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Published in 2020 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-233036
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…
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Keywords:
adrenoleukodystrophy;
presenting glue;
glue sniffing;
adrenoleukodystrophy presenting ... See more keywords
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Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201437
Abstract: A 49 -year-old man presented with progressive limb stiffness, slowness, cognitive impairment, and urinary disturbance over 2 years. An examination revealed skin hyperpigmentation, apathy, attention deficit, spastic dysarthria, symmetric upper limb rigidity, lower limb spasticity,…
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Keywords:
adrenoleukodystrophy presenting;
adult onset;
adrenoleukodystrophy;
onset adrenoleukodystrophy ... See more keywords
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Published in 2021 at "Arquivos de neuro-psiquiatria"
DOI: 10.1590/0004-282x-anp-2020-0294
Abstract: Received on June 22, 2020; Received in its final form on July 30, 2020; Accepted on September 19, 2020. A 27-year-old man presented with a two-year history of progressive ataxia. Family history was unremarkable. Examination…
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Keywords:
adrenoleukodystrophy presenting;
progressive ataxia;
involvement;
linked adrenoleukodystrophy ... See more keywords