儿童交替性偏瘫六例分析

目的探讨儿童交替性偏瘫（ＡＨＣ）的临床特点及治疗方法。方法对６例ＡＨＣ患儿的临床资料进行分析。结果６例患儿的临床特征为出生后１８个月起内病，频繁发作，持续数分钟至数小时；短暂的眼球震颤，肌张力异常，舞蹈徐动样动作，植物神经机能紊乱和认知机能减退；睡眠可缓解无力及锥体外系症状。应用氟桂嗪治疗后，１例患儿发作完全停止，其余５例患儿均显示发作频率和持续时间降低。结论本病的主要特征为１８个月内起病的发作性交替性偏瘫，伴锥体外系症状及智力障碍，氟桂嗪治疗本病有效     

儿童交替性偏瘫

儿童交替性偏瘫(AHC)是一种罕见的综合征。其特征是频繁发作一过性偏瘫,可累及身体任何一侧或两侧。症状首发于18个月内。常伴有发作性眼球运动障碍、植物神经症状、肌张力障碍姿式(dystonic posturing)及舞蹈指痉病(choreathetosis,其典型的发作过程是以痛性尖叫和躁动为先兆,继无出现眼球运动异常及肌张力障碍,之后出现一侧肢体软瘫。一述发作常因睡眠而戏剧性缓解。为了解AHC的临床表现、病程、预后及对氟桂嗪治疗的反应,作者对10例AHC患者进行观察和治疗。 10例(男3例,女7例),平均年龄11岁(3～     

儿童交替性偏瘫一例

目的了解儿童交替性偏瘫(AHC)的诊断及治疗方法的合理选择。方法介绍我院收治的1例难治的儿童交替性偏瘫患儿的临床特点,检索国内外10年内的相关文献。结果本病的临床特点为反复发作性的偏瘫,睡眠后缓解,可有其他发作性症状,如发作性肌张力障碍、眼球运动异常和认知障碍等。氟桂利嗪是最常用的药物,托吡酯片、阿立哌唑也可用于治疗本病。结论本病是一种罕见的神经系统发作性疾病,临床表现多样,容易误诊,目前没有标准的治疗方法。     

儿童交替性偏瘫(附3例报告)

目的探讨儿童交替性偏瘫（AHC）的临床特点和治疗方法。方法对3例AHC患儿的临床资料进行分析。结果3例患儿的临床特征为生后18个月内起病．反复发作、时间不等的交替性偏瘫，伴有眼位异常，肌张力异常，舞蹈样徐动动作，植物神经机能紊乱和智力障碍；睡眠可缓解。结论本病的主要特征为生后18个月内起病的发作性交替性偏瘫，伴有锥体外系症状及智能障碍，Flunarizine治疗有效。     

托吡酯治疗儿童交替性偏瘫的疗效观察

目的 观察托吡酯(TPM)治疗儿童交替性偏瘫(AHC)的临床疗效.方法 对氟桂利嗪等药物治疗无效的6例AHC患儿应用TPM治疗,观察TPM治疗后偏瘫及伴随的癫(癎)和偏头痛的发作频率、持续时间及严重程度的变化.结果 TPM治疗6个月后患儿偏瘫发作频率降低76.4%、持续时间减少80.2%,严重程度亦降低.癫(癎)发作频率和持续时间分别降低84.5%和75.5%,偏头痛发作频率和持续时间分别降低77.5%和76.4%.结论 TPM对氟桂利嗪等治疗无效AHC患儿具有较好的疗效.     

氟桂利嗪剂量递增法治疗难治性癫痫部分性发作的疗效观察

目的：研究氟桂利嗪作为添加剂，采用剂量递增法治疗难治性癫痫部分性发作的疗效和安全性。方法：对1997年1月至2000年1月收治的43例难治性部分性发作患者（男25例，女18例，年龄8－56岁），进行氟桂利嗪添加治疗的开放性自身对照研究，原服用的抗癫痫药种类和剂量不变，氟桂利嗪剂量递增给药方法为：8－12岁儿童，第1周口服5mg/d，以后每周增加5mg/d；成人第1周口服10mg/d，以后每周增加10mg/d；至第4周时，儿童以20mg/d、成人以40mg/d维持量给药，分2次口服，连续观察半年。结果2年失访，3例因不能耐受的副反应，在剂量递增期间退观察。38例完成氟桂利嗪剂量递增添加治疗。总有效率为63％，其中单纯部分性发作（SPS）有效率75％，38例完成氟桂利嗪剂量递增添加治疗。总有效率为63％，其中单纯部分性发作（SPS）有效率为75％，复杂部分性发作（CPS）为62％，继发性全身性发作（SGS）为56％。同添加治疗前比较，总的发作频率减少69％，其中SPS为73％，GPS为66％，SGS为57％。脑电图呈中度或重度异常的患者比例，由76％下降到47％，治疗前后的心电图及肝、肾、血、尿等化检验检查均无明显变化。16例患者出现轻度副反应，但未影响治疗。结论：氟桂利嗪作为添加剂，用剂量递增法治疗难治性癫痫部分性发作，疗效确切，安全性较高。     

