Tuberous sclerosis with rhabdomyoma

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother havi...

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Autores principales: Ajay, V., Singhal, Vikram, Venkateshwarlu, Vardhelli, Rajesh, S. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722639/
https://www.ncbi.nlm.nih.gov/pubmed/23901201
http://dx.doi.org/10.4103/0971-6866.112912
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author Ajay, V.
Singhal, Vikram
Venkateshwarlu, Vardhelli
Rajesh, S. M.
author_facet Ajay, V.
Singhal, Vikram
Venkateshwarlu, Vardhelli
Rajesh, S. M.
author_sort Ajay, V.
collection PubMed
description Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.
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spelling pubmed-37226392013-07-30 Tuberous sclerosis with rhabdomyoma Ajay, V. Singhal, Vikram Venkateshwarlu, Vardhelli Rajesh, S. M. Indian J Hum Genet Case Report Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3722639/ /pubmed/23901201 http://dx.doi.org/10.4103/0971-6866.112912 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-accses article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ajay, V.
Singhal, Vikram
Venkateshwarlu, Vardhelli
Rajesh, S. M.
Tuberous sclerosis with rhabdomyoma
title Tuberous sclerosis with rhabdomyoma
title_full Tuberous sclerosis with rhabdomyoma
title_fullStr Tuberous sclerosis with rhabdomyoma
title_full_unstemmed Tuberous sclerosis with rhabdomyoma
title_short Tuberous sclerosis with rhabdomyoma
title_sort tuberous sclerosis with rhabdomyoma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722639/
https://www.ncbi.nlm.nih.gov/pubmed/23901201
http://dx.doi.org/10.4103/0971-6866.112912
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AT venkateshwarluvardhelli tuberoussclerosiswithrhabdomyoma
AT rajeshsm tuberoussclerosiswithrhabdomyoma

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