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目的探讨以反复癎性发作为主要表现的散发型结节性硬化患者的临床和影像学特点。方法对1例有典型皮肤表现和反复癎性发作的结节性硬化患者的临床资料进行回顾性分析。结果患者无家族史,临床表现以婴儿期癫癎发作起病,皮肤表现包括皮肤长树叶形色素脱失斑,颜面部鼻唇沟周围及颈部皮脂腺瘤,指甲营养不良及甲沟纤维瘤;头颅CT示室管膜下多发钙化灶。结论结节性硬化是常染色体显性遗传病,影响多个器官和系统,临床表现多样,常见的有癫癎、智力低下、血管纤维瘤等,皮肤特征性表现有诊断意义,头颅CT检查有助于诊断。
Objective To investigate the clinical and radiological features of patients with sporadic tuberous sclerosis, with repeated 癎 onset as the main manifestation. Methods A retrospective analysis was performed on the clinical data of 1 case of tuberous sclerosis with typical skin manifestations and recurrent seizures. Results The patients had no family history. The clinical manifestations were onset of infantile epilepsy. The skin manifestations included long foliaceous depigmentation of the skin, peripheral nasolabial folds and neck sebaceous gland tumors, nail malnutrition, Head CT showed subependymal calcification. Conclusions Tuberous sclerosis is an autosomal dominant genetic disorder that affects multiple organs and systems and has various clinical manifestations. Common manifestations include epilepsy, mental retardation, angiofibroma, etc. The characteristic features of the skin are of diagnostic significance. To help diagnose.