Pediatric neurological disorders comprise diverse conditions that impair nervous system function in children and contribute substantially to global disease burden.Stem cell therapy has become a promising treatment in ...Pediatric neurological disorders comprise diverse conditions that impair nervous system function in children and contribute substantially to global disease burden.Stem cell therapy has become a promising treatment in neurology due to the cells'ability to self-renew,ensuring a continuous supply of cells.Cells are harvested from various origins,notably embryonic tissues and adult sources such as bone marrow,adipose tissue,and umbilical cord.Therapeutic effects arise from cell or enzyme replacement,trophic support,immunomodulation,and paracrine actions of the secretome.This review summarizes clinical applications of stem cell therapies across pediatric neurological diseases—including autism spectrum disorder,cerebral palsy,traumatic brain and spinal cord injury,epilepsy,neuromuscular disorders,and lysosomal storage diseases—and appraises evidence from preliminary descriptive studies that update the field and reveal methodological limitations.Reported therapeutic effect differs markedly by cell type,disease biology,timing of intervention,dose,and delivery method,producing inconsistent clinical results.Positive functional or developmental improvements have been documented in selected reports,but safety concerns,heterogeneity in study design,short follow-up,and variable potency assays limit conclusions.Because stem cell populations share phenotypic features but vary in therapeutic capacity,a universal,onesize-fits-all strategy is unlikely to succeed.Critical gaps remain regarding long-term safety,durability,standardized manufacturing,and optimal clinical endpoints.Continued rigorous translational research,standardized clinical trials,and expanded long-term surveillance are essential to optimize these therapies and improve outcomes for affected children and to ensure equitable access for diverse pediatric populations worldwide and sustainable implementation.展开更多
Background: Bacterial meningitis is one of the most severe infections in infants and children. It is associated with high mortality and neurological sequelae. In order to improve the prognosis of infants and children ...Background: Bacterial meningitis is one of the most severe infections in infants and children. It is associated with high mortality and neurological sequelae. In order to improve the prognosis of infants and children with purulent meningitis, we decided to conduct this study whose main objective was to identify the main pathogens responsible and describe the outcome in infants and children aged 2 months to 15 years admitted for purulent meningitis at the Yaounde Gyneco-Obstetric and Pediatric Hospital (YGOPH). Method: This was a cross-sectional study with retrospective data collection and consecutive sampling. Our study was conducted from 1 January 2009 to 31 December 2013. The patients included in the study were infants and children aged from 2 months to 15 years who were admitted for bacterial meningitis at the YGOPH, confirmed by bacteriological examination of cerebrospinal fluid (CSF) with identification of the pathogen by culture or soluble antigen. The data was analyzed using SPSS Version 18.0 and Excel 2007. The Chi-square test was used to determine the association of various variables. The significance threshold was set as P 0.05. Results: We selected 171 cases of purulent meningitis who represented 1.54% of admitted patients. The sex ratio was 1.2. We noted that 45% of our patients were aged 2 months to 1 year. The main presenting complaints were fever (98.8%), seizures (44.4%) and vomiting (28.7%). Haemophilus influenzae was found in 67 children (39.2%), followed by Streptococcus pneumoniae in 54 children (31.6%) and Neisseria meningitidis in 17 children (9.9%). Acute complications (status epilepticus, coma) were seen in 33% of patients. The statistically significant (P 0.05) factors for poor prognosis were aged from 2 months to 1 year (P = 0.0004), coma (P = 0.32), intracranial hypertension (P = 0.0001), the pathogen (P = 0.0032Pneumococcus), a delay of more than three days between the onset of the disease and the treatment (P = 0.0134) and brain abscess (P = 0.0001). We identified 32 deaths (18.7%) and 17 cases (9.9%) with neurological sequelae before discharge. Conclusion: The incidence of acute bacterial meningitis remains high in our context. The main causes were Haemophilus influenzae, Streptococcus pneumoniae and Neisseria meningitis. The mortality rate was high with poor prognosis factors such as age less than 12 months, delayed care, pneumococcal meningitis, coma, brain abscess, and intracranial hypertension. Focus should be placed on strengthening the routine immunization on vaccine-preventable diseases of infants and children against Haemophilus influenzae, Pneumococcus and Meningococcus.展开更多
Background: According to the World Health Organization, about 5% of children world-wide of 14-year-old and under have a moderate to severe developmental disability, and up to 15% of children under 5-year-old are devel...Background: According to the World Health Organization, about 5% of children world-wide of 14-year-old and under have a moderate to severe developmental disability, and up to 15% of children under 5-year-old are developmentally delayed. Purpose: To determine the prevalence, socio-demographic profile, aetiologies, and the clinical presentation of developmental delay in children less than 6-year-old at the child neurology unit in a university-affiliated hospital in Yaounde. Materials and methods: It was a crosssectional descriptive study carried out in Yaounde Gynaeco-Obstetric and Paediatric Hospital (Cameroon) from August to December 2012. Children aged between 5 - 72 months with a developmental quotient less than 70 were enrolled. Developmental delay (DD) was diagnosed and classified using the Denver developmental screening test (DDST). Data concerning the child (age, gender, severity of DD), the mother (age, age at conception, educational level, marital status), history of pregnancy and delivery, perinatal and postnatal events, results of para-clinical explorations (EEG, CT-scan, genetic