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Objective:To explore the influence factors of neurodevelopmental disorders in children with SCN8A-related early-onset epilepsy through analyzing their clinical characteristics and following up their neurodeve-lopmental status. Methods:A retrospective analysis was carried out on 21 children (13 males and 8 females, the age ranged from 4 months to 8 years, average 31.6 months)with SCN8A-related early-onset epilepsy treated in Guangzhou Women and Children′s Medical Center and Kunming Children′s Hospital between January 2017 and February 2021.All patients underwent whole-exome sequencing and Sanger sequencing.The pathogenicity was estimated according to the American College of Medical Genetics and Genomics guidelines.The clinical data of all patients were also collected, including the age of onset of the disease, forms of seizures, seizure frequency, neurological development at onset, electroencephalogram (EEG) and brain magnetic resonance imaging (MRI). Besides, the patients were followed up to acquire the effect of sodium channel blockers after the onset of seizures, the process or improvement of neurodeve-lopment, EEG evaluation and neurodevelopmental outcomes.Patients were grouped based on data analysis results.The Fisher′s exact test was conducted to measure the effect of various factors on the neurodevelopmental process and outcome, and corresponding coe-fficients were calculated. Results:The average onset age of 21 patients was 0-9 months.The follow-up duration was 4 months-8 years.Three cases died.Sixteen cases (76.2%) had early infantile epileptic encephalopathy (EIEE), 5 cases (23.8%) had epilepsy without encephalopathy, and 1 case had benign infantile epilepsy.Fourteen cases (66.7%) belonged to drug resistant epilepsy.Only one child showed normal neurodevelopment.Eleven children showed delayed neurodevelopment, but improvement was observed.Nine children were retrogressed and stagnated in terms of neurodevelopment.Small age at onset ( Fisher=9.517, P=0.020, r=0.571), high seizure frequency ( Fisher=10.512, P=0.003, r=0.572), EEG background ( Fisher=10.512, P=0.003, r=0.572), epileptic discharges ( Fisher=8.288, P=0.008, r=0.542), and EEG changes before and after treatment ( Fisher=10.437, P=0.009, r=0.586) were important factors affecting the neurodevelopmental process.Neurodevelopmental outcome was normal in only 1 case, 1 child belonged to mild mental retardation (MR), 7 children belonged to moderate MR, 3 children belonged to severe MR, and 9 children belonged to profound MR.Statistical analysis indicated that the clinical phenotype ( Fisher=10.059, P=0.004, r=0.739) and drug resistance ( Fisher=13.706, P=0.001, r=0.640) were significantly correlated with neurodevelopmental outcomes.However, the forms of seizures, EEG findings at onset and mutation sites were not related to neurodevelopmental disorders. Conclusions:Most children with SCN8A-related early-onset epilepsy are accompanied with neurodevelopmental retardation of varying degrees.Epileptic encephalopathy and poor response to drug treatment will lead to severe neurodevelopmental disorders.
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Objective@#To investigate the clinical characteristics, treatment and prognosis of relapsed demyeli-nating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.@*Methods@#Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children′s Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.@*Results@#Ten children were included with the age of (6.4±3.6) years old, and male to female ratio was 4∶6.(1)Clinical phenotype: all children had 24 episodes during follow-up, with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes, ADEM (9/14 times) was the most common, followed by optic neuritis(ON)(3/14 times)and brainstem encephalitis (2/14 times). By the final follow-up, the final diagnosis was multiphasic disseminated encephalomyelitis(MDEM)(6/10 cases), NMOSD(3/10 cases), ADEM-ON(1/10 case), respectively.(2)Laboratory examination: all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1∶640)(6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group(1∶320)(4 cases). (3)Imaging changes: 25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage, MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis: intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases), mycophenolate mofetil (4/10 cases), IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD, 3 cases of MDEM and 1 case of ADEM-ON, including motor dysfunction, learning disability and inattention, symptomatic epilepsy and visual impairment.@*Conclusions@#ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients, residual neurological sequelae were related to the type of repeated demyelination.
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Objective To investigate the clinical characteristics,treatment and prognosis of relapsed demyelinating disease (RDD) associated with myelin oligodendrocyte glycoprotein antibodies (MOG abs) children in southern China.Methods Children with RDD associated with MOG abs at Department of Neurology in Guangzhou Women and Children's Medical Center from January 2015 to December 2018 were retrospectively analyzed.The annualized relapse rates (ARRs) and expand disability status scale (EDSS) were used to assess the recurrence frequency and neurological dysfunction respectively.Results Ten children were included with the age of (6.4 ± 3.6) years old,and male to female ratio was 4 ∶ 6.(1)Clinical phenotype:all children had 24 episodes during follow-up,with acute disseminated encephalomyelitis (ADEM)(7/10 cases) and neuromyelitis optica spectrum disorders (NMOSD)(3/10 cases) on the first episode.Among 14 recurrent episodes,ADEM (9/14 times) was the most common,followed by optic neuritis(ON) (3/14 times) and brainstem encephalitis (2/14 times).By the final follow-up,the final diagnosis was multiphasic disseminated encephalomyelitis (MDEM) (6/10 cases),NMOSD (3/10 cases),ADEM-ON (1/10 case),respectively.(2) Laboratory examination:all the children had positive serum MOG abs in the acute stage.The serum MOG abs titer high group(≥1 ∶ 640) (6 cases)on the first episode complicated ON (3 cases) and long segment myelitis (3 cases) more common than those of low group (1 ∶ 320) (4 cases).(3)Imaging changes:25 times of bain magnetic resonance imaging (MRI) were performed in the acute stage,MRI changes mostly involved the cortex and subcortical white matter.Four cases had abnormal spinal cord MRI.(4)Treatment and prognosis:intravenous methylprednone (IVMP) combined with intravenous immunoglobulin (IVIG) were administrated in acute stage.Rituximab (2/10 cases),mycophenolate mofetil (4/10 cases),IVIG (2/10 cases) monthly and low dose prednisone orally (2/10 cases) were given respectively in maintains stage.ARRs decreased from 1.4 to 0 and EDSS score improved significantly after these treatments above.Seven cases had residual neurological dysfunction with 3 cases of NMOSD,3 cases of MDEM and 1 case of ADEM-ON,including motor dysfunction,learning disability and inattention,symptomatic epilepsy and visual impairment.Conclusions ADEM is the most common form of RDD associated with MOG abs in children.Those with high serum MOG abs titer on the first episode are prone to have ON or long segment myelitis.Immunomodification therapy is effective in the relapsed patients,residual neurological sequelae were related to the type of repeated demyelination.
