Re: Tuberous sclerosis
bingousmle - 07-27-08 14:06

-synonym -EPILOIA E-EPILEPSY;LOI -LOW INTELLIGENCE;A-ADENOMA SEBACEUM/angiofibroma
-patients develop hamartomas in cns/ and tubers- firm areas with haphazardly arranged neurons and glia
-risk of development rhabdomyoma of heart, angiomyolipoma of kidney
-mutations of hamartin and tuberin

Re: Tuberous sclerosis
sshahraz - 07-27-08 17:01

Thanks bingo..
It is one of those conditions that cannot collect it! I know the triad of SEIZURE, MENTAL RETARDATION, AND LEUKODRMA (ADENOMA SEBACEUM) is something that is memorizable. I have seen it the tests also the rhabdomyoma of heart which is (as I remember) by far the most prevalent tumor in TS.

Re: Tuberous sclerosis
bingousmle - 07-31-08 11:47

you are welcome,well this condition is imprinted on my mind as i happened to see a patient during my skin postings who was a text book picture of the condition

Re: Tuberous sclerosis
babbu5508 - 07-28-10 04:16

A combination of symptoms may include seizures, developmental delay, behavioral problems, skin abnormalities, lung and kidney disease. TSC is caused by mutations on either of two genes, TSC1 and TSC2, which encode for the proteins hamartin and tuberin respectively.