tests), the severity of DD and the probable or demonstrate cause of DD were recorded on a standardized questionnaire. The chisquare test was used to compare variables. Results: During the study period, 2171 children aged 5 - 72 months consulted the paediatric department of the hospital, 296 were examined at the child neurology unit of which 153 had a developmental quotient less than 70, giving a hospital prevalence of 7.0% and a prevalence of 51.7% at the child neurology unit. The mean age was 26.6 ± 18.0 months and there were 56% males. The main reason for consulting was tonus disorder (43.8%) and the developmental area of parental concern was the motor domain (90.2%). Regarding the clinical presentation, 75.2% of our population were children with cerebral palsy. DD was severe, mild, moderate and profound respectively in 14.2%, 13.5%, 12.2%, and 11.1%. Gross DD represented 90.2% of all DD children. The causes of DD were hypoxic-ischemic encephalopathy (41.8%), epilepsy (13.7%), sequelae of meningitis (6.5%), sequelae of kernicterus (6.5%), and infectious embryofoetopathies (5.2%). Conclusion: Developmental delay is frequent in paediatric neurology, with perinatal disorders being the leading aetiologies in Cameroon. Prevention of perinatal hypoxic-ischemic encephalopathy risk factors needs to be reinforced.展开更多
Purpose: To understand the multiple signs of Horner syndrome and to recommend protocols for pediatricians to obtain an accurate diagnosis of Horner syndrome. Methods: The medical records of 17 pediatric patients with ...Purpose: To understand the multiple signs of Horner syndrome and to recommend protocols for pediatricians to obtain an accurate diagnosis of Horner syndrome. Methods: The medical records of 17 pediatric patients with Horner syndrome, neonates to eighteen years of age, were collected and analyzed. Data recorded included age, presenting symptoms, other medical history, allergies, medications, pupil size, presence of anhidrosis, and presence of ptosis. From the available pupil sizes, average degree of anisocoria was calculated. Results: All 17 patients had other clinical findings of Horner syndrome in addition to anisocoria. On initial evaluation, 100% had ptosis and 25% had anhidrosis. Of the available pupil size data, the average level of anisocoria was 2.06 mm, with a standard deviation of 1.17 mm. Conclusion: Physicians are reminded to measure pupil size to determine the degree of anisocoria when present, as it may help distinguish benign conditions from underlying pathology. Educating pediatricians on measurement of anisocoria and additional signs of Horner syndrome will help with proper referral patterns.展开更多
Optical coherence tomography(OCT)is a technology that is widely used to assess structural abnormalities in the retina for a variety of pediatric conditions.The introduction of this instrument has allowed for widesprea...Optical coherence tomography(OCT)is a technology that is widely used to assess structural abnormalities in the retina for a variety of pediatric conditions.The introduction of this instrument has allowed for widespread access to minimally invasive standardized,reproducible quantified structural assessments of the optic nerve and retina.This has had important implications in pediatric optic neuropathies,populations in whom monitoring of disease activity is essential to make treatment decisions.OCT has had particular relevance for inflammatory optic neuropathies,as onset of an inflammatory optic neuropathy may herald the onset of a chronic inflammatory disorder of the central nervous system(CNS)such as multiple sclerosis,neuromyelitis optica spectrum disorder(aquaporin 4 antibody positive),and myelin oligodendrocyte glycoprotein(MOG)associated disorders.This paper will focus on the application of OCT technology to this group of disorders in pediatrics.After reviewing pediatric-specific anatomic and practical issues pertinent to OCT,we will review knowledge related to the use of OCT in inflammatory pediatric optic neuropathies,with a focus on structural outcomes and their correlation with functional outcome metrics.展开更多
Introduction: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a neuroregressive disorder associated with subacute encephalopathy, confusion, dysarthria, and dysphagia, as well as occasional external ophtha...Introduction: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a neuroregressive disorder associated with subacute encephalopathy, confusion, dysarthria, and dysphagia, as well as occasional external ophthalmoplegia or supranuclear facial nerve palsy. It may progress to severe rigidity, dystonia, and quadriparesis. Combination therapy of high-dose thiamine and biotin helps to control the symptoms and prevent progression of the disease. Methods: This retrospective, cross-sectional study was conducted at King Fahad Medical City in Riyadh, Saudi Arabia, to investigate the demographic, clinical features, treatment response, outcomes, and predictive factors of BTBGD in the pediatric population. Results: Twenty-five records of pediatric patients diagnosed with BTBGD were included in the study. The most common symptoms observed at presentation were ataxia in 13 patients (52%), followed by developmental regression in 11 patients (44%), and seizures in 7 patients (28%). Statistically significant associations were found between patient’s age of presentation, seizures at presentation, lactate level and their health outcomes. Multivariate logistic regression analysis revealed significant differences in patient outcomes (prognosis) based on their age at presentation, seizures, and lactate levels (p Conclusion: This study reported BTBGD in 25 pediatric patients in Saudi Arabia. Age at presentation, seizures, and lactate levels were found to be significantly associated with patient health outcomes. Increasing public awareness of the condition, particularly among parents and pediatricians, is imperative. Early diagnosis, along with timely management using biotin and thiamine supplementation, promotes improved health outcomes and prevents progressive neurodegeneration and death.展开更多
