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以吸胶行为为表现的肾上腺脑白质营养不良。

Adrenoleukodystrophy presenting as glue sniffing.

作者信息

Meher Rajesh Kumar, Aghoram Rajeswari, Nair Pradeep Pankajakshan

机构信息

Neurology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India.

Neurology, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Puducherry, India

出版信息

BMJ Case Rep. 2020 Mar 12;13(3):e233036. doi: 10.1136/bcr-2019-233036.

DOI:10.1136/bcr-2019-233036
PMID:32169980
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7069253/
Abstract

Adrenoleukodystrophy classically presents in childhood with bronze skin, spastic tetraparesis, dysphagia, behavioural abnormalities and adrenal insufficiency. However, atypical presentations are known. Here we report an adolescent with adrenoleukodystrophy who first sought medical attention for glue sniffing.

摘要

肾上腺脑白质营养不良典型表现为儿童期出现青铜色皮肤、痉挛性四肢瘫、吞咽困难、行为异常和肾上腺功能不全。然而,非典型表现也为人所知。在此,我们报告一名患有肾上腺脑白质营养不良的青少年,其最初因吸胶而就医。

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本文引用的文献

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Unusual brain images of a boy with adolescent cerebral X-linked adrenoleukodystrophy presenting with exhibitionism: A CARE-compliant case report.一名患有青少年型X连锁肾上腺脑白质营养不良并伴有露阴癖的男孩的异常脑部影像:一份符合CARE标准的病例报告。
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Adolescent-onset X-linked Adrenoleukodystrophy Presenting as Treatment-resistant Bipolar Disorder.青少年起病的X连锁肾上腺脑白质营养不良表现为难治性双相情感障碍。
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Psychiatric disease in an adolescent as a harbinger of cerebral X-linked adrenoleukodystrophy.青少年精神疾病作为X连锁肾上腺脑白质营养不良症的先兆
Pract Neurol. 2018 Jun;18(3):242-245. doi: 10.1136/practneurol-2017-001718. Epub 2017 Nov 24.
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Can psychiatric childhood disorders be due to inborn errors of metabolism?儿童期精神障碍会是由先天性代谢缺陷引起的吗?
Eur Child Adolesc Psychiatry. 2017 Feb;26(2):143-154. doi: 10.1007/s00787-016-0908-4. Epub 2016 Sep 30.
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Pathophysiology of X-linked adrenoleukodystrophy.X 连锁肾上腺脑白质营养不良的病理生理学。
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Adolescent toluene inhalation in rats affects white matter maturation with the potential for recovery following abstinence.大鼠青春期吸入甲苯会影响白质成熟,戒断后有恢复的可能。
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X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.X 连锁肾上腺脑白质营养不良(X-ALD):临床表现及诊断、随访和管理指南。
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Oxidative stress effects of thinner inhalation.吸入稀释剂的氧化应激效应。
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General aspects and neuropathology of X-linked adrenoleukodystrophy.X连锁肾上腺脑白质营养不良的一般情况和神经病理学
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