CLINICAL MANIFESTATIONS OF AND MAJOR COMPLICATIONS ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THAI CHILDREN

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with variable clinical manifestations. The clinical features of and major complications associated with TSC in Thai children have never before been reported. The objective of this study was to investigate and report the-clinical manifestations of and major complications associated with tuberous sclerosis complex (TSC) in Thai children. This cross sectional study was conducted in children aged 0-15 years who were diagnosed with TSC and treated at 1 of 10 tertiary care hospitals in Thailand during the January 2000 to December 2010 study period. Of 176 patients diagnosed with TSC during the study period, definite TSC was confirmed in 167 patients. Median age at presentation was 8 months, and only half of patients were diagnosed at initial,presentation. The most common presenting symptoms were seizures (74.9%), skin lesions (10.2%), and cardiac manifestations (8.4%). Associated clinical features included at least one skin lesion (99.4%); epilepsy (89.2%); and neurobehavioral disorders,including pervasive developmental disorders, attention deficit hyperactivity disorder, developmental delay/mental retardation (58.1%), cardiac rhabdomyoma (54.5%), renal angiomyolipoma (AML) (42.2%), retinal astrocytoma (37.4%), and subependymal astrocytoma (18.7%). This is the first study to describe the clinical features of and major complications associated with TSC in Thai pediatric patients. The findings from this study are similar to those described in previous reports. Only half of patients were diagnosed at the initial visit. Delay in diagnosis may be due to the fact that multisystem involvement is slow to develop, and this can make TSC difficult to recognize when a patient presents with only one symptom. We recommend that any child presenting with seizure, developmental delay, and/or a finding of cardiac rhabdomyoma should be investigated for TSC. If TSC is diagnosed, regular clinical examination and surveillance should be performed in order to early detect evolving TSC complications.