The Relevance Of The Research Between Cortical Tuberous Features And Clinical Phenotype In Children With Tuberous Sclerosis Complex Based On Magnetic Resonance Imaging Of Qualitative Diagnosis

Objective: To explore the relationship between cortical tuberous features and clinical phenotype,using head magnetic resonance imaging(MRI)for qualitative diagnosis of intracerebral tuberous seen in children of tuberous sclerosis complex(TSC).Methods: Collected the clinical data of children diagnosed with TSC from pediatric department of PLA general hospital from Sep.2013 to Oct.2015.Analyzed the dominant types of tubers based on the MRI signal intensity of their subcortical white matter component,and other neuroanatomical characteristics and chinical manifestation.In order to have further understanding of genetic characteristics,genetic testing were also accomplished.Results: According to the inclusion criteria,there were 150 cases effective.There were 77 males and 73 females in the 150 children,who were 2 months to 14.3 years old.Their median age of epilepsy onset was 7 months.There were 41.3% of the children with history of infantile spasms,90.0% of the children with uncontrolled seizures,and 76.7% of the children who take more than one anti-epileptic drug.53.1% of the patients suffered mental retardation while 45.8% of the patients have an autism spectrum disorder.The proportion of children with Subependymal nodules(SENs),Subependymal giant cell astrocytomas(SEGAs),white matter lesion and cerebellar tuberous were respectively 94%,4.7%,23.3% and 6.7%.68 cases had the examination of cranial CT,with finding 57.4% of them having cortical calcification.According to the MRI signal intensity of tuberous seen in the children,they were divided into group A,B,C,D and E(with no cortical tuberous),with respectively accounting for 19.3%,43.3%,15.3%,18.0%,4%.The median age of the children having their most recent MRI was 21 months old.And the dominant types D were frequently seen in 0 to 36 months(P<0.05).The age of epilepsy onset of the children were varied from different groups(P<0.05).The proportion of five groups of tuberous types undergoing infantile spasms were respectively 17.2%,38.5%,52.2%,63.0%,50%,with of which was statistically lower in group A(P<0.05).Compared to the children of other tuberous types,the children in the dominant types C were more likely to have cognitive impairment.There are only 50% of the children having Subependymal nodules in the group E.118 cases of children with tuberous sclerosis completed the genetic testing,with 20.3% of TSC1 mutations,79.7% of TSC2 mutations.Significant differences between groups were noted with respect to TSC1 mutation(P<0.05).Conclusions: The MRI signal intensity of tuberous type D is characterized by hyperintense on T1 weighted.The peak age of the dominant tuberous type D was 5 months.Patients with type A were less likely to have a history of infantile spasms,a lower frequency of developmental disorder and TSC2 gene mutation,and have older ages of epilepsy onset,compared to patients who have a dominance of other tuberous types.