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06 July 2011, Volume 26 Issue 07 Previous Issue    Next Issue

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Relationship between MDR1 gene polymorphism and blood concentration of antiepileptic drug in epilepsy. JIN Rui-feng*，GE Li-juan，WANG Ji-wen，TIAN Guang-yan，SUN Ruo-peng. 2011, 26(07): 515.  Abstract ( )   To investigate the relationship between multidrug resistance gene 1（MDR1）C3435T and T1236T polymorphism and whole blood concentration of antiepileptic drug in epilepsy. Methods　Blood samples were collected from 205 epilepsy patients，110 and 95 epilepsy patients respectively had been treated with valproic acid（VPA ）and carbamazepine（CBZ） for more than 2 months to 8 years. Genotypes of the C3435T and C1236T polymorphism were determined by polymerase chain reaction（PCR）followed by restriction fragment length polymorphism （RFLP）.VPA and CBZ concentrations were measured using a fluorescence polarization immunoassay。The patients were divided into 3 subgroups for every position：GG， GT， and TT in C3435T；CC，CT，and TT in C1236T. Results　Of the patients who received VPA or CBZ， genotype frequency was CT > CC > TT in both C3435T and C1236T. The serum valproic acid concentrations of the patients with CT，CC and CT genotypes in C3435T were 4.17±1.99， 5.16±2.62 and 4.78±1.72 （mg/L）， respectively， and there was no significant difference between the C3435T genotypes. The serum CBZ concentrations of the patients with CT，CC and CT genotypes in C3435T were 0.72±0.44，0.69±0.29 and 0.57±0.43 （mg/L），respectively， and there was no significant difference between the C3435T genotypes.The serum valproic acid concentrations of the patients with CT， CC and CT genotypes in C1236T were 3.73±1.48，5.35±2.61，5.71±2.40（mg/L），respectively.The serum CBZ concentrations of the patients with CT， CC and CT genotypes in C3435T were 0.98±0.44，0.78±0.13 and 0.71±0.33（mg/L），respectively，and there was no significant difference between the C1236T genotypes and the serum valproic acid（or CBZ） concentrations of the patients with CT， CC and CT genotypes in C1236T. Conclusion The MDR1 gene polymorphism is not correlated with the whole blood concentration of VPA or CBZ.

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Clinical and EEG characteristics of Angelman syndrome.　 YANG Zhi-xian，LIU Xiao-yan，QIN Jiong，PAN Hong，ZHANG Yue-hua，XIONG Hui. 2011, 26(07): 519.  Abstract ( )   To investigate the clinical and electrophysiological characteristics of Angelman syndrome （AS） and improve early and accurate clinical diagnosis. Methods　The clinical and EEG characteristics in 8 patients with AS confirmed by genetic diagnosis were analyzed. The treatment and prognosis were also followed up. Results　Of the 8 patients，6 were male and 2 were female. All patients had comprehensive，particularly language developmental delay，movement disorder， happy demeanor with laugh incompatible with the environment，and dysmorphic facial features existed in some patients. Seizures occurred in all patients with onset age from 6m to 2y.Seizure types included febrile seizure，atypical absence seizure，partial seizure，myoclonic seizure and secondary generalized seizures. Epileptic status occurred in 3 patients. EEG monitoring age was from 1y6m to 7y.The characteristic EEG pattern manifested as rhythmic delta and theta in anterior，posterior and generalized areas mixing spikes，and spike and waves which mainly distributed in posterior area in 5 patients. The slow waves often had migratory between the different sites. All patients were diagnosed by genetic examination，7 of whom were with a maternal deletion involving chromosome 15q11-13.Imaging found white matter abnormalities in 2 patients. The age at follow-up ranged from 2y5m to 9y3m with interval from 1y to 8y. Valproic acid only or combined with other antiepileptic drugs was used to treat seizures. Seizure free was observed in 3 cases，seizure obvious reduction in 4 cases and seizure no improvement in 1 case. Five patients could walk independently，but unsteadily at the last follow-up. Only one patient was able to speak a few meaningful words，while the other 7 patients showed no language development. Conclusion　There is characteristic clinical and EEG abnormality in AS.EEG monitoring is a very sensitive screening method for AS，which can not only determine epileptic seizure，but also prompt AS before clinical symptoms and genetic diagnosis. The incidence of epilepsy in AS is very high，but the severity of epilepsy is not necessarily related to the degree of developmental disturbance.

