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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...

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Autores principales: Carvalho, Margarida M, Jesus, Rafael, Mendes, Ana, Guimarães, Pedro, Conde, Bebiana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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.
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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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