结节性硬化症不同年龄的临床特点及婴幼儿特征

Clinical features of tuberous sclerosis complex:in different age groups of children

目的 分析不同年龄结节性硬化症患者的临床特点,提高早期诊断率。方法回顾性调查结节性硬化症患者69例,并对其中21例进行随访;将患者分为0～2岁组、2～5岁组及〉5岁组,分析结节性硬化症诊断标准中常见诊断条件的发生率及年龄分布规律。结果 0～2岁组色素脱失斑（84%）发生率最高,其它依次为室管膜下结节（78%）、癫痫（74%）、心脏横纹肌瘤（33%）、脑皮质结节（33%）、肾脏表现（20%）。2～ 5岁组色素脱失斑（91%）、室管膜下结节（91%）和癫痫（90%）最高,面部纤维瘤（65%）次之,其它为脑皮质结节（50%）、肾脏表现（45%）、眼底改变（40%）、心脏横纹肌瘤（33%）。结论 除心脏横纹肌瘤外,TSC临床表现的发生率均随年龄呈上升趋势,婴幼儿TSC临床表现有其自身特点,色素脱失斑、室管膜下结节和癫痫为主要特征。

Objective To investigate the clinical features of tuberous sclerosis complex（TSC） in different age groups and to improve its early diagnosis. Methods Sixty-nine patients with definite TSC were reviewed retrospectively. The relatively familiar manifestations in TSC diagnostic criterion were evaluated in different age groups（including 0-2 years,2-5 years and 〉5 years）. Results In 0-2 years of age with TSC,hypomelanotic macules（84% ） had the highest frequency of manifestations. The other clinical findings of TSC in turn were subependymal nodule（78 % ）, epilepsy（74 % ）, cardiac rhabdomyoma（33 % ） and cortical tuber（33 % ）, abnormal renal findings（20% ）. In 2 - 5 years of age , hypomelanotic macules accounted for 91%, and subependymal nodule（91% ）, epilepsy（90% ）, facial angiofibromas（65%）, cortical tuber（50% ）, abnormal renal findings （45 % ）, ophthalmic manifestations（40 % ）, cardiac rhabdomyom （33 % ）. Conclusion Except for cardiac rhahdomyoma, the frequency of clinical manifestations of TSC was gradually increased with ages, hypomelanotic macules, subependymal nodule and epilepsy were 3 main clinical manifestations of infant patients with TSC.