摘要
目的探讨结节性硬化的临床和影像学特点。方法对1例结节性硬化患者及其家系的临床资料进行回顾性分析。结果先证者临床表现以癫痫发作起病,多年后出现面部皮脂腺瘤及甲沟纤维瘤;超声检查示肾脏错构瘤;头颅CT示颅内多发钙化灶。家系调查显示为常染色体显性遗传。结论结节性硬化的临床表现多样,常见的有癫痫、智力低下、血管纤维瘤等。结节性硬化的临床表现有年龄遗传效应的特点。头颅CT检查及家系调查有助于诊断。
Objective To investigate the clinical and imaging features of tuberous sclerosis. Methods Clinical data of a patient with tuberous sclerosis and her family were analyzed retrospectively. Results The clinical manifestations of the proband was onset as seizure, then appeard as adenoma sebaceum on the face and fibroma in the nail groove at many years later. Uhrasound examination showed renal angiomyolipoma, and CT showed intracranial muhiple calcification focus. Family survey showed autosomal dominent inherritence. Conclusions The clinical manifestations of tuberous sclerosis are diversiform, and the seizure, mental retardation and angiofibroma are Ihe common manifestations. There is a characteristic of the clinical manifestations of tuberous sclerosis as heredity effect of age. The CT examination and family survey are helpful to diagnose.
出处
《临床神经病学杂志》
CAS
北大核心
2012年第5期368-369,共2页
Journal of Clinical Neurology
关键词
结节性硬化
家系
临床特点
影像学
tuberous sclerosis
family
elinieal features
imaging