Autism is a heterogeneous condition with a rising prevalence and demand for specialized care.Autistic children are more likely than neurotypical peers to experience co-occurring conditions(CCs),including medical,psych...Autism is a heterogeneous condition with a rising prevalence and demand for specialized care.Autistic children are more likely than neurotypical peers to experience co-occurring conditions(CCs),including medical,psychiatric,and behavioral issues,highlighting the urgent need for autism-competent healthcare providers in general healthcare.This review aims to equip primary care providers(PCPs)with a concise summary of common CCs and strategies for effective identification.A panel of experts with extensive experience in caring for autistic children collaboratively summarized key literature,research evidence,and existing clinical trial outcomes,supplementing their clinical expertise.Autistic children consistently show higher rates of both medical and mental health issues.Despite greater healthcare utilization,many autistic individuals report unmet needs.CCs can impair behavior,functioning,and well-being,but are often treatable when recognized early.Timely identification and management of medical and psychiatric CCs are critical for improving outcomes for autistic children and their families.This evidence-based review supports PCPs in enhancing their knowledge,fostering early recognition,and delivering comprehensive,responsive care.展开更多
BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectru...BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectrum disorder(ASD),and epilepsy is very rare.Indeed,only one case of the triad has currently been reported.Here,we present a detailed case report of a ten-year-old boy with DMD,ASD,and epilepsy.We also investigated the dysregulation of miRNAs in this unusual triad(represented as DMD++)compared with a healthy individual and a DMD patient(represented as DMD+)without autism.AIM To understand the differential expression of miRNAs in rare comorbid DMD cases.METHODS The Sequin Form Board test,Gesell's drawing test,multiplex ligation probe amplification,and Vineland Social Maturity Scale were applied to confirm the DMD and ASD.Total RNA was isolated from samples using TRIzol.cDNA was synthesized using the Mir-X^(TM)miRNA First-Strand Synthesis kit.qRT-PCR was performed using SYBR Advantage qPCR Premix.The results were statistically analyzed using one-way analysis of variance with Tukey's ttest.RESULTS miR-146a-5p and miR-132-5p showed significant downregulation in both patient samples.miR-199a-5p and miR-146a-3p showed no change in expression between the diseased and controls.miR-132-3p showed downregulation only in the DMD+sample(0.21±0.04).The decrease in miR-132-3p can result in failed silencing of the phosphatase and tensin homolog-mediated apoptotic pathway,leading to severe skeletal muscle atrophy.Here,the downregulation of miR-132-3p in DMD+is consistent with severe muscle loss and higher disease progression than that in DMD++.DMD++has slower disease progression,and the expression of miRNA involved in inflammatory and apoptotic responses is more similar to that of the control.CONCLUSION Our study shows marked difference in miRNA expression in this rare case of DMD with autism and epilepsy.These miRNAs also serve as regulators of several muscle regeneration,apoptosis,and inflammatory pathways.This study shows the significance of studying miRNAs in such rare cases in a larger cohort to progress in several intervention treatments utilizing miRNAs.展开更多
AIM To investigate whether patients with refractory epilepsy and healthy infants differ in gut microbiota(GM),and how ketogenic diet(KD)alters GM.METHODS A total of 14 epileptic and 30 healthy infants were recruited a...AIM To investigate whether patients with refractory epilepsy and healthy infants differ in gut microbiota(GM),and how ketogenic diet(KD)alters GM.METHODS A total of 14 epileptic and 30 healthy infants were recruited and seizure frequencies were recorded.Stool samples were collected for 16 S r DNA sequencing using the Illumina Miseq platform.The composition of GM in each sample was analyzed with MOTHUR,and intergroup comparison was conducted by R software.RESULTS After being on KD treatment for a week,64%of epileptic infants showed an obvious improvement,with a 50%decrease in seizure frequency.GM structure in epileptic infants(P1 group)differed dramatically from that in healthy infants(Health group).Proteobacteria,which had accumulated significantly in the P1 group,decreased dramatically after KD treatment(P2 group).Cronobacter predominated in the P1 group and remained at a low level both in the Health and P2 groups.Bacteroides increased significantly in the P2 group,in which Prevotella and Bifidobacterium also grew in numbers and kept increasing.CONCLUSION GM pattern in healthy infants differed dramatically from that of the epileptic group.KD could significantly modify symptoms of epilepsy and reshape the GM of epileptic infants.展开更多
Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of s...Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction,heart block or malignant arrhythmias. Not only DMD/BMD patients,but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent,due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects,arrhythmias(supraventricular or ventricular),hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction,independently of age of onset or mutation groups. Cardiovascular magnetic resonance(CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies' patients and carriers that can be observed even if overt muscular disease is absent. Recently,new CMR techniques,such as postcontrast myocardial T1 mapping,have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications.展开更多
