小兒科HOU, JIA-WOEIJIA-WOEIHOUWANG, PEN-JUNGPEN-JUNGWANGWANG, TSO -RENTSO -RENWANG侯家瑋王本榮王作仁2008-11-072018-07-112008-11-072018-07-111994http://ntur.lib.ntu.edu.tw//handle/246246/86048Tuberous sclerosis (TS) is a multiple-system disease involving the brain, skin, kidneys, heart and other visceral argans. There were 18 children with TS at our clinic, and complete studies of these patients and their families were performed. Male to female ratio was 11:7. Age at diagnosis was from 1 month to 18 years. Seizures (infantile spasm, generalized and partial epilepsy), skin lesions and intracranial calcifications were the most common clinical manifestations. Mental retardation was closely correlated with weizure attacks. Neoplasms of the brain, retina, heart, lung and kidneys were all encountered. Hypopigmented macules, intracardiac tumors and infantile spasms were usually the first signs in younger ages and can give hints of early diagnosis of TS. In total, six patients had positive family histories and one of them had non- penetrating parents. Detailed family studies are mandatory prior th genetic counseling.en-US結性硬化症tuberous sclerosisseizuremental retardationcutaneous lesionsjournal article