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Objective To investigate the effect of propofol and midazolam anesthesia in the treatment of persistent state of intractable epilepsy in children.Methods A total of fifty children with intractable epilepsy were selected in Guangzhou Women and Children''s Medical Center from May 2011 to May 2016,and were divided into propofol group and midazolam group according to the method of anesthesia,each group 25 cases.In the treatment,continuous EEG and ECG monitoring were applied in both groups,and the changes in hemodynamics were recorded in order to compare the medication and treatment effects.Results After epilepsy was under control and drug was withdrawn,the heart rate (HR),systolic pressure (SBP),diastolic pressure (DBP) of the two groups were all reduced,lower than the data collected before the treatment,the differences were statistically significant (P<0.05);in the propofol group,HR and SBP after control were (93.21±17.61) time/min and (92.44±12.84) mmHg (1 mmHg=0.133 kPa),lower than those of the midazolam group((109.84±18.41) time/min,(101.93±14.79) mmHg,t=3.264,2.423,P<0.05);the medication time,control time,intubation time of the propofol group were all shorter than those of the midazolam group ((13.21±2.14) h vs.(15.39±3.39) h,(3.47±0.89) min vs.(8.79±1.21) min,(2.03±0.79) d vs.(6.31±1.34) d,t=2.719,17.709,13.757,P<0.05);the total effective rate in the propofol group was significantly higher than that of the midazolam group (97.5%(39/40) vs.82.5%(33/40),χ2=5.357,P=0.021).Conclusion Propofol is effective in the treatment of persistent state of intractable epilepsy in children with good sedative effect,and can also reduce children''s resistance,therefore it''s worth promoting and applying into treatment.
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Objective To investigate the clinical features and the imaging examination changes of bacterial meningitis in children of different age groups,and to offer theoretical basis for the clinic diagnosis of bacterial meningi-tis. Methods The sick children with bacterial meningitis treated in Guangzhou Women and Children′s Medical Center from January 2011 to June 2013,were recruited and divided into three groups according to the age,including newborns group,infants group and more than 1 year group. Eighty-nine cases with purulent meningitis were recruited,included 58 males and 31 females. Among them,there were 34 cases in the newborns group,41 cases in the infants group and 14 ca-ses in the more than 1-year group. The information on the clinical features,laboratory examination and the imaging ex-amination were summarized and analyzed,and were compared among the 3 groups. Results (1)Among them,54 cases with high fever,44 cases with respiratory symptoms,12 cases with alimentary tract symptoms. (2)The major neurologi-cal features included convulsions(44 cases,49. 4%),fatigue(36 cases,40. 4%),vomiting(21 cases,23. 6%),cervical rigidity(9 cases,10. 1%),fontanel full(7 cases,7. 9%),headache(6 cases,6. 7%),limb paralysis(5 cases,5. 6%). The percentage of high fever,vomiting,headache,cervical rigidity in the more than 1 year group were significantly more than those of the newborns group and the infants group(χ2=10. 093,12. 063,34. 466,7. 177,all P<0. 05). (3)Among them,whitebloodcell(WBC)accountswerefrom2.20to60.60×109/L,themeanwas(16.49±10.37)×109/L.Hy-persensitive C-reaction protein concentration in blood was 4. 00 to 376. 53 g/L,the mean was (131. 07±86. 91) g/L. In cerebrospinal fluid(CSF),WBC accounts were from 1 to 21 800×106/L,the mean was (910. 05±274. 07)×106/L, the glucose concentration from 0. 00 to 4. 50 mmol/L,the mean (1. 72±1. 03)mmol/L,the protein concentration from 0. 42 to 4. 89 g/L,the mean was(1. 64±1. 03)g/L. In 40 cases with atypical CSF change, 23 cases with CSF glucose ratio(CSF glucose/blood glucose) less than or equal to 0. 4, and 15 cases with blood cultures positive. (4)The image examination showed magnetic resonance imaging( MRI) abnormalities in 51/75 cases,computerized tomography( CT) scan abnormalities in 15/30 cases. The percentage of convulsions,the brain MRI abnormalities and the MRI display rate of bacterial meningitis in the infants group were significantly more than those of the newborns group and the more than 1 year group(χ2=11. 768,9. 047,7. 674,all P<0. 05). The display rate of meningitis and subdural hydroma by the brain MRI were significantly more than those of the head CT scan(χ2=7. 430,5. 291,all P<0. 05). Conclusions Be-cause of the atypical clinical features of bacterial meningitis in newborn and infant, lumber puncture should be per-formed in all doubtful cases who had a fever and/or seizure. CSF glucose less than or equal to 0. 4 of simultaneously ob-tained blood glucose value,the enhanced MRI sequence or blood cultures were useful for the likelihood of meningitis,if CSF chemistries and cytology vary atypically. The MRI sequence can significantly mostly improve the display rate of bacterial meningitis than the enhance CT.