结节性硬化症一家系4例报告

Nodular scierosis pedigree 4 example report

结节性硬化症（TSC）是一种常染色体显性遗传病,发病率为1/600-1/15400,以皮脂腺瘤,癫痫,智力低下为主要临床表现.癫痫发作为儿童最常见的主诉症状,发生率可达80% ～90%,开始常为痉挛样发作或失张性发作,随年龄增长,渐变为局限性发作或强直阵挛性发作,多数在2岁内发病,用抗癫药物可以控制.

Nodular sclerosis （TSC） is one kind of euchromosome dominant hereditary disease,the disease incidence rate is 1/600 --1/15400, take adenoma sebaceum, epilepsy, intelligence lowly as main clinical manifestation. The epileptic paroxysm sues the symptom for the child most common host,the formation rate may reach 80% - 90%, starts often or loses for the convulsion type outbreak opens the outbreak,grows along with the age, changes gradually for the limited outbreak or the strong straight clonic out- break, at 2 year old of endopathy,may control most with the anti--insane medicine.