Case Report on Tuberous Sclerosis
Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 3)Publication Date: 2020-03-05
Authors : Amar Singh Thakur;
Page : 1558-1561
Keywords : Adenoma sebaceum; Seizure; Shagreen Patch;
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.
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