|Title:||Tuberous Sclerosis in Children||Authors:||HOU, JIA-WOEI
WANG, TSO -REN
|Keywords:||結性硬化症;tuberous sclerosis;seizure;mental retardation;cutaneous lesions||Issue Date:||1994||Start page/Pages:||102-107||Source:||中華民國小兒科醫學會雜誌,v.35||Abstract:||
Tuberous 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.
|Appears in Collections:||醫學系|
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