烟雾病32例临床分析

临床资料一、本组32例中男14例，女18例，4～13岁4例，22～36岁25例，47～54岁3例。二、临床表现：本组12例以TLA起病，其中3例为反复发作的一侧肢体无力，1例为发作性失语，1例为发作性晕厥，3例先为发作性一例肢体麻木后无力，并逐渐进展为持久的偏瘫，伴有运动性失语；3例为急性不完全们知肌力为’～N级，1例并有外展神经麻痹；2例为起病较急的交替性偏瘫、假性球麻痹，其中互例并双眼视力下降；5例为发作性头痛，其中3例1月～30年后出现蛛网膜下腔出血；7例表现为剧烈头痛伴呕吐、不同程度的意识障碍，1例并癫病发作，经脑CT扫描证实…     

10例睡眠性头痛临床分析

目的分析睡眠性头痛的临床特点,提高对睡眠性头痛的认识和改善治疗效果。方法分析2006年7月至2010年10月诊治的10例睡眠性头痛的临床表现及治疗结果,并结合文献进行总结。结果10例病例中男4例,女6例,发病年龄从24至61岁,全部病例中6例使用了碳酸锂口服治疗,5例头痛发作完全停止,1例无效而改用氟桂利嗪口服治疗,发作停止;3例则使用了洛美利嗪治疗,头痛发作停止;2例(包括上述提到的1例)使用氟桂利嗪治疗发作停止。结论应提高对睡眠性头痛的认识,首选碳酸锂治疗,如果碳酸锂无效或因药物副作用或其它原因不能使用碳酸锂,则可使用洛美利嗪或氟桂利嗪亦有效。     

儿童交替性偏瘫的临床特征和脑血流灌注改变

目的探讨儿童交替性偏瘫的临床特点及脑血流改变。方法对近23年收治的11例患儿的临床资料进行分析,并对6例患儿应用单光子发射计算机断层扫描进行脑血流灌注观察,其中4例在发作间期,1例在发作期,1例在发作间期和发作期均进行测定,以兴趣区法作半定量分析。结果11例患儿的临床特征一般为18个月内起病,表现为频繁发作的交替性偏瘫、短暂的眼球震颤、肌张力异常、舞蹈徐动样动作,常伴自主神经功能紊乱和认知功能减退;睡眠可缓解上述症状。2次发作期单光子发射计算机断层扫描均示偏瘫对侧脑血流减少,5次发作间期均正常。结论本病的主要临床特征为一般18个月内起病的反复发作的交替性偏瘫,伴锥体外系症状及智能障碍;发作期偏瘫对侧脑血流减少。     

氟桂利嗪和托吡酯单用及合用预防偏头痛发作的临床研究

目的观察氟桂利嗪、托吡酯及氟桂利嗪合用托吡酯对偏头痛发作的预防作用。方法将101例偏头痛患者随机分为氟桂利嗪合用托吡酯组(34例,A组)、氟桂利嗪组(34例,B组)及托吡酯组(33例,C组),疗程2个月,观察上述3组治疗前后头痛发作程度、头痛发作频率及头痛持续时间的变化。结果A组、B组治疗前后上述3项指标均有改善,评分差值均有统计学意义,P< 0.05;而C组治疗前后仅头痛发作的程度、频率有改善,评分差值有统计学意义,P<0.05;3组间治疗前后比较;上述3项指标F值分别为24.23、12.44、9.86,P均小于0.05;其中A组3方面改善均最为明显;而B组及C组之间没有明显差异。结论氟桂利嗪、氟桂利嗪合用托吡酯对偏头痛发作的程度、频率及持续时间均有较好的预防作用,而托吡酯对偏头痛持续时间没有减少的作用;氟桂利嗪合用托吡酯较单独应用其中的一种有更好的预防偏头痛的效果。     

Topiramate: a new agent for patients with alternating hemiplegia of childhood

Alternating hemiplegia of childhood is a rare syndrome characterized by the onset, before 18 months of age, of frequent attacks of alternating paralysis. Here we report the efficacy of topiramate in four patients with alternating hemiplegia of childhood (AHC) that did not respond to flunarizine, as well as in two newly diagnosed patients. Following treatment with topiramate, the frequency and duration of hemiplegic attacks significantly improved in all patients. Additional symptoms such as seizures, migraine, involuntary movements, autonomic symptoms, and impaired mental development also improved. Topiramate is worth trying when treating patients with AHC as a first trial, or a substitute for flunarizine once the latter agent loses effect.     

Alternating hemiplegia of childhood: New diagnostic options

A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration tend to decrease with time. Motor and intellectual development is affected, deficits may also develop later. Epileptic seizures occur in some patients. Neuroimaging of the brain usually reveals no abnormalities. The variability of individual clinical presentations and evolution of symptoms have made diagnosis difficult. Therefore the problems of misdiagnosis could account for the low prevalence of this syndrome. This paper hopes to present actual data on AHC, especially of the results of genetic research and new diagnostic tools.     

