Tuberous sclerosis with rhabdomyoma

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

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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 languageEnglish
Pages (from-to)93-95
Number of pages3
JournalIndian Journal of Human Genetics
Volume19
Issue number1
DOIs
Publication statusPublished - 01-01-2013

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All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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