Echinococcosis or hydatid disease （HD） is a zoonosis caused by the larval stages of taeniid cestodes belong- ing to the genus Echinococcus. Hepatic echinococcosis is a life-threatening disease, mainly differentiated...Echinococcosis or hydatid disease （HD） is a zoonosis caused by the larval stages of taeniid cestodes belong- ing to the genus Echinococcus. Hepatic echinococcosis is a life-threatening disease, mainly differentiated into alveolar and cystic forms, associated with Echinoc- cus multilocularis （E. multi/ocular/s） and Echinococcus granulosus （E. granulosus） infection, respectively. Cys- tic echinococcosis （CE） has a worldwide distribution, while hepatic alveolar echinococcosis （AE） is endemic in the Northern hemisphere, including North America and several Asian and European countries, like France, Germany and Austria. E. granulosus young cysts are spherical, unilocular vesicles, consisting of an internal germinal layer and an outer acellular layer. Cyst expansion is associated with a host immune reaction and the subsequent development of a fibrous layer, called the per/cyst; old cysts typically present internal septa- tions and daughter cysts. E. multilocularis has a tumor-like, infiltrative behavior, which is responsible for tissue destruction and finally for liver failure. The liver is the main site of HD involvement, for both alveolar and cystic hydatidosis. HD is usually asymptomatic for a long period of time, because cyst growth is commonly slow; the most frequent symptoms are fatigue and abdominal pain. Patients may also present jaundice, hepatomegaly or anaphylaxis, due to cyst leakage or rupture. HD diagnosis is usually accomplished with the combined use of ultrasonography and immunodiagnosis; furthermore, the improvement of surgical techniques, the introduction of minimally invasive treatments [such as puncture, aspiration, injection, re-aspiration （PAIR）] and more effective drugs （such as benzoimidazoles） have deeply changed life expectancy and quality of life of patients with HD. The aim of this article is to provide an up-to-date review of biological, diagnostic, clinical and therapeutic aspects of hepatic echinococcosis.展开更多
Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to t...Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to two different antiepileptic drugs, oxcarbazepine（OXC） and phenobabital（PB）. In addition, we genotyped HLA-B 1511 in a case of CBZ-induced SJS with genotype negative for HLA-B 1502. The presence of HLA-B 1502 was determined using polymerase chain reaction with sequence-specific primers（PCR-SSP）. Moreover, we genotyped HLA-B 1502 in 17 cases of antiepileptic drugs（AEDs）-induced cutaneous adverse drug reactions（cADRs）, in comparison with AEDs-tolerant（n=32） and normal controls（n=38） in the central region of China. The data showed that HLA-B 1502 was positive in 5 of 6 cases of AEDs-induced SJS（4 CBZ, 1 OXC and 1 PB）, which was significantly more frequent than AEDs-tolerant（2/32, 18 CBZ, 6 PB and 8 OXC） and normal controls（3/38）. Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B 1502 with AEDs-induced SJS was 6.25（95% CI： 1.06–36.74） and 4.86（95% CI： 1.01–23.47）. The sensitivity and specificity of HLA-B 1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B 1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B 1502 was not found in 11 children with maculopapular exanthema（MPE）（n=9） and hypersensitivity syndrome（HSS）（n=2）. However, we also found one case of CBZ-induced SJS who was negative for HLA-B 1502 but carried HLA-B 1511. It was suggested that the association between the CBZ-induced SJS and HLA-B 1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B 1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B 1502.展开更多
Sleep disturbances are common in childhood and adolescence. Sleep problems in early infants tend to be persistent and prominent in preschool and school-aged children. Chronic sleep disorders, especially in young child...Sleep disturbances are common in childhood and adolescence. Sleep problems in early infants tend to be persistent and prominent in preschool and school-aged children. Chronic sleep disorders, especially in young children may lead to neurobehavioral problems and psycho-cognitive impairment. Sleep difficulties may be the result of underlying medical conditions, （breathing disorders） or psychological problems. Research studies have shown the association between sleep disorders and day time cognitive impairment, behavioral problems, poor school performance and inattention in children. Appropriate diagnosis and early management of sleep disorders in children lead to improvement of neurocognitive function and behavioral problems in these children.展开更多
AIM： To evaluate the clinical presentation, response to prophylactic therapy and outcome of children with cyclic vomiting syndrome （CVS） in Shiraz, Iran. METHODS： During a period of 11 years （March 1994 to March ...AIM： To evaluate the clinical presentation, response to prophylactic therapy and outcome of children with cyclic vomiting syndrome （CVS） in Shiraz, Iran. METHODS： During a period of 11 years （March 1994 to March 2005）, 181 consecutive children with a final diagnosis of CVS were evaluated, treated and followed in our center. Patients were randomized to receive either amitriptyline or propranolol as prophylactic treatments. RESULTS： There were 88 boys and 93 girls with mean age of onset of symptoms of 4.9 ± 3.3 years （range, neonatal period to 14 years）, the mean age at final diagnosis was 6.9 years （range, 1.5 to 14）, and the mean duration between the onset of the first attack and the final diagnosis of CVS was 2 ± 1.81 years （range, 1/6 to 8）. The mean duration of each attack was 4.26 days （range, from few hours to 10 d） and the mean interval between the attacks was 1.8 mo （range, 1 wk to 12 too）. The time of onset of the attacks was midnight to early morning in about 70% of cases. Amitriptyline was effective in 46 out of 81 （56%） patients （P 〈 0.001）. Propranolol appeared to have a superior action and was effective in 74 out of 83 （92%） patients （P 〈 0.0001）. CONCLUSION： There is a significant lag time between the onset of clinical symptoms and the final diagnosis of CVS in our area. In patients with typical clinical presentations of CVS, who are examined by an experienced physician, invasive workup is not necessary. Propranolol appears more effective than arnitriptyline for prophylactic use in children with CVS.展开更多
Extensive lesions involving the posterior quadrant of the cerebral hemisphere （temporal, parietal, and occipital lobes） induce intractable epilepsy. These patients are potential candidates for surgical treatmenttu. ...Extensive lesions involving the posterior quadrant of the cerebral hemisphere （temporal, parietal, and occipital lobes） induce intractable epilepsy. These patients are potential candidates for surgical treatmenttu. Maintenance of isolated nerve tissue activity after surgery plays a crucial role in the neuroprotective effects of neurosurgery treatment. Disconnection surgery of the posterior quadrant is used to completely isolate nerve fibers, while blood supply at the isolated lobes is maintained. Subsequently, cavities caused by cystic or necrotic nerve tissues should be reduced as much as possible,展开更多
