Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Infarto isquémico mesencefálico: síndrome de Weber / Ischemic mesencephalic infarction: Weber's syndrome

La enfermedad cerebrovascular constituye la tercera causa de muerte en la población adulta, la primera causa de discapacidad a escala mundial y la segunda causa de demencia, problema de salud actual relacionado con otras enfermedades crónicas no transmisibles. Se presenta un caso de un infarto isquémico mesencefálico aterotrombótico en una anciana de 77 años con la expresión clínica de un síndrome de Weber. El síndrome de Weber es uno de los síndromes cruzados o alternos de la clínica y la neurología por lesión peduncular. Es poco frecuente y a la vez, el más frecuente de los alternos de tronco encefálico(AU)

Cerebrovascular disease is the third leading cause of death in the adult population, the leading cause of disability worldwide and the second cause of dementia. It is a current health problem related to other chronic noncommunicable diseases. We present a case of atherothrombotic mesencephalic ischemic infarction in a 77-year-old woman with the clinical expression of Weber syndrome, which is a crossed or alternating clinical syndrome and neurology by pedicle injury. It is rare and, at the same time, the most frequent alternating brainstem(AU)

Clinical efficacy of Flunarizine in treating alternating hemiplegia in children and the influencing factors / 中华实用儿科临床杂志

Objective To investigate the effective rate of Flunarizine in treating alternating hemiplegia during childhood (AHC) kids,and to analyze the related factors influencing efficacy.Methods The clinical data and peripheral blood DNA of AHC patients at the Outpatient and Inpatient Ward of Department of Pediatrics,Peking University First Hospital from August 2005 to May 2016 were collected,and the A TP1A3 gene mutations were screened.Clinical efficacy of oral administration of Flunarizine for improving paroxysmal symptoms such as alternating hemiplegia in AHC patients was followed up.Results A total of 96 AHC patients were collected,and among them,75 cases received oral administration of flunarizine were followed up for 1-11 years.The age of last follow-up was 1-21 years old (the median age was 5 years old).Fifty of these 75 patients (66.7％) were improved,while 25 patients were not alleviated (33.3％).In 50 improved patients,43 patients (86.0％) reduced the frequency of hemiplegia attacks,28 patients (56.0％) reduced the duration,and 3 patients (6.0％) alleviated the severity.Univariate analysis between the effective group and ineffective group showed that differences in age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of ATP1A3 gene were not statistically significant(all P ＞0.05).The findings by multivariate analysis indicated that age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of ATP1A3 gene were not related to the efficacy of Flunarizine.Conclusion Flunarizine is effective for most AHC children,which can reduce the frequency of hemiplegia attacks,shorten the duration,and alleviate the severity of attacks.Age of onset,age of initial treatment,dose and carrying D801N,E815K or G947R mutation of gene A TP1A3 are not factors influencing efficacy.

Clinical manifestations and advances in hereditary research of alternating hemiplegia of childhood / 国际儿科学杂志

Alternating hemiplegia of childhood(AHC) is a hereditary disease characterized by hemiplegia spells,abnormal eye movements,dystonia and cognitive impairment.There are three phases of the disease.Each phase has its unique clinical symptoms:phase 1-abnormal eye movements and dystonia;phase 2-hemiplegia spells; phase 3-permanent cognitive impairment.The severity of cognitive impairment depends on the time of onset of hemiplegia spells:the earlier the onset is,the worse outcome will be.No effective treatment has been established.Thetreatments currently include:avoiding predisposing factors and taking drugs such as flunarizine to prevent hemiplegia attacks,in the inter-ictal stage;and sedation during hemiplegia attacks.According to the latest research,AHC is caused by the de novo mutation of gene ATP1A3.

Alternating Hemiplegia of Childhood in Korea / 대한소아신경학회지

PURPOSE: Alternating hemiplegia of childhood(AHC) is a rare neurologic syndrome of unknown pathophysiology. The typical clinical features are characterized by recurrent hemiplegic attacks shifting from one side to the other, beginning before 18 months, dystonia, strabismus, nystagmus, epilepsy, and immediate resolution of all symptoms during sleep. This study is to access clinical features and outcome of treatment of AHC in Korea. METHODS: We sent standardized questionnaires by e-mail to 118 council members of the Korean Society of Child Neurology. We received it through e-mail from 7 centers and analyzed clinical characteristics, treatment, and outcomes. RESULTS: We collected 11 AHC patients(male 6, female 5). The mean age was 6.13+/-5.23 years. The mean age of onset of hemiplegia was 9.80+/-6.67 months. The mean frequency of episode was 10.73+/-11.44 per month and mean duration was 3.10+/-2.50 days. The manifestations were hemiplegia in 100%, dystonia in 81.8%, abnormal eye movements in 81.8%, developmental delay in 81.8%, seizure in 72.7%, autonomic phenomena in 54.5%, ataxia 45.5%, and episodes of quadriparesis in 45.5%. The onset age of seizure was 3-84 months. Psychomotor retardation was more severe in patients with seizures than in those without seizures. Magnetic resonance imaging of brain and cerebral angiography were normal in all patients. Interictal SPECT shows hypoperfusion in the frontal in 2 of 5 patients. Nine patients received flunarizine and antiepileptic drugs but two patients received antiepileptic drugs only. A favorable response was reported in 45.5%, which included excellent response to the combination therapy of flunarizine and high dose topiramate. CONCLUSIONS: Patients with seizures faired the poorer psychomotor retardation. The combination of flunarizine and high dose topiramate was very effective in AHC.

A Case of Alternating Hemiplegia of Childhood / 대한소아신경학회지

Alternating hemiplegia of childhood(AHC) is a rare but clinically distinct syndrome characterized by onset before 18 months of age, frequent attacks of alternating paralysis, nystagmus transient ocular palsies, other autonomic dysfunction, and the development of cognitive impairment and a choreoathetotic movement disorder. The case is a 13 month-old boy who has presented repeated episodes of alternating hemiplegia from the age of 6 months at a frequency of several times per month, which was lasting for two or three days. Ths diagnosis was based on clinical features. Frequently such hemiplegic attacks were accompanied by irratability. He had mental retardation, neurodevelopmental delay, and seizure attacks. EEG, brain MRI, brain MR angiography, and Tc-99m HMPAO-brain single photon emission computed tomography(SPECT) failed to reveal any significant abnormal finding during the hemiplegic attacks. We tried calcium-entry block and flunarizine to relieve the hemiplegic attacks, but the frequency and severity of the hemiplegic attacks were not decreased by flunarizine therapy.