Long-Term Prognosis of Epilepsies and Related Seizure Disorders in Fukuyama-Type Congenital Muscular Dystrophy
Long-Term Prognosis of Epilepsies and Related Seizure Disorders in Fukuyama-Type Congenital Muscular Dystrophy
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福山型先天性肌营养不良症患者癫痫和相关癫痫发作的长期预后
DOI：
10.1177/08830738050200041901
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发表时间：
2004
影响因子：
1.9
通讯作者：
Y. Higuchi
中科院分区：
文献类型：
--
作者：
M. Yoshioka;Y. Higuchi
福山型先天性肌营养不良症是一种流行于日本的常染色体隐性遗传病，以先天性肌营养不良症、鹅卵石般的无脑畸形和眼睛畸形为特征。我们对46例福山型先天性肌营养不良症患者进行了3年以上的随访，特别是对癫痫的远期预后和癫痫发作与神经病理异常的关系进行了研究。37例(80%)患者出现癫痫发作。平均发病年龄3岁零1个月。最初的癫痫发作通常发生在发烧发作之后，尽管三分之一的患者从一开始就有发烧发作。所有患者均有发热障碍时的全身性强直阵挛发作，继发复杂部分性发作或继发性全身性发作。后来，这些癫痫发作在三名患者中发展为Lennox-Gastaut综合征。37例癫痫患者中有22例(59%)出现阵发性放电。主要病灶在额区、颞区或中央区。经计算机断层扫描、磁共振成像或尸检发现有明显皮质发育不良的病变在EEG上显示局灶性阵发性放电。(《儿童神经症杂志》2005；20：385-391)。
Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder prevalent in Japan that is characterized by congenital muscular dystrophy, cobblestone lissencephaly, and eye anomalies. We examined 46 patients with Fukuyama-type congenital muscular dystrophy and followed their progress for more than 3 years, with special reference to long-term prognosis of seizure disorders and the relationship between seizures and neuropathologic abnormalities. Seizures were observed in 37 patients (80%). The average age at onset was 3 years, 1 month. Initial seizures usually occurred after a febrile episode, although one third of patients had afebrile seizures from the onset. All patients had generalized tonic-clonic convulsions at febrile disorders, and these were followed by complex partial seizures or secondary generalized seizures. Later these seizures developed into Lennox-Gastaut syndrome in three patients. Electroencephalography (EEG) showed paroxysmal discharges in 22 of 37 patients with seizures (59%). The main focus was in the frontal, temporal, or central region. Lesions with marked cortical dysplasia detected by computed tomography, magnetic resonance imaging, or autopsy showed focal paroxysmal discharges on EEG. (J Child Neurol 2005;20:385—391).
影响因子：
64.8
作者：
Kobayashi, K;Nakahori, Y;Toda, T
通讯作者：
Toda, T