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Case Report on Tuberous Sclerosis

Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 3)

Publication Date:

Authors : ;

Page : 1558-1561

Keywords : Adenoma sebaceum; Seizure; Shagreen Patch;

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Abstract

Tuberous Sclerosis Complex is a rare genetic disorder inherited in autosomal dominant fashion. Tuberous Sclerosis Complex or Bourneville?s 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.

Last modified: 2021-06-27 15:59:27