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
Descripción
Sumario: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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