Voltage gated calcium channel(VGCC) antibodies are generally associated with Lambert-Eaton myasthenic syndrome. However the presence of this antibody has been associated with paraneoplastic as well as nonparaneoplasti...Voltage gated calcium channel(VGCC) antibodies are generally associated with Lambert-Eaton myasthenic syndrome. However the presence of this antibody has been associated with paraneoplastic as well as nonparaneoplastic cerebellar degeneration. Most patients with VGCC-antibody-positivity have small cell lung cancer(SCLC). Lambert-Eaton myasthenic syndrome(LEMS)is an autoimmune disease of the presynaptic part of the neuromuscular junction. Its classical clinical triadis proximal muscle weakness, areflexia and autonomic dysfunction. Fifty to sixty percent of LEMS patients have a neoplasia, usually SCLC. The co-occurrence of SCLC and LEMS causes more severe and progressive disease and shorter survival than non-paraneoplastic LEMS. Treatment includes 3,4 diaminopyridine for symptomatic purposes and immunotherapy with prednisolone, azathioprine or intravenous immunoglobulin in patients unresponsive to 3,4 diaminopyridine. Paraneoplastic cerebellar degeneration(PCD) is a syndrome characterized with severe, subacute pancerebellar dysfunction. Serum is positive for VGCC antibody in 41%-44% of patients, usually with the co-occurrence of SCLC. Clinical and electrophysiological features of LEMS are also present in 20%-40% of these patients. Unfortunately, PCD symptoms do not improve with immunotherapy. The role of VGCC antibody in the immunopathogenesis of LEMS is well known whereas its role in PCD is still unclear. All patients presenting with LEMS or PCD must be investigated for SCLC.展开更多
Background Hydrocephalus following intracerebral hemorrhage(ICH)is a common yet treatable complication.Despite its clinical signifcance,the long‑term outcomes and predictive factors associated with hydrocephalus are n...Background Hydrocephalus following intracerebral hemorrhage(ICH)is a common yet treatable complication.Despite its clinical signifcance,the long‑term outcomes and predictive factors associated with hydrocephalus are not well understood,especially in pediatric population with epilepsy.This study aims to investigate the impact of hydrocephalus on children with epilepsy in Saudi Arabia.Methods This observational retrospective study was conducted at the pediatric neurology clinic of a tertiary care epilepsy center.Twenty‑six patients diagnosed with comorbid hydrocephalus and epilepsy were included.Key vari‑ables analyzed included seizure characteristics,age at seizure onset,use of antiseizure medications,seizure control,long‑term developmental outcomes(intellectual and motor),the timing of shunt insertion in relation to seizure onset,and focal EEG changes.Results Among the 26 patients,61.5%(n=16)were males.A notable proportion,57.7%(n=15),exhibited normal electroencephalogram(EEG)results,while 42.3%(n=11)presented with abnormal EEG patterns.Of the 26 patients,38.4%(n=10)had congenital hydrocephalus,while 61.6%(n=16)had acquired hydrocephalus.Seizure frequency varied:38.5%(n=10)experienced only once seizure,11.5%(n=3)had one to four seizures per month and 3.8%(n=1)encountered two to four seizures per day.The majority of hydrocephalus cases(61.5%,n=16)were diagnosed during infancy to two years of age.Shunt insertion was prevalent,with 80.7%(n=21)undergoing the procedure.Developmental delays were observed in 61.5%(n=16)of the patients.Conclusions This study highlights the important role of hydrocephalus in the context of epilepsy among children in Saudi Arabia.Further research with larger sample size is needed to confrm these fndings and provide a basis for improved understanding and targeted interventions in this critical medical area.展开更多
BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic dis...BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn(HDN).Unfortunately,regional status of Rh-HDN is unavailable.We hypothesize that Rh-HDN in our region is most commonly due to anti-E antibody.AIM To investigate the prevalence of hemolytic disease of the newborn due to Rhisoimmunization in Hefei City.METHODS Retrospective review of data obtained from Children’s Hospital of Anhui and Hefei Blood Center between January 2017 and June 2019.Status of minor blood group antibody was studied in the corresponding mothers.RESULTS Totally 4138 newborns with HDN admitted during the study period and 116(2.8%)received blood exchange transfusion(BET).Eighteen newborns(0.43%)with proven Rh-incompatible HDN were identified.All were not the first-born baby.Thirteen mothers were RhD(+)(72%)and five were RhD(-).The distribution of Rh-related antibodies in mothers was ten anti-E(55%),five anti-D(27%),and for one anti-C,anti-c,and anti-E/c(6%)each.Thirteen(72.2%)were qualified for BET,relative risk for BET was 28.9 as compared to other types of HDN,but only 10 received due to parenteral refusal.All(100%)RhD related HDN received BET which is not significantly different from RhE related HDN(81.8%).CONCLUSION As expected,all Rh-incompatible HDN newborns were not the first-born.Contrary to the Caucasian population,anti-D induced HDN is not the most common etiology.In our region,anti-E(11/18,61%)is the most common cause of Rh-HDN.展开更多
