Abstract:

Objective To analyse the clinical phenotype and genotype of tuberous sclerosis complex (TSC) and improve the diagnostic level of TSC.Methods Patients were retrospectively collected from Aug. 2013 to Sept. 2015 hospitalized in Children′s Hospital of Fudan University, who were diagnosed with 2012 revised diagnostic criteria for TSC. Data of clinical phenotype included brain, skin, heart, kidney and eyes were intercepted. Patients were divided into the age of <1 year, -3 years, -6 years, -13 years and -18 years groups, statistics was made to get detection rate and the correlation was analysed between genetic mutation and clinical phenotype.Results A total of 105 cases diagnosed as TSC were recruited into the study including 54 males and 51 females. Age of visit was ranged from 2 months to 13 years. ① Reason for the first visit: 83 cases (79.0%) for seizure, 8 cases (7.6%) for abnormal of skin and 5 cases (4.8%) for cardiac tumor. ②39 cases (37.1%) were diagnosed only with clinical phenotype; 47(44.8%) with clinical phenotype and genetic testing; 2 cases (1.9%) with clinical suspicious but gene positive. ③Clinical characteristics detection rate: Subependymal nodules were in 91/99 cases(91.9%), cortical dysplasias were in 81/99 cases(81.8%), which was similar with other different age groups. Hypomelanotic macules were in 97/105 cases(92.4%), angiofibromas were in 55 cases(52.4%), shagreen patch in 46 cases(43.8%), the detection rate of angiofibromas and shagreen patch rised with age. Cardiac rhabdomyomas were in 25/75 cases(33.3%)，the detection rate descended with age; renal lesions were in 14/71 cases(19.7%); ocular lesions were in 5/37 cases(13.5%). ④TSC1 mutation was detected in 15/66 cases (22.7%)，TSC2 mutation was detected in 34/66 cases (51.5%)；spasm was more common in patients with TSC2 mutation (29.4% vs 13.3%).Conclusion TSC is an extremely variable disease that can affect multiple important organs. The detection rates of brain lesion were similar among different age and cardiac rhabdomyomas decreased with age. Gene test conduced to the diagnosis of clinical suspect cases.