy. Medicine (General) R5-920 Graciela A. López-Uriarte Leonor G. Hinojosa-Amaya Laura G. Peña-Balboa Efrain de J. Medina-Cruz X-linked adrenoleukodystrophy in a pediatric patient: A case report
description	X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene leading to the accumulation of very long-chain fatty acids. A 6-year-old male started his condition 6 months ago with developmental regression and loss of visual acuity. Physical examination showed hyperpigmentation in the folds and strabismus of the left eye; ophthalmoscopy showed bilateral optic nerve atrophy, decreased osteotendinous reflexes, and ataxic gait. Adrenal function was evaluated, finding elevated adrenocorticotropic hormone (ACTH). It was decided to start hormone replacement therapy, and he was sent to the department of genetics, who started treatment with Lorenzo’s oil. He presented an infectious condition requiring hospitalization; 1 week after this event, he attended pediatric endocrinology with new ACTH results showing a poor response to treatment, doses were adjusted. Three months later, he came with a deterioration of symptoms, so a new treatment was started and new studies were requested. The clinical presentation, in this case, is atypical to X-ALD. The progression of the disease is rapid with characteristics similar to MLD, which implies a greater challenge in the diagnosis.
format	article
author	Graciela A. López-Uriarte Leonor G. Hinojosa-Amaya Laura G. Peña-Balboa Efrain de J. Medina-Cruz
author_facet	Graciela A. López-Uriarte Leonor G. Hinojosa-Amaya Laura G. Peña-Balboa Efrain de J. Medina-Cruz
author_sort	Graciela A. López-Uriarte
title	X-linked adrenoleukodystrophy in a pediatric patient: A case report
title_short	X-linked adrenoleukodystrophy in a pediatric patient: A case report
title_full	X-linked adrenoleukodystrophy in a pediatric patient: A case report
title_fullStr	X-linked adrenoleukodystrophy in a pediatric patient: A case report
title_full_unstemmed	X-linked adrenoleukodystrophy in a pediatric patient: A case report
title_sort	x-linked adrenoleukodystrophy in a pediatric patient: a case report
publisher	Permanyer
publishDate	2021
url	https://doaj.org/article/d69d40f09b5c4c799540e7a9d057aa25
work_keys_str_mv	AT gracielaalopezuriarte xlinkedadrenoleukodystrophyinapediatricpatientacasereport AT leonorghinojosaamaya xlinkedadrenoleukodystrophyinapediatricpatientacasereport AT lauragpenabalboa xlinkedadrenoleukodystrophyinapediatricpatientacasereport AT efraindejmedinacruz xlinkedadrenoleukodystrophyinapediatricpatientacasereport
_version_	1718444993603960832

X-linked adrenoleukodystrophy in a pediatric patient: A case report

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