Asian Pacific Journal of Health Sciences

Yazarlar: Mohit Bajaj, Swati Mahajan, Rattan Sagar, Amit Kumar

Konular:-

DOI:10.21276/apjhs.2019.6.2.17

Anahtar Kelimeler:Adenoma sebaceum,Seizure,Shagreen Patch,Tuberous Sclerosis

Özet: 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 birth.. 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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