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。     

三例儿童交替性偏瘫的回顾性分析

目的探讨儿童交替性偏瘫病因、临床特点、治疗效果。方法回顾性分析3例儿童交替性偏瘫患者的病因、临床表现及疗效。结果本组3例患者起病年龄均小于18个月,反复发作的交替性偏瘫；进行性的智能障碍,其中1例伴有短暂眼球震颤及眼球活动障碍,1例伴有张力障碍性姿势异常；睡眠可缓解无力及锥体外系症状,应用氟桂嗪治疗后,2例患者发作频率及持续时间降低,1例无效。结论本病病因不明,多为散发,临床表现为18月内起病的发作性交替性偏瘫,辅助检查无特征性改变,氟桂利嗪治疗部分有效。     

Abnormal cerebral hemodynamics during attacks of alternating hemiplegia

Frequent episodes of bilateral weakness and apathy, followed later by hemiplegia of alternating sides were observed in a now 32-month-old girl. Transcranial Doppler ultrasonography showed reduced flow velocities in the middle cerebral artery of the affected side during a hemiplegic attack and increased flow velocities at different sites of the basilar artery during a bilateral episode. These abnormal cerebral hemodynamics appear to indicate that alternating hemiplegia and some forms of migraine have a similar pathophysiology.     

Benign nocturnal alternating hemiplegia of childhood: A new case with unusual findings

It has been described a neuro developmental disorder labelled “Benign nocturnal alternating hemiplegia of childhood” (BNAHC) characterized by recurrent attacks of nocturnal hemiplegia without progression to neurological or intellectual impairment. We report a female patient who at 11 months revealed a motionless left arm, unusual crying without impairment of consciousness and obvious precipitating factors. The attacks occur during sleep in the early morning with lack of ictal and interictal electroencephalographic abnormalities, progressive neurological deficit, and cognitive impairment. Unlike previous reports of BNAHC our patient come from a family with a history of both migraine, hemiplegic migraine, and sleep disorders. Our study remarks on the typical features described in previous studies and stresses the uncommon aspects that could help to identify the disorder which is likely to have been underestimated. Despite some clinical similarities between BNAHC and familiar hemiplegic migraine and alternating hemiplegia of childhood, the genetic analyses of our patient did not reveal genetic mutations found in both disorders.     

Benign nocturnal alternating hemiplegia of childhood: Two cases with positive evolution

Benign nocturnal alternating hemiplegia (BNAH) of childhood is distinct from the classic form of malignant alternating hemiplegia of childhood [1]. It is characterized by hemiplegic attacks occurring exclusively during sleep [2]. It can be misdiagnosed as migraine, nocturnal frontal lobe epilepsy, benign rolandic epilepsy, Panayiotopoulos syndrome, or sleep-related movement disorder [1], [2], [3] and [4]. Only nine patients have been described to date, with typically, a normal development [1], [5], [6] and [7]. In order to insist about the benignity of the affection, we report two cases: a new three-year-old boy suffering from BNAH and a patient already published to show positive evolution at fourteen years of age. BNAH is a rare disorder but may be underdiagnosed. Making an early diagnosis can help to describe to the parents the good prognosis without treatment.     

Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene

Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor genotypes for AHC, were recently described as having a mild phenotype, although their long-term outcomes are still unclear due to the lack of long-term follow up. Here, we demonstrate the full clinical course of a 43-year-old female AHC patient with p.G755S mutation. Although her motor dysfunction had been relatively mild into her 30?s, she showed a subsequent severe aggravation of symptoms that left her bedridden, concomitant with a recent recurrence of seizure status. The seizures were refractory to anti-epileptic drugs, but administration of flunarizine improved seizures and the paralysis.Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient’s younger years.     

Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood

Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally law calculared cytosolic phosphorylation potential. Tow of the 4 patients had abnormally law resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphare conecntration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.     

Skeletal muscle mitochondrial dysfunction in alternating hemiplegia of childhood

Alternating hemiplegia of childhood is an uncommon disease characterized by repeated, transient attacks of hemiplegia. Its pathophysiology is uncertain, but attention recently has focused on possible mitochondrial abnormalities. Using ³¹P magnetic resonance spectroscopy, we studied gastrocnemius muscle in 5 patients with alternating hemiplegia, aged 8 to 30 (mean, 18) years, at rest and during incremental aerobic exercise and recovery. There were no significant differences in resting muscle between patients and a control group aged 7 to 42 (mean, 19) years. Exercise performance was grossly impaired in the patients, the mean duration being 30% of normal. The total change in pH during exercise was somewhat less than in control subjects, while the changes in phosphocreatine concentration and intracellular ADP were similar. Thus the average overall rate of fall of phosphocreatine concentration during exercise was three-fold greater than in control subjects. However, the initial rate of ATP turNovemberer at the start of exercise (a measure of muscle mass and efficiency) was not abnormal. During recovery, both the initial rate of phosphocreatine resynthesis and the calculated mitochondrial capacity were reduced by about 35%. This mitochondrial defect probably explains most of the abnormalities seen during exercise.     