BACKGROUND Since the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)epidemic,numerous studies have been published on SARS-CoV-2-related encephalitis/meningitis,but it has not been established if there are ...BACKGROUND Since the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)epidemic,numerous studies have been published on SARS-CoV-2-related encephalitis/meningitis,but it has not been established if there are specific clinical characteristics of encephalitis/meningitis associated with SARS-CoV-2 infection.AIM To identify the specific clinical features of cases of encephalitis/meningitis associated with SARS-CoV-2 infection in the context of this virus infection pandemic and investigate their relationship with SARS-CoV-2 infection.METHODS We searched PubMed,and included single case reports and case series with full text in English,reporting original data of coronavirus disease-19(COVID-19)patients with encephalitis/meningitis and a confirmed recent SARS-CoV-2 infection.Clinical data were extracted.RESULTS We identified 22 articles(18 single case reports and 4 case series)reporting on a total of 32 encephalitis/meningitis patients with confirmed SARS-CoV-2 infection.SARS-CoV-2 infection was confirmed through reverse transcriptase-polymerasechain-reaction(RT-PCR)in 96.88%of cases.A total of 22(68.75%)patients had symptoms of SARS-CoV-2 infection in about 1 wk(7.91 d)preceding the onset of neurologic symptoms.The most common neurological symptoms were consciousness disturbance(59.38%),seizure(21.88%),delirium(18.75%),and headache(18.75%).Four cases were confirmed by positive RT-PCR results in cerebrospinal fluid(CSF),one was confirmed by positive RT-PCR results in postoperative brain tissue,and one by the presence of SARS-CoV-2 antibodies in CSF.The mainly damaged targets identified by neuroimaging included the temporal lobe(15.63%),white matter(12.5%),frontal lobe(9.38%),corpus callosum(9.38%),and cervical spinal cord(9.38%).Eighty percent of patients had electroencephalograms that showed a diffuse slow wave.Twenty-eight(87.5%)patients were administered with specific treatment.The majority(65.63%)of patients improved following systemic therapy.CONCLUSION Encephalitis/meningitis is the common neurological complication in patients with COVID-19.The appropriate use of definitions and exclusion of potential similar diseases are important to reduce over-diagnosis of SARS-CoV-2 associated encephalitis or meningitis.展开更多
文摘Pediatric neurological disorders comprise diverse conditions that impair nervous system function in children and contribute substantially to global disease burden.Stem cell therapy has become a promising treatment in neurology due to the cells'ability to self-renew,ensuring a continuous supply of cells.Cells are harvested from various origins,notably embryonic tissues and adult sources such as bone marrow,adipose tissue,and umbilical cord.Therapeutic effects arise from cell or enzyme replacement,trophic support,immunomodulation,and paracrine actions of the secretome.This review summarizes clinical applications of stem cell therapies across pediatric neurological diseases—including autism spectrum disorder,cerebral palsy,traumatic brain and spinal cord injury,epilepsy,neuromuscular disorders,and lysosomal storage diseases—and appraises evidence from preliminary descriptive studies that update the field and reveal methodological limitations.Reported therapeutic effect differs markedly by cell type,disease biology,timing of intervention,dose,and delivery method,producing inconsistent clinical results.Positive functional or developmental improvements have been documented in selected reports,but safety concerns,heterogeneity in study design,short follow-up,and variable potency assays limit conclusions.Because stem cell populations share phenotypic features but vary in therapeutic capacity,a universal,onesize-fits-all strategy is unlikely to succeed.Critical gaps remain regarding long-term safety,durability,standardized manufacturing,and optimal clinical endpoints.Continued rigorous translational research,standardized clinical trials,and expanded long-term surveillance are essential to optimize these therapies and improve outcomes for affected children and to ensure equitable access for diverse pediatric populations worldwide and sustainable implementation.
文摘Background: Bacterial meningitis is one of the most severe infections in infants and children. It is associated with high mortality and neurological sequelae. In order to improve the prognosis of infants and children with purulent meningitis, we decided to conduct this study whose main objective was to identify the main pathogens responsible and describe the outcome in infants and children aged 2 months to 15 years admitted for purulent meningitis at the Yaounde Gyneco-Obstetric and Pediatric Hospital (YGOPH). Method: This was a cross-sectional study with retrospective data collection and consecutive sampling. Our study was conducted from 1 January 2009 to 31 December 2013. The patients included in the study were infants and children aged from 2 months to 15 years who were admitted for bacterial meningitis at the YGOPH, confirmed by bacteriological examination of cerebrospinal fluid (CSF) with identification of the pathogen by culture or soluble antigen. The data was analyzed using SPSS Version 18.0 and Excel 2007. The Chi-square test was used to determine the association of various variables. The significance threshold was set as P 0.05. Results: We selected 171 cases of purulent meningitis who represented 1.54% of admitted patients. The sex ratio was 1.2. We noted that 45% of our patients were aged 2 months to 1 year. The main presenting complaints were fever (98.8%), seizures (44.4%) and vomiting (28.7%). Haemophilus influenzae was found in 67 children (39.2%), followed by Streptococcus pneumoniae in 54 children (31.6%) and Neisseria meningitidis in 17 children (9.9%). Acute complications (status epilepticus, coma) were seen in 33% of patients. The statistically significant (P 0.05) factors for poor prognosis were aged from 2 months to 1 year (P = 0.0004), coma (P = 0.32), intracranial hypertension (P = 0.0001), the pathogen (P = 0.0032Pneumococcus), a delay of more than three days between the onset of the disease and the treatment (P = 0.0134) and brain abscess (P = 0.0001). We identified 32 deaths (18.7%) and 17 cases (9.9%) with neurological sequelae before discharge. Conclusion: The incidence of acute bacterial meningitis remains high in our context. The main causes were Haemophilus influenzae, Streptococcus pneumoniae and Neisseria meningitis. The mortality rate was high with poor prognosis factors such as age less than 12 months, delayed care, pneumococcal meningitis, coma, brain abscess, and intracranial hypertension. Focus should be placed on strengthening the routine immunization on vaccine-preventable diseases of infants and children against Haemophilus influenzae, Pneumococcus and Meningococcus.
