Tuberous sclerosis.
Tuberous sclerosis or Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of numerous benign tumours in many parts of the body caused by mutations on either of two genes, TSC1 and TSC2. The case of a 31 year old female who fulfilled 8 major criteria of Tuberous Sclerosis Complex is reported. Multiple research work projects are being carried out on this disease, unfolding the realities regarding its etiology as well as treatment. TSC patients, besides receiving symptomatic treatment should also be offered special schooling and regular follow up by expert physician.
Syed
Kaukab Naeem
KN
Department of Medicine, PIMS, Islamabad.
D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002220:Carbamazepine / Q000627:therapeutic use; D005260:Female; D006801:Humans; D000077287:Levetiracetam; D009154:Mutation; D010889:Piracetam / Q000031:analogs & derivatives / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism
D000927:Anticonvulsants; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D002220:Carbamazepine; D000077287:Levetiracetam; D010889:Piracetam