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     

123I-iodoamphetamine SPECT brain imaging in alternating hemiplegia

Alternating hemiplegia of childhood is an unusual disorder characterized by early onset (occurring before 18 months of age); repeated attacks of hemiplegia involving both sides of the body; other paroxysmal phenomena, such as tonic stiffening, dystonic posturing, choreoathetoid movements, ocular motor abnormalities, and autonomic disturbances, in association with bouts of hemiplegia or occurring independently; and evidence of mental or neurologic deficits. A girl was examined because of left hemiplegia at the age of 16 months. The patient had begun exhibiting episodes of alternating hemiplegia at approximately 4 months of age. They consisted of tonic stiffening and dystonia of the right or left extremities, lasting from 30 min to several hours and followed by residual hemiparesis. They were invariably accompanied by ocular motor abnormalities. Magnetic resonance imaging, computed tomography, and angiography all were normal. Single proton emission computed tomography brain images during an acute episode of right hemiplegia demonstrated hypoperfusion of the left cerebral hemisphere. Following improvement of the hemiplegia, the patient was re-evaluated. The uptake of the radiotracer in the left hemisphere was increased. The scan did not demonstrate significant asymmetry in cerebral perfusion.     

A patient with alternating hemiplegia in childhood

Alternating hemiplegia in childhood (Verret, 1971) is a disorder presenting with frequent episodes of alternating hemiplegia from early infancy. We report a patient with this disorder, along with a pathophysiological study and a discussion about the available therapies for this disorder. The patient, an 11-year-old boy, visited our hospital with episodes of alternating hemiplegia from early infancy. His family history showed that many members suffered from migraine. He was born with asphyxia. Mental and motor developmental delays were seen from early infancy. The hemiplegic episodes with ipsilateral facial palsy had occurred frequently from early infancy. The episodes were frequently induced by emotional stress. The duration of hemiplegia varied from 10 minutes to 3 days. From the age of 11 years, he had begun to have migrainous attacks with or without hemiplegic episodes. Neurological examination revealed slight muscle hypotonia, choreoathetosis and dystonic movements induced by locomotion, positive Myerson sign, increased deep tendon reflexes and Babinski reflex. CAG, VAG and CAT revealed normal findings. EEG revealed diffuse generalized slowing during hemiplegic episodes. Measurement of regional cerebral blood flow (CBF) by 133Xe inhalation method revealed a slight decrease of bilateral CBF during a quadriplegic episode. Positron emission tomography using C15O2 revealed a slight decrease of CBF at the insula, putamen and claustrum of the left side during a right sided episode. Increased excretion of urinary 5-HIAA was seen during one episode. From our clinical and laboratory findings, we think this disorder may be a special type of migraine. Therapeutic trials of diazepam and flunarizine were both effective, but the initial effectiveness was decreased after 5 months.     

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

Patients with a mutation at Arg756 in ATP1A3 have been known to exhibit a distinct phenotype, characterized by prolonged weakness and encephalopathy, triggered by febrile illness. With only eight reports published to date, more evidence is required to correlate clinical features with a mutation at Arg756. Here we report an additional case with an Arg756Cys mutation in ATP1A3. A four-year-old boy showed mild developmental delay with recurrent paroxysmal episodes of weakness and encephalopathy from nine months of age. Motor deficits, which included bilateral hypotonia, ataxia, dysmetria, limb incoordination, dysarthria, choreoathetosis, and dystonia, were observed from one year and three months. Whole-exome sequencing detected a heterozygous de novo variant at c.2266C > T (p.Arg756Cys) in ATP1A3. The episodic course and clinical features of this case were consistent with previously reported cases with mutations at Arg756. Furthermore, his phenotype of marked ataxia was more similar to that of an Arg756Cys patient with relapsing encephalopathy and cerebellar ataxia syndrome, than to those with Arg756His and Arg756Leu mutations. This report therefore provides evidence of genotype-phenotype correlations in ATP1A3-related disorders as well as in patients with mutations at Arg756 in ATP1A3.     

