Tuberous sclerosis with rhabdomyoma

V. Ajay; Vikram Singhal; Vardhelli Venkateshwarlu; S. M. Rajesh

doi:10.4103/0971-6866.112912

Tuberous sclerosis with rhabdomyoma

V. Ajay, Vikram Singhal^*, Vardhelli Venkateshwarlu, S. M. Rajesh

^*Corresponding author for this work

Department of Paediatrics, Kasturba Medical College, Mangalore

Research output: Contribution to journal › Article › peer-review

7 Citations (Scopus)

Abstract

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 11/2-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.

Original language	English
Pages (from-to)	93-95
Number of pages	3
Journal	Indian Journal of Human Genetics
Volume	19
Issue number	1
DOIs	https://doi.org/10.4103/0971-6866.112912
Publication status	Published - 01-01-2013

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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AU - Singhal, Vikram

AU - Venkateshwarlu, Vardhelli

AU - Rajesh, S. M.

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AB - 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 11/2-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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Tuberous sclerosis with rhabdomyoma

Abstract

All Science Journal Classification (ASJC) codes

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