Rett Syndrome in Males: A Case Report and Review of Literature

Rett syndrome (RTT) is a neurodevelopmental disorder in which a period of normal development is followed by regression of previously acquired skills. RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it i...

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Detalles Bibliográficos
Autores principales: Chahil, Gurneet, Yelam, Anudeep, Bollu, Pradeep C
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281444/
https://www.ncbi.nlm.nih.gov/pubmed/30538901
http://dx.doi.org/10.7759/cureus.3414
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author Chahil, Gurneet
Yelam, Anudeep
Bollu, Pradeep C
author_facet Chahil, Gurneet
Yelam, Anudeep
Bollu, Pradeep C
author_sort Chahil, Gurneet
collection PubMed
description Rett syndrome (RTT) is a neurodevelopmental disorder in which a period of normal development is followed by regression of previously acquired skills. RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it is not a female-only disorder as cases of males with similar phenotype were reported. RTT was considered lethal in males as it has an X-linked dominant inheritance. The purpose of this review is to report a case of RTT in young male and elaborate genetics and phenomenology of this disorder in males.
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spelling pubmed-62814442018-12-11 Rett Syndrome in Males: A Case Report and Review of Literature Chahil, Gurneet Yelam, Anudeep Bollu, Pradeep C Cureus Genetics Rett syndrome (RTT) is a neurodevelopmental disorder in which a period of normal development is followed by regression of previously acquired skills. RTT was originally thought to be present exclusively in females. However, advances in genetic testing and phenotypic identification revealed that it is not a female-only disorder as cases of males with similar phenotype were reported. RTT was considered lethal in males as it has an X-linked dominant inheritance. The purpose of this review is to report a case of RTT in young male and elaborate genetics and phenomenology of this disorder in males. Cureus 2018-10-04 /pmc/articles/PMC6281444/ /pubmed/30538901 http://dx.doi.org/10.7759/cureus.3414 Text en Copyright © 2018, Chahil et al. http://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 Genetics
Chahil, Gurneet
Yelam, Anudeep
Bollu, Pradeep C
Rett Syndrome in Males: A Case Report and Review of Literature
title Rett Syndrome in Males: A Case Report and Review of Literature
title_full Rett Syndrome in Males: A Case Report and Review of Literature
title_fullStr Rett Syndrome in Males: A Case Report and Review of Literature
title_full_unstemmed Rett Syndrome in Males: A Case Report and Review of Literature
title_short Rett Syndrome in Males: A Case Report and Review of Literature
title_sort rett syndrome in males: a case report and review of literature
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6281444/
https://www.ncbi.nlm.nih.gov/pubmed/30538901
http://dx.doi.org/10.7759/cureus.3414
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