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Comparison of the pathological of brain myelination between infants with primary west syndrome and those with phenylketonuria combined with West syndrome.　　 WANG Zhi-Xin，ZHOU Zhong-Shu. 2011, 26(07): 524.  Abstract ( )   To observe delayed brain myelination of children in primary West syndrome and West syndrome combined with phenylketonuria with MRI. Methods　The 19 patients were divided into two groups，8 cases of primary west syndrome as primary group，11 cases of phenylketonuria combined with west syndrome as phenylketonuria group. The myelination in ten sections was evaluated by using MRI T1and T2WI with Staudt’s staging system which was originally developed to evaluate brain myelination in healthy children at different age stages. Results　The incidence of 10 sections of delayed myelination in all 19 West syndrome was cases 86%，primary group 75%， delayed in all regions；in phenylketonuria group it was 100%， mainly in cerebral lobes and corpus callosum； the incidence of delayed myelination more than 5 sections in one case showed statistically significant change （P < 0.05） between primary group and phenylketonuria group. Conclusion　The patients with West syndrom had a higher incidence of delayed brain myelination；the incidence in phenylketonuria group is higher than that in primary group，maybe corresponding to high serum level of phenylalanine disturbing myelination process. Keywords：West syndrome；phenylketonuria；myelination；magnetic resonance imaging（MRI）

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Clinical analysis and follow-up studies in 20 cases of herpes simplex virus encephalitis in children.　　 ZHOU Yuan-feng，ZHOU Shui-zhen，CAO Ling-feng，ZHU Zhen. 2011, 26(07): 527.  Abstract ( )   To analyze the clinical feature and prognosis of HSE，and to discuss the importance of a careful clinical check-up in early dianosis of HSE in children. Methods　Twenty patients with Herpes simplex virus encephalitis（HSE） were traced in this study. Information was retrieved from medical records on age，sex，neurological signs and symptoms at admission，electroencephalogram（EEG），cerebral CT scan，and/or MRI results. Biological data were reviewed，including CSF leukocyte count，protein and glucose level，HSV DNA PCR，and HSV serological test results.12 of 22 patients were followed up from 6 months to 5 years for the assessment of the morbidity. Results　All the 20 patients（100%） had fever，and 16（80%） had the altered state of consciousness. Convulsion was seen in 19（95%） cases，psycho- behavior disorder in 4（20%） ，and hemiparesis in 7（35%）.Cerebrospinal fluid test was abnormal in 14 cases（70%）and red blood cells increased in 9 case（64%）.The glucose in the cerebrospinal fluid was lower than 2.2mmol/L in 3 cases（21%）.The cerebral CT scan and/ or MRI was done for 19 patients. Brain lesions were observed in 19（95%） patients . Intracranial hemorrhage was seen in 11 cases（58%），thalamic hemorrhage in 5 cases（45%），midbrain infarction in 1 case（5%）.In the followed-up patients，1 of 12 showed good recovery，mental and motor development retardment with self-care inability in 5 case，mental development retardation in 3，dyscinesia in 3，and 7 cases were combined with epilepsy. Conclusion　Generally，HSE is with acute onset and is a critical illness.The range of clinical features of HSE are wide and may be atypical in children.A careful clinical and neurological follow-up is required for early diagnosis and prognosis improvement.

