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X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES

OBJECTIVE: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. METHODS: Specific data related to epidemiology, phenotype, diagnosis and treatm...

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Autores principales: Furlan, Fernanda Luiza Schumacher, Lemes, Macleise Andres, Suguimatsu, Ligia Cecilia Fuverki, Pires, Carolina Teixeira Furquim, Santos, Mara Lucia Schmitz Ferreira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821490/
https://www.ncbi.nlm.nih.gov/pubmed/31241695
http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00015
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author Furlan, Fernanda Luiza Schumacher
Lemes, Macleise Andres
Suguimatsu, Ligia Cecilia Fuverki
Pires, Carolina Teixeira Furquim
Santos, Mara Lucia Schmitz Ferreira
author_facet Furlan, Fernanda Luiza Schumacher
Lemes, Macleise Andres
Suguimatsu, Ligia Cecilia Fuverki
Pires, Carolina Teixeira Furquim
Santos, Mara Lucia Schmitz Ferreira
author_sort Furlan, Fernanda Luiza Schumacher
collection PubMed
description OBJECTIVE: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. METHODS: Specific data related to epidemiology, phenotype, diagnosis and treatment of 24 patients with X-linked adrenoleukodystrophy were collected. A qualitative cross-sectional and descriptive-exploratory analysis was performed using medical records from a reference center in Neuropediatrics in Curitiba, Brazil, as well as an electronic questionnaire. RESULTS: The majority (79%) of patients had cerebral demyelinating inflammatory adrenoleukodystrophy, presenting aphasia, hyperactivity and vision disorders as the main initial symptoms. These symptoms appeared, on average, between six and seven years of age. There was a mean delay of 11 months between the onset of symptoms/signs and the diagnosis. Patients sought diagnosis mainly with neuropediatricians, and the main requested tests were dosage of very long chain fatty acids and brain magnetic resonance. CONCLUSIONS: All phenotypes of X-linked adrenoleukodystrophy, except for myelopathy in women, were presented in the studied population, which mainly consisted of children and adolescents. Prevalent signs and symptoms registered in the literature were observed. Most of the patients with cerebral demyelinating inflammatory adrenoleukodystrophy were not diagnosed in time for hematopoietic stem cell transplantation.
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spelling pubmed-68214902019-11-05 X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES Furlan, Fernanda Luiza Schumacher Lemes, Macleise Andres Suguimatsu, Ligia Cecilia Fuverki Pires, Carolina Teixeira Furquim Santos, Mara Lucia Schmitz Ferreira Rev Paul Pediatr Original Article OBJECTIVE: To describe patients with different phenotypes of X-linked adrenoleukodystrophy: pre-symptomatic, cerebral demyelinating inflammatory adrenoleukodystrophy, adrenomyeloneuropathy and adrenal insufficiency only. METHODS: Specific data related to epidemiology, phenotype, diagnosis and treatment of 24 patients with X-linked adrenoleukodystrophy were collected. A qualitative cross-sectional and descriptive-exploratory analysis was performed using medical records from a reference center in Neuropediatrics in Curitiba, Brazil, as well as an electronic questionnaire. RESULTS: The majority (79%) of patients had cerebral demyelinating inflammatory adrenoleukodystrophy, presenting aphasia, hyperactivity and vision disorders as the main initial symptoms. These symptoms appeared, on average, between six and seven years of age. There was a mean delay of 11 months between the onset of symptoms/signs and the diagnosis. Patients sought diagnosis mainly with neuropediatricians, and the main requested tests were dosage of very long chain fatty acids and brain magnetic resonance. CONCLUSIONS: All phenotypes of X-linked adrenoleukodystrophy, except for myelopathy in women, were presented in the studied population, which mainly consisted of children and adolescents. Prevalent signs and symptoms registered in the literature were observed. Most of the patients with cerebral demyelinating inflammatory adrenoleukodystrophy were not diagnosed in time for hematopoietic stem cell transplantation. Sociedade de Pediatria de São Paulo 2019-06-19 /pmc/articles/PMC6821490/ /pubmed/31241695 http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00015 Text en https://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License
spellingShingle Original Article
Furlan, Fernanda Luiza Schumacher
Lemes, Macleise Andres
Suguimatsu, Ligia Cecilia Fuverki
Pires, Carolina Teixeira Furquim
Santos, Mara Lucia Schmitz Ferreira
X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title_full X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title_fullStr X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title_full_unstemmed X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title_short X-LINKED ADRENOLEUKODYSTROPHY IN BRAZIL: A CASE SERIES
title_sort x-linked adrenoleukodystrophy in brazil: a case series
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821490/
https://www.ncbi.nlm.nih.gov/pubmed/31241695
http://dx.doi.org/10.1590/1984-0462/;2019;37;4;00015
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