文摘Background: According to the World Health Organization, about 5% of children world-wide of 14-year-old and under have a moderate to severe developmental disability, and up to 15% of children under 5-year-old are developmentally delayed. Purpose: To determine the prevalence, socio-demographic profile, aetiologies, and the clinical presentation of developmental delay in children less than 6-year-old at the child neurology unit in a university-affiliated hospital in Yaounde. Materials and methods: It was a crosssectional descriptive study carried out in Yaounde Gynaeco-Obstetric and Paediatric Hospital (Cameroon) from August to December 2012. Children aged between 5 - 72 months with a developmental quotient less than 70 were enrolled. Developmental delay (DD) was diagnosed and classified using the Denver developmental screening test (DDST). Data concerning the child (age, gender, severity of DD), the mother (age, age at conception, educational level, marital status), history of pregnancy and delivery, perinatal and postnatal events, results of para-clinical explorations (EEG, CT-scan, genetic tests), the severity of DD and the probable or demonstrate cause of DD were recorded on a standardized questionnaire. The chisquare test was used to compare variables. Results: During the study period, 2171 children aged 5 - 72 months consulted the paediatric department of the hospital, 296 were examined at the child neurology unit of which 153 had a developmental quotient less than 70, giving a hospital prevalence of 7.0% and a prevalence of 51.7% at the child neurology unit. The mean age was 26.6 ± 18.0 months and there were 56% males. The main reason for consulting was tonus disorder (43.8%) and the developmental area of parental concern was the motor domain (90.2%). Regarding the clinical presentation, 75.2% of our population were children with cerebral palsy. DD was severe, mild, moderate and profound respectively in 14.2%, 13.5%, 12.2%, and 11.1%. Gross DD represented 90.2% of all DD children. The causes of DD were hypoxic-ischemic encephalopathy (41.8%), epilepsy (13.7%), sequelae of meningitis (6.5%), sequelae of kernicterus (6.5%), and infectious embryofoetopathies (5.2%). Conclusion: Developmental delay is frequent in paediatric neurology, with perinatal disorders being the leading aetiologies in Cameroon. Prevention of perinatal hypoxic-ischemic encephalopathy risk factors needs to be reinforced.
文摘Purpose: To understand the multiple signs of Horner syndrome and to recommend protocols for pediatricians to obtain an accurate diagnosis of Horner syndrome. Methods: The medical records of 17 pediatric patients with Horner syndrome, neonates to eighteen years of age, were collected and analyzed. Data recorded included age, presenting symptoms, other medical history, allergies, medications, pupil size, presence of anhidrosis, and presence of ptosis. From the available pupil sizes, average degree of anisocoria was calculated. Results: All 17 patients had other clinical findings of Horner syndrome in addition to anisocoria. On initial evaluation, 100% had ptosis and 25% had anhidrosis. Of the available pupil size data, the average level of anisocoria was 2.06 mm, with a standard deviation of 1.17 mm. Conclusion: Physicians are reminded to measure pupil size to determine the degree of anisocoria when present, as it may help distinguish benign conditions from underlying pathology. Educating pediatricians on measurement of anisocoria and additional signs of Horner syndrome will help with proper referral patterns.
文摘Optical coherence tomography(OCT)is a technology that is widely used to assess structural abnormalities in the retina for a variety of pediatric conditions.The introduction of this instrument has allowed for widespread access to minimally invasive standardized,reproducible quantified structural assessments of the optic nerve and retina.This has had important implications in pediatric optic neuropathies,populations in whom monitoring of disease activity is essential to make treatment decisions.OCT has had particular relevance for inflammatory optic neuropathies,as onset of an inflammatory optic neuropathy may herald the onset of a chronic inflammatory disorder of the central nervous system(CNS)such as multiple sclerosis,neuromyelitis optica spectrum disorder(aquaporin 4 antibody positive),and myelin oligodendrocyte glycoprotein(MOG)associated disorders.This paper will focus on the application of OCT technology to this group of disorders in pediatrics.After reviewing pediatric-specific anatomic and practical issues pertinent to OCT,we will review knowledge related to the use of OCT in inflammatory pediatric optic neuropathies,with a focus on structural outcomes and their correlation with functional outcome metrics.