Evolution of upper limb function in children with congenital hemiplegia

Hand function deficits in hemiplegic children are a major cause of disability, but there is a lack of appropriate instruments for evaluating the evolution of this deficit over time and for verifying the efficacy of its treatment. We evaluated changes in upper limb function in relation to age and the course of individual rehabilitation treatment in 20 children (13 males and 7 females) who were first seen within the first four years of life and subsequently followed until a mean age of 13 years and four months (range, 11–17 years) in accordance with a diagnostic/rehabilitation program initiated in our division in 1989. All of the children were treated by us; those whose paretic upper limb functioned well were not treated in any specific or directed manner. The protocol involved a qualitative evaluation of the spontaneous use of the paretic hand and a quantitative evaluation of grip. Analysis of the results revealed an age-related global improvement over time, occurring within the first five years of life and more pronounced in terms of grip than spontaneous use. This finding makes our protocol more specific than those currently used because it more reliably establishes the real capacity to use the paretic hand in different situations of everyday life. The most important changes concerned the children with more impaired functional capacity, whereas the children who presented with good functional skill retained this capacity over time, thus confirming the initial decision not to treat them. Received: 5 July 2001 / Accepted in revised form: 5 October 2001     

系统化康复治疗对脑卒中偏瘫患者功能恢复的影响

目的探讨系统化康复治疗对脑卒中偏瘫患者肢体运动功能和日常生活活动(ADL)能力的影响。方法 84例脑卒中患者随机分为康复组和对照组,分别于治疗前及治疗后60 d对两组患者采用简化Fugl-Meyer量表(FMA)和Barthel指数(BI)来评定患者运动功能及ADL能力。结果治疗前,两组患者的FMA评分和BI评分差异均无显著统计学意义(P>0.05);治疗后,两组患者的FMA评分和BI评分与治疗前比较,均有明显改善(P<0.05)。结论系统化康复治疗对脑卒中偏瘫患者的肢体运动功能和ADL能力的恢复具有显著促进作用。     

高压氧治疗脑卒中偏瘫患者疗效及护理体会

目的探讨高压氧对脑卒中偏瘫患者治疗的护理方法及效果。方法选择2015-01—2016-01在我院选择60例脑卒中偏瘫患者为研究对象,将患者随机分为常规组(n=30)和干预组(n=30),常规组给予常规治疗及护理,干预组给予高压氧治疗及护理干预,对比2组患者的治疗及护理效果。结果干预组患者治疗总有效率90.0%明显高于常规组66.7%,差异有统计学意义(P0.05)。观察组治疗和护理后Fugl-Meyer评分(59.8±4.7)分与对照组(47.6±4.6)分相比明显较高,Barthel指数(58.6±5.1)与对照组(43.8±5.7)相比明显较高,差异有统计学意义(P0.05)。结论高压氧治疗及护理能有效提升患者治疗效果,改善患者运动功能及生活能力,可在脑卒中偏瘫患者中推广运用。     

An 11-year follow-up study of neonatal-onset, bath-induced alternating hemiplegia of childhood in twins

The authors previously reported on the initial manifestations in a set of female twins, who presented soon after birth with bath-induced paroxysmal events each time they were immersed in a warm water bath. These episodes progressively ceased by the age of 36 months, replaced by paroxysmal episodes of alternating hemiplegia unrelated to water immersion. By age 4 years, the twins developed the classic features of alternating hemiplegia of childhood. Clinical outcomes at the age of 11 years are now reported. Standard and video-electroencephalograms showed a large, slow background activity followed by lower amplitude waves without focal abnormalities or other abnormal findings. This represents the first report on (a) alternating hemiplegia of childhood started with bath-induced paroxysmal episodes; (b) this condition in monozygotic twins; and (c) an 11-year follow-up study in which the twins continue to experience episodes of alternating hemiplegia in the setting of baseline cognitive impairment without epileptic episodes.     

Acute hemiplegia with lacunar infarct after varicella infection in childhood

We report 4 cases of acute hemiplegia and a small low-density lesion on computerized tomography (CT) after varicella infection. In 3 of them, CT in the acute hemiplegic stage, and later, reveals the development of lacunar infarct around the internal capsule. Focal low density may be caused by occlusive vascular lesions of the penetrating arteries. Varicella infection may play an important role as one of the causes of acute hemiplegia in childhood producing lacunar infarct, as well as delayed hemiplegia, reported previously in herpes zoster ophthalmicus.