A SYNDROME OF AUTOSOMAL DOMINANT ALTERNATING HEMIPLEGIA - CLINICAL PRESENTATION MIMICKING INTRACTABLE EPILEPSY - CHROMOSOMAL STUDIES - AND PHYSIOLOGICAL INVESTIGATIONS
A SYNDROME OF AUTOSOMAL DOMINANT ALTERNATING HEMIPLEGIA - CLINICAL PRESENTATION MIMICKING INTRACTABLE EPILEPSY - CHROMOSOMAL STUDIES - AND PHYSIOLOGICAL INVESTIGATIONS
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DOI：
10.1212/wnl.42.12.2251
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发表时间：
1992-12-01
期刊：
影响因子：
9.9
通讯作者：
DANGOND, F
中科院分区：
文献类型：
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作者：
MIKATI, MA;MAGUIRE, H;DANGOND, F
我们报告了儿童交替性偏瘫的家族发生和明显的常染色体显性遗传。先证者是一名 9 岁男孩，表现为发育迟缓、罕见的强直阵挛性癫痫发作以及频繁发作的弛缓性交替性偏瘫，被认为代表发作后麻痹。他从第一年就开始出现偏瘫，多种抗癫痫药物均无效。在发作之间，存在舞蹈手足徐动症和张力障碍姿势。父亲，兄弟。叔叔和祖母有类似的交替偏瘫病史。检查包括 CT、代谢和凝血研究阴性。与非偏瘫期间相比，EEG 和 SPECT Tc-99m 考试他嗪扫描未能显示偏瘫期间皮质灌注有任何显着减慢或任何重大变化。核型显示患者、所有受影响的活着的亲属以及一名显然未受影响的兄弟姐妹中存在平衡的相互易位，46,XY,t(3;9)(p26;q34)。无症状母亲的核型正常。 DNA标记分析与核型结果一致。受影响的兄弟姐妹都接受了氟桂利嗪治疗并对其产生了反应，发作频率减少了 70% 以上。先证者记录的氟桂利嗪血清谷浓度为 28.9 ng/ml，其兄弟为 6.6 ng/ml。
We report the familial occurrence and apparent autosomal dominant inheritance of alternating hemiplegia of childhood. The proband, a 9-year-old boy, presented with developmental retardation, rare tonic-clonic seizures, and frequent episodes of flaccid alternating hemiplegia that had been presumed to represent postictal paralysis. The hemiplegia spells, which started in his first year, did not respond to multiple antiepileptics. Between attacks, there was choreoathetosis and dystonic posturing. Father, brother. paternal uncle, and paternal grandmother had similar histories of alternating hemiplegia. Investigations included negative CT, metabolic, and coagulation studies. EEG and SPECT Tc-99m exametazime scanning failed to reveal any significant slowing or any major changes in cortical perfusion during hemiplegia as compared with nonhemiplegic periods. The karyotype revealed a balanced reciprocal translocation, 46,XY,t(3;9)(p26;q34) in the patient, in all the affected living relatives, and in one apparently unaffected sibling. The asymptomatic mother had a normal karyotype. Analysis of DNA markers was consistent with the karyotype results. Both affected siblings were treated with and responded to flunarizine therapy, with a greater than 70% decrease in attack frequency. Documented flunarizine trough serum concentrations were 28.9 ng/ml in the proband and 6.6 ng/ml in his brother.