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Objective:To investigate the clinical, skeletal muscle pathological, and genetic characteristics of fatal infantile hypertonic myofibrillar myopathy (FIHMM).Methods:The clinical manifestations, laboratory assessments data and gene sequencing results of 10 patients diagnosed with FIHMM in Shenzhen Children′s Hospital from February 2017 to April 2021 were retrospectively analyzed.Magnetic resonance imaging (MRI) of both musculoskeletal system and the brain, and electromyogram (EMG) were performed in 3 cases, while muscle biopsy was performed in 2 cases.Results:Among these 10 cases, 1 case was from Northeast China and 1 case from East China, while the rest 8 cases were from South China.Eight of the 10 patients were male, and the other 2 cases were female.They were all born normal and not related to each other.The age of onset varied from 2 to 12 months.The main clinical manifestations for all the patients were progressive rigidity of the rectus abdominis (8 cases), neck muscles (7 cases), rectus abdominis (2 cases) and intercostal muscles (1 case), resulting in respiratory failure.Mildly to moderately elevated serum creatine kinase level was detected (436-5 804 IU/L) (reference range: 24-229 IU/L). Complex repetitive discharges can be seen in the EMG, without any myotonic potential.Muscle fiber degeneration, necrosis, and vacuolar degeneration were noted in the histopathological examination of the vastus lateralis and rectus abdominis.An abnormal red granular deposit was observed in a portion of the field of the modified Gomory Trichrome staining.Immunohistochemistry showed substantial deposition of desmin.Under the electron microscopy, the sarcomere structure of the muscle fibers was seriously disordered, with the destruction of Z-bands and the presence of granular deposits.The whole-exome sequencing identified the same homozygous variation c. 3G>A, p.Met1? of CRYAB gene in all the patients, but heterozygous variation in their parents. Conclusions:Axial muscles involvement, such as rectus abdominis rigidity, is the main clinical characteristic of FIHMM.c.3G>A, p.Met1? mutation in the CRYAB gene is a hotspot mutation in Chinese children.
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Objective In present study,we aimed to investigate the ictal and interictal electroencephalography (EEG) changes in patients with infantile convulsions with mild gastroenteritis,to understand the evolution of EEG and recurrence of convulsion by follow-up.Methods In this retrospective study,all patients with infantile convulsions with mild gastroenteritis visited our hospital from January 2005 to December 2009 were included,and were followed up for 3 to 7 years.All their clinical data were summarized and analyzed.Results Fist of all,we collected 128 interictal EEGs and 4 ictal (5 episodes) reports.Based on interictal EEGs,no discharge was observed in 63 subjects,and epileptic waves were discovered in other 65 patients.In most cases (48/65) epileptic waves were found to be located in the central area.For all 5 recorded ictal EEGs (2 were from same patient),epileptic waves were originated from different regions.Two months later,epileptic waves disappeared in 52/57 cases,but there were still discharge in 5 cases.Secondly,in the 103 cases who were successfully followed up,96 were seizure free,5 had recurrence during fever (3 cases) or gastroenteritis (2 cases),but remained seizure free for last 1.5 to 3.0 years.Overall,convulsion was recurred in 2 cases and finally diagnosed as epilepsy and then treated with antiepileptic drug,keeping seizure free for recent 1.5 to 2.5 years.Conclusion (1) Discharge can be found in nearly half of interictal EEGs in cases with infantile convulsion with mild gastrocnteritis,and most of them are located in central region.(2) All discharge come from local origin in ictal EEGs.(3) Seizure may recur in cases with infantile convulsion with mild gastroenteritis,especially in the presence of causative factors.Some children have risk of developing epilepsy.
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Objective To assess the efficacy and safety of two different protocols of ketogenic diet (KD)-eating on demand or eating at regular intervals for refractory epilepsy in children.Methods Sixty children with refractory epilepsy were randomly divided into eating on demand group (n =30) and eating at regular intervals group (n =30) by random number table method.After taking the whole amount of KD,the capillary blood ketone and glucose level and urine ketone were monitored every 6 hours in 72 continuous hours.Seizure frequency and onset time were recorded.Antiepileptic efficacy and diet tolerability of the two groups were evaluated on 4 weeks,12 weeks,24 weeks and 48 weeks after initiating the diet.Adverse effects were monitored.Results After treatment of 4 weeks,the complete seizure remission rates of eating on demand group and eating at regular intervals group were 33.3％ (10/30) and 30.0％ (9/30) respectively,which suggested a comparable efficacy for two groups (P ＞ 0.05).The day when KD started to work was averaged (6.18 ± 2.42) d and (8.63 ± 2.63) d respectively.The group of eating on demand showed a faster onset of action (P ＜0.05).After treatment of 12 weeks,24 weeks and 48 weeks,complete seizure remission rates of eating on demand group were 30.0％ (9/30),34.8％ (8/23) and 36.8％ (7/19) respectively;the eating at regular intervals group were 33.3％ (10/30),30.4％ (7/23) and 44.4％ (8/18) respectively.The two groups had no significant difference (P ＞ 0.05).One year later,the treatment retention rates of the two groups were 63.3 ％ (19/30) and 60.0％ (18/30) respectively.There was no significant difference (P ＞ 0.05).The adverse effects mainly including transient gastrointestinal symptoms and metabolic disturbances were mostly tolerable and curable.Conclusion The two different protocols of KD-eating on demand and eating at regular intervals are both effective and well-tolerated for refractory epilepsy in children.While protocol of eating on demand is more easier to achieve ketotic state and the effect is more quickly,so it can be more easily received by children.Therefore in clinical practice,we can choose flexible eating time according to children's eating habits,which can improve the therapeutic compliance.
