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| Clinical analysis of 71 children of tuberous sclerosis complex with epilepsy |
| ZHAO Qingqing1 HAN Yunli2▲ RUAN Yiyan1 FENG Juntan1 CHEN Yin1 CHEN Yuyi1 WANG Jinqiu1 HUANG Xuelin1 |
1.Department of Pediatric Neurology, the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Guangxi Zhuang Autonomous Region, Nanning 530000, China;
2.Department of Pediatrics, the First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, Nanning 530000, China |
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Abstract Objective To analyze the clinical data of 71 cases of tuberous sclerosis complex (TSC) with epilepsy, to summarize the clinical characteristics, and to improve the awareness of the disease. Methods Form June 2012 to December 2018, 71 cases of TSC with epilepsy who admitted to the First Affiliated Hospital of Guangxi Medical University and the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region were selected. Clinical feature, auxiliary examination, treatment outcome were retrospectively analyzed． Results The age of epilepsy onset was ranged from 1 d after birth to 13 years old. The onset forms of epilepsy: focal seizure was 26 cases (36.62%), generalized tonic-clonic seizure was 15 cases (21.13%), generalized convulsions seizure was 11 cases (15.49%), convulsive seizure was 18 cases (25.35%), and absence seizure was 1 case (1.41%). Sixty-six cases (92.96%) were complicated with skin lesions, 43 cases (60.56%) had low intelligence, 71 cases (100%) had abnormal head imaging examination, and 66 cases (92.96%) had abnormal electroencephalogram examination. Nineteen cases gene detetion were positive, 1 case was negative. All the 71 cases were treated with antiepileptic drugs (AEDs), and the total effective rate was 85.91%. Conclusion TSC with epilepsy is more common in children under 1 year old. They often associate with skin lesions and mental retardation, and involve multiple systems. Most epileptic seizures are difficult to control, need a variety of AEDs combined treatment.
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