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结节性硬化症16例临床特征和诊断 被引量:15

The clinical characteristics and diagnosis of tuberous sclerosis complex in 16 cases
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摘要 目的评价结节性硬化症的临床特征和CT、MRI对其诊断价值。方法对16例结节性硬化症患儿的临床资料进行分析。结果16例患儿的临床特征为起病年龄3岁以内15例,占93%,全部患儿均以癫痫发作为首发症状,有皮肤表现者13例,占81%,以色素脱失斑最多见,智力低下者3例,占19%,全部患儿均有脑CT或MRI改变,对3例不典型病例通过脑CT检查确诊。结论癫痫、特殊的皮肤损害为本病的主要临床特征,脑CT或MRI检查有助于明确诊断。 Objective To evaluate the clinical characteristics of tuberous sclerosis complex (TSC) and diagnostic values of computerized tomography (CT) and magnetic resonance imaging (MRI). Methods The clinical data of 16 children with TSC were studied prospectively. Results TSC in this group of children was characterized by the age of onset (before 3 years of age in 15 cases), seizure as the first symptom (in all the cases). skin lesions (in 13 cases). The most common skin lesion was hypomelanotic macules. Three cases had mental retardation. All patients showed CT or MRI changes in the brain. CT played an important role in the diagnosis of 3 atypical TSC cases. Conclusion Epilepsy and special skin lesions were the main clinical characteristics of TSC.CT or MRI examination could help establish a definite diagnosis.
出处 《中华儿科杂志》 CAS CSCD 北大核心 1999年第5期291-293,共3页 Chinese Journal of Pediatrics
关键词 儿童 结节性硬化症 癫痫 磁共振成像 CT 诊断 Tuberous sclerosisEpilepsyTomography, Xray computerizedMagnetic resonance imaging
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参考文献2

  • 1雷艳芬 梁承玮 等.失神发作与失神癫痫综合征.小儿癫痫与癫痫综合征[M].北京:人民卫生出版社,1997.49-53.
  • 2雷艳芬,小儿癫痫与癫痫综合征,1997年,49页

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