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Research Paper | Paediatrics | India | Volume 9 Issue 3, March 2020 | Popularity: 6.1 / 10
Case Report on Tuberous Sclerosis
Dr. Amar Singh Thakur, Ajay Vaid, Mohit Bajaj
Abstract: Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. Tuberous Sclerosis Complex or Bournevilles disease, first described by Desiree Magloire Bourneville in 1880 has a prevalence of 1 in 6000 live births1. It is a multisystem disorder involving brain, skin, kidneys, heart, eyes and lungs which becomes apparent only in late childhood, limiting the usefulness in early diagnosis in infancy. Here we report a case of 9 year old female child presenting with chief complaints of skin lesions, developmental delay and seizures in Regional Hospital, Kullu and diagnosed as Tuberous Sclerosis.
Keywords: Adenoma sebaceum, Seizure, Shagreen Patch, Tuberous Sclerosis
Edition: Volume 9 Issue 3, March 2020
Pages: 1558 - 1561
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