The Clinical Study On Tuberous Sclerosis Complex And Mutational Analysis Of TSC2 In Cases Of A Pedigree

[Abstract]Objective: To study the relationship between clinical facturesand diagnosis criteria in patients with TSC and analysis the mutational typesof TSC2.Method: Follow-up or retrospective investigation were performed in69 patients with TSC. The major and minor clinical factures in TSC diagnosiscriteria were analyzed detailedly. TSC2 mutations were detected in 5patients with TSC, 4 cases and 1 sporadic case. Results: (1)The appearancerates of hypomelanotic macules, facial angiofibromas and subependymalnodule were seen in 94% , 88% and 93% of TSC respectively. (2)In childrenbelow 2 years of age the frequency rate in turn is hypomelanotic macules,subependymal nodule, epilepsy, cardiac rhabdomyoma, cortical macules,subependymal nodule, epilepsy, cardiac rhabdomyoma, cortical tuber andrenal findings.(3) The frequency rate of facial angiofibromas was elevatedobviously in 2-5 years of age.(4)In patients with TSC who have had a remissionof seizures, the relapse rate compares well with the relapse rate of allchildren with epilepsy.(4)A new missense mutation(T4037C, S1346P) in exon33 was found in 4 familial TSC patients. Conclusion:(1) The diagnosisdepended on cutaneous findings and neuroimagings can be made in near 90%TSC patients.(2) The clinic findings of TSC are age dependent.(3) It isreasonable to consider discontinuation of antiepileptic drugs in thepatients who attain seizure remission.(4) The substitution(T4037C, S1346P)of exon 33 we found in TSC2 is a new pathologic missense mutation.