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Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness
Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic t...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621881/ https://www.ncbi.nlm.nih.gov/pubmed/37927661 http://dx.doi.org/10.7759/cureus.46426 |
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author | Carvalho, Margarida M Jesus, Rafael Mendes, Ana Guimarães, Pedro Conde, Bebiana |
author_facet | Carvalho, Margarida M Jesus, Rafael Mendes, Ana Guimarães, Pedro Conde, Bebiana |
author_sort | Carvalho, Margarida M |
collection | PubMed |
description | Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there are no treatments available to cure or delay disease progression. This report describes a case of a 23-year-old male diagnosed with Wolfram syndrome who presented to the emergency department with several episodes of loss of consciousness. This case reinforces the need for an early diagnosis of obstructive and central apneas, respiratory failure, and dysphagia, in order to prevent and treat the complications of this disease and to improve patients’ quality of life. |
format | Online Article Text |
id | pubmed-10621881 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-106218812023-11-03 Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness Carvalho, Margarida M Jesus, Rafael Mendes, Ana Guimarães, Pedro Conde, Bebiana Cureus Neurology Wolfram syndrome is a rare, multisystemic, progressive, and autosomal-recessive genetic disease, characterized by diabetes mellitus and diabetes insipidus, optic nerve atrophy, deafness, and other neurological signs. The diagnosis is usually based on history and clinical manifestations but genetic tests are necessary for confirmation. Currently, there are no treatments available to cure or delay disease progression. This report describes a case of a 23-year-old male diagnosed with Wolfram syndrome who presented to the emergency department with several episodes of loss of consciousness. This case reinforces the need for an early diagnosis of obstructive and central apneas, respiratory failure, and dysphagia, in order to prevent and treat the complications of this disease and to improve patients’ quality of life. Cureus 2023-10-03 /pmc/articles/PMC10621881/ /pubmed/37927661 http://dx.doi.org/10.7759/cureus.46426 Text en Copyright © 2023, Carvalho et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Neurology Carvalho, Margarida M Jesus, Rafael Mendes, Ana Guimarães, Pedro Conde, Bebiana Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title | Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title_full | Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title_fullStr | Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title_full_unstemmed | Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title_short | Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness |
title_sort | wolfram syndrome: a curious case of repetitive loss of consciousness |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621881/ https://www.ncbi.nlm.nih.gov/pubmed/37927661 http://dx.doi.org/10.7759/cureus.46426 |
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