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Study of family intervention on improving anxiety and depression in children with attention deficit hyperactivity disorder and their parents. CHA Cai-hui，LI Zhi-bin，OU Wan-xing，WANG Ling-hua，YANG Si-da，MAI Jian-ning. 2011, 26(07): 531.  Abstract ( )   To investigate whether family intervention could improve anxiety and depression in children with attention deficit hyperactivity disorder （ADHD） and their parents. Methods　All patients with ADHD from the Mental Health Department of a maternal and children’s health center in Guangzhou，China were recruited between 2009 and 2010. When treated with methylphenidate，some of them accepted family intervention. The children were given SCARED and DSRSC，and their parents were SAS and SDS to assess anxiety and depression. Results　The mean total score of the SCARED assessing anxiety of children with ADHD was （13.28±0.43） in cases treated with family intervention after 4 weeks and was significantly lower than that before family intervention （P < 0.01）. At 12 weeks the score of the SCARED was （9.31±0.32），which was significantly lower than that before family intervention，after 1 and 4 weeks，and that in the controls（P < 0.01）. Mean scores of DSRSC assessing depression of children with ADHD were （9.42±0.26），which was  significantly lower than that before family intervention. After accepting family intervention for 12 weeks，the score of the DSRSC was significantly lower than that before family intervention，after 1 and 4 weeks，and that in the controls（P < 0.01）. The total score of the SAS assessing anxiety of their parents was （48.16±6.31） after 4 weeks，which was significantly lower than that before family intervention （P < 0.01）. After accepting family intervention for 12 weeks，the score of the SAS was （41.96±5.85），which was significantly lower than that before family intervention，after 1 and 4 weeks，and that in the controls（P < 0.01）. The score of SDS assessing depression of their parents was （50.68±6.43） at 4 weeks，which was significantly lower than that before family intervention （P < 0.01）. After accepting family intervention for 12 weeks，the score of the SDS was （40.37±2.42） which was significantly lower than that before family intervention，after 1 and 4 weeks，and that in the controls （P < 0.01）. Conclusion　Family intervention based on medication is an effective intervention for children with ADHD to improve anxiety and depression in them and their parents.

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THE video-EEG characteristics of 27 children with frontal lobe epilepsy. YU Tao，WANG Hua. 2011, 26(07): 535.  Abstract ( )   To explore clinical features，ictal and interictal EEG characteristics of frontal lobe epilepsy. Methods　A total of 27 patients，who were diagnosed with frontal lobe epilepsy in the Department of Pediatrics of Shengjing Hospital of China Medical University，were studied with the long-term video-EEG（VEEG）monitoring. The performance of 55 times clinical data and EEG findings were double-blind  analyzed by seasoned doctor and technician. Results　In this 27 patients，6 cases（22.2%）  only attacked when awake，11 cases（50.0%）only attacked when sleep，the other 5 cases（27.8%） were no Specificity. The performance in 55 times of seizures was complex，motor symptoms prominent；the main form was somato-automatism（in 23 times，41.8%），followed by postural-tonic seizures（in 15 times，27.3%），often accompanied by varying degrees of disturbance of consciousness and voice（in 16 times，29.1%）；Oral automatisms（in 14 times，25.5%），aura（in 10 times，18.2%） and partial-clonic seizures（in 8 times，14.5%），version seizures（in 6 times，10.9%），subclinical  discharges（in 5 times，9.1%），postictal mental confusion（in 4 times，7.3%），and absence seizures（in 3 times，5.5%），also have emerged. Interictal EEG could be located in the frontal lobe in 19 patients （70.4%）；in 51 times（92.8%）clinical seizures were captured by video，the abnormal rhythm in frontal region appeared in clinical attacks or before clinical attacks. Conclusion　Frontal lobe epilepsy is a syndrome with extremely complex and diverse epileptic clinical manifestations.The transient changes in EEG before clinical onset are of more important localizing value for frontal lobe epilepsy.