Alternating hemiplegia of childhood: no mutations in the glutamate transporter EAAT1

Alternating hemiplegia of childhood (AHC) is a severe brain disorder, mainly characterised by episodes of hemiplegia, progressive mental retardation, and other severe paroxysmal and permanent neurological symptoms. Clinically and genetically, there is some overlap with sporadic (SHM) and familial (FHM) hemiplegic migraine, a severe monogenic subtype of migraine. Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC. Recently, a missense mutation was found in the SLC1A3 gene that encodes the glutamate transporter EAAT1, in a patient with alternating hemiplegia, episodic ataxia, seizures, and headache. Because of the remarkable clinical similarities and the potential role of glutamate in AHC, we analysed six sporadic patients with AHC for mutations in the SLC1A3 gene. No mutations were found. The SLC1A3 EAAT1 glutamate transporter gene does not seem to be involved in the pathogenesis of AHC.     

Treatment of alternating hemiplegia of childhood with aripiprazole

We report the pharmacological treatment of a case of alternating hemiplegia of childhood (AHC) in a 14-year-old female with an established diagnosis. Although the patient's symptoms are consistent with those of the condition, she did not respond to treatment with haloperidol, flunarizine, or propranolol. Treatment with aripiprazole resulted in a reduction in the frequency, duration, and severity of episodes of alternating hemiplegia, along with other therapeutic benefits. After treatment with aripiprazole was started, the patient was inadvertently given an inactive drug, resulting in a worsening of her hemiplegic episodes, which improved again on rechallenge. A comparison of the pharmacological actions of successful and unsuccessful treatments for AHC is made. Modulation of both dopamine and histamine systems together appears to be important in the treatment of AHC and further investigation of such pharmacotherapies is suggested.     

Absence of mutation in the SLC2A1 gene in a cohort of patients with alternating hemiplegia of childhood (AHC)

Alternating hemiplegia of childhood (AHC) is a rare neuropediatric disorder classically characterized by episodes of hemiplegia developing in the first months of life, various non-epileptic paroxysmal events and global neurological impairment. If the etiology is unresolved, the disorder is highly suspected to be monogenic with DE NOVO autosomal dominant mutations. A missense mutation in the SLC2A1 gene encoding the facilitative glucose transporter-1 (GLUT1) was recently described in a child fulfilling the existing criteria for the diagnosis of AHC, with the exception of age at onset, thus suggesting a clinical overlap between AHC and GLUT1 deficiency syndrome due to SLC2A1 mutations. We have studied a cohort of 23 patients to investigate whether patients with classical AHC harbor SLC2A1 mutations. Automated Sanger sequencing and MLPA analyses failed to detect any SLC2A1 mutations in the 23 patients analyzed, thus excluding mutations of this gene as a frequent cause of classical AHC.     

Absence of small-vessel abnormalities in alternating hemiplegia of childhood

Objective: To investigate whether Japanese patients with alternating hemiplegia of childhood (AHC) have the similar small-vessel abnormalities in skin reported in European patients with AHC. Methods: Electron microscopic observation of biopsied skin specimens were carried out in six Japanese patients with AHC. All patients (aged 5-17, all boys) had been diagnosed with AHC through their typical clinical courses and symptoms. Results: No abnormal findings in both endothelial cells and smooth muscle cells in skin small-vessels were obtained in the present study, either in the five flunarizine responders or in the one non-responder. Conclusions: From our observations, we hypothesized that there may be some subtypes of AHC. The diverse clinical courses in patients with AHC and the differing efficacy of flunarizine treatment could be explained because of the heterogeneity of AHC subtypes.     

Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

BackgroundAlternating hemiplegia of childhood (AHC) is a rare condition characterized by an early onset of hemiplegic episodes and other paroxysmal or permanent neurological dysfunctions. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. Regarding the differential diagnosis of AHC, glucose transporter 1 deficiency syndrome may be considered because these two disorders share some paroxystic and nonparoxystic features.Patient and resultsWe report a typical case of AHC harboring a de novo mutation in the ATP1A3 gene, together with a duplication and insertion in the SLC2A1 gene who exhibited marked clinical improvement following ketogenic diet.ConclusionBecause the contribution of the SLC2A1 mutation to the clinical phenotype cannot be definitely demonstrated, the remarkable clinical response after ketogenic diet led us to the hypothesis that ketogenic diet might be effective in AHC as it provides an alternative energy source for the brain.     

Benign nocturnal alternating hemiplegia of childhood: The first clinical report with paroxysmal events home‐video recordings

Benign familial nocturnal alternating hemiplegia of childhood (BNAHC) is a rare disorder characterized by recurrent attacks of hemiplegia, arising from sleep without progression to neurological or intellectual impairment. It is distinct from the malignant, relatively more common, alternating hemiplegia of childhood (AHC), complicated by developmental deterioration, cognitive impairment, and permanent neurological deficits such as choreoathetosis. The authors add a new case of BNAHC to the pertinent literature and report, for the first time, a video with the typical nocturnal hemiplegic attacks in order to improve knowledge about this disorder among child neurologists and pediatricians and increase the possibility of clarifying its pathogenesis and molecular basis. © 2008 Movement Disorder Society