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ObjectiveThis clinical study is aimed to investigate whether levetiracetam (LEV) can improve electrocorticogram (EEG) in epileptic children epilepsy patients with better clinical manifestation but abnormal EEG findings.MethodsTotally 39 children from our neurological clinic with partial or complex partial epilepsy seizure were included in present study and assigned equally into three groups receiving different treatment:control group,sodium valproate (VPA) group,and LEV group.Their clinical symptoms had been controlled for over one year by carbamazepine ( CBZ),but EEG results showed clearly abnormal.Epileptiform discharges were observed in routine EEG exams half a month before recruiting.After recruiting,they continued to receive CBZ alone (control group) or co-treated with VPA ( VPA group) or LEV (LEVgroup),respectively.Six months later,EEG was taken again and results were analyzed.ResultsImprovement rate were 9.1％ ( control group),23.1％ ( VPA group),and 66.7％ (LEV group),respectively;Overall statistical difference was reached among three groups ( P＜0.01 ) and between control group and LEV group( P＜0.012 5 ),but no statistical difference between control group and VPA group was reached ( P＞0.0125).ConclusionCo-treatment of LEV in child epilepsy patients receiving CBZ can significantly decrease abnormal EEG discharge frequency during interictal period.
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Objective To explore the common pathogen of infantile convulsions associated with mild gastroenteritis, and to study the differences between the seizures caused by the two kinds of virus.Methods RT-PCR was used to detect Rotavirus (RV) and Norwalkvirus (NoV) in stool and cerebrospinal fluid of 30 cases with infantile convulsions associated with mild gastroenteritis. The differences between the frequency of seizures caused by two kinds of virus were analyzed by statistical methods (two-sample t-test).Results 17/30 (56. 7%) were RV-positive in stool and 3/17 (17. 7%) in cerebrospinal fluid; 6/30 (25.0%) were NoV-positive in stool and 1/6 (16. 7%) in cerebrospinal fluid. The seizure frequency with NoV infection was (4. 33 ± 1.75) times, and RV infection patients was (2. 53 ± 1.12) times (P ＜ 0. 01).The seizure frequency of CSF virus-positive children was (4. 75 ± 1.71) times compared to (2. 63 ± 1.21)times in virus-negative children (P ＜ 0.01). Conclusion The common pathogens causing infantile convulsions associated with mild gastroenteritis were RV and NoV. The degree of NoV infection affecting the central nervous system may be greater than RV. The presence of the virus in cerebrospinal fluid may lead to higher incidence of seizures,but their exact roles related to the occurrence of seizures remain to be further studied.
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Objective To analyse the value of video-EEG (VEEG) in the infantile spasms (IS)children treated with adrenocorticotrophic hormone (ACTH). Methods The clinical data of 65 children with IS in our hospital from Jan 2005 to Dec 2009 were collected and the characteristics of VEEG were analyzed before and after treated with ACTH. Results All the 65 cases appeared hypsarrhythmia in the interphase before treated with ACTH. Cluster spasms and the characteristics of VEEG were recorded. After treated with ACTH,40 of 65 cases (61.5%) with epileptic seizure were controlled,in whom 27 cases (67.5% ,27/40)with hypsarrhythmia disappeared or improved obviously. The other 25 of 65 cases (38.5%) with epileptic seizure were uncontrolled,in whom only 5 cases (20. 0% ,5/25) with hypsarrhythmia disappeared. The rate of hypsarrhythmia disappeared or improved was significantly different between the epileptic seizure controlled and uncontrolled children (x2 = 13. 888, P ＜ 0. 000). Conclusion VEEG is not only important to make a definite diagnosis for IS,but also can provide an evidence in evaluating the effect of ACTH in IS children.