Analysis of Overall Clinical Manifestations of Tuberous Sclerosis Complex Patients in the Childhood : Updated Diagnositic Criteria

Cho, Hyung Rae; Song, Seung Min; Yum, Mi Sun; Lee, Eun Hye; Jeong, Min Hee; Yoo, Han Wook; Ko, Tae Sung

Abstract

PURPOSE
The aim of this study is to analyze the patterns of presentation and progress of tuberous sclerosis complex (TSC) and the prevelance of items in diagrnostic criteria of TSC in the pediatric population group.
METHODS
We reviewed 74 patients diagnosed with TSC by clinical diagnostic criteria, who visited Asan Medical Center from April, 1991 to August, 2008.
RESULTS
Forty-four males and 30 females were enrolled with 2.3 years(0 days-15.4 years) of mean age at the diagnosis. Mean follow-up period was 3.2(0-12.6) years. Remarkable initial symptoms or signs at the first hospital visit were seizure(n=48, 64.9%), cardiac rhabdomyoma(n=15, 20.2%) and skin lesions(n=7, 9.5%). Seven of 74 patients(9.5%) had familial history of TSC. Seventy-one patients(95.9%) showed one or more brain lesions on the neuroimaging studies, including cortical tubers(n=69, 93.2%), subependymal nodules(n=71, 95.9%), subependymal giant cell astrocytomas(SEGA, n=5, 6.8%). Retinal astrocytic hamartomas were confirmed in 14 patients and suspicious in 4 patients. Skin lesions were detected in 58 patients(78%). Sixty-one patients(82%) had experienced one or more seizures and 58 were confirmed as epilepsy. Twenty-eight patients(38%) had experienced infantile spasm. Thirty-two of 52 patients evaluated(61.5%) had mental retardation. Gene studies were done in 13 patients and revealed two TSC1 gene mutations and seven TSC2 gene mutations.
CONCLUSION
Seizure attacks and skin lesions were two most common causes to visit hospital in pediatric TSC patients. Considering the high incidence of epilepsy and its correlation with poor neurodevelopemental outcome, early diagnosis and adequate treatment will lead to the better quality of life.