文摘Introduction: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a neuroregressive disorder associated with subacute encephalopathy, confusion, dysarthria, and dysphagia, as well as occasional external ophthalmoplegia or supranuclear facial nerve palsy. It may progress to severe rigidity, dystonia, and quadriparesis. Combination therapy of high-dose thiamine and biotin helps to control the symptoms and prevent progression of the disease. Methods: This retrospective, cross-sectional study was conducted at King Fahad Medical City in Riyadh, Saudi Arabia, to investigate the demographic, clinical features, treatment response, outcomes, and predictive factors of BTBGD in the pediatric population. Results: Twenty-five records of pediatric patients diagnosed with BTBGD were included in the study. The most common symptoms observed at presentation were ataxia in 13 patients (52%), followed by developmental regression in 11 patients (44%), and seizures in 7 patients (28%). Statistically significant associations were found between patient’s age of presentation, seizures at presentation, lactate level and their health outcomes. Multivariate logistic regression analysis revealed significant differences in patient outcomes (prognosis) based on their age at presentation, seizures, and lactate levels (p Conclusion: This study reported BTBGD in 25 pediatric patients in Saudi Arabia. Age at presentation, seizures, and lactate levels were found to be significantly associated with patient health outcomes. Increasing public awareness of the condition, particularly among parents and pediatricians, is imperative. Early diagnosis, along with timely management using biotin and thiamine supplementation, promotes improved health outcomes and prevents progressive neurodegeneration and death.
文摘Autism is a heterogeneous condition with a rising prevalence and demand for specialized care.Autistic children are more likely than neurotypical peers to experience co-occurring conditions(CCs),including medical,psychiatric,and behavioral issues,highlighting the urgent need for autism-competent healthcare providers in general healthcare.This review aims to equip primary care providers(PCPs)with a concise summary of common CCs and strategies for effective identification.A panel of experts with extensive experience in caring for autistic children collaboratively summarized key literature,research evidence,and existing clinical trial outcomes,supplementing their clinical expertise.Autistic children consistently show higher rates of both medical and mental health issues.Despite greater healthcare utilization,many autistic individuals report unmet needs.CCs can impair behavior,functioning,and well-being,but are often treatable when recognized early.Timely identification and management of medical and psychiatric CCs are critical for improving outcomes for autistic children and their families.This evidence-based review supports PCPs in enhancing their knowledge,fostering early recognition,and delivering comprehensive,responsive care.
文摘BACKGROUND Duchenne muscular dystrophy(DMD)is a neuromuscular disorder caused by mutations in the dystrophin gene.DMD is reported to coexist with other comorbidities,although the occurrence of the triad,autism spectrum disorder(ASD),and epilepsy is very rare.Indeed,only one case of the triad has currently been reported.Here,we present a detailed case report of a ten-year-old boy with DMD,ASD,and epilepsy.We also investigated the dysregulation of miRNAs in this unusual triad(represented as DMD++)compared with a healthy individual and a DMD patient(represented as DMD+)without autism.AIM To understand the differential expression of miRNAs in rare comorbid DMD cases.METHODS The Sequin Form Board test,Gesell's drawing test,multiplex ligation probe amplification,and Vineland Social Maturity Scale were applied to confirm the DMD and ASD.Total RNA was isolated from samples using TRIzol.cDNA was synthesized using the Mir-X^(TM)miRNA First-Strand Synthesis kit.qRT-PCR was performed using SYBR Advantage qPCR Premix.The results were statistically analyzed using one-way analysis of variance with Tukey's ttest.RESULTS miR-146a-5p and miR-132-5p showed significant downregulation in both patient samples.miR-199a-5p and miR-146a-3p showed no change in expression between the diseased and controls.miR-132-3p showed downregulation only in the DMD+sample(0.21±0.04).The decrease in miR-132-3p can result in failed silencing of the phosphatase and tensin homolog-mediated apoptotic pathway,leading to severe skeletal muscle atrophy.Here,the downregulation of miR-132-3p in DMD+is consistent with severe muscle loss and higher disease progression than that in DMD++.DMD++has slower disease progression,and the expression of miRNA involved in inflammatory and apoptotic responses is more similar to that of the control.CONCLUSION Our study shows marked difference in miRNA expression in this rare case of DMD with autism and epilepsy.These miRNAs also serve as regulators of several muscle regeneration,apoptosis,and inflammatory pathways.This study shows the significance of studying miRNAs in such rare cases in a larger cohort to progress in several intervention treatments utilizing miRNAs.
基金Supported by the Innovation Fund of Science and Technology Commission of Shenzhen Municipality,China,No.JCYJ-2015-0403100317071
文摘AIM To investigate whether patients with refractory epilepsy and healthy infants differ in gut microbiota(GM),and how ketogenic diet(KD)alters GM.METHODS A total of 14 epileptic and 30 healthy infants were recruited and seizure frequencies were recorded.Stool samples were collected for 16 S r DNA sequencing using the Illumina Miseq platform.The composition of GM in each sample was analyzed with MOTHUR,and intergroup comparison was conducted by R software.RESULTS After being on KD treatment for a week,64%of epileptic infants showed an obvious improvement,with a 50%decrease in seizure frequency.GM structure in epileptic infants(P1 group)differed dramatically from that in healthy infants(Health group).Proteobacteria,which had accumulated significantly in the P1 group,decreased dramatically after KD treatment(P2 group).Cronobacter predominated in the P1 group and remained at a low level both in the Health and P2 groups.Bacteroides increased significantly in the P2 group,in which Prevotella and Bifidobacterium also grew in numbers and kept increasing.CONCLUSION GM pattern in healthy infants differed dramatically from that of the epileptic group.KD could significantly modify symptoms of epilepsy and reshape the GM of epileptic infants.
文摘Duchenne and Becker muscular dystrophy(DMD/BMD) are X-linked muscular diseases responsible for over 80% of all muscular dystrophies. Cardiac disease is a common manifestation,not necessarily related to the degree of skeletal myopathy; it may be the predominant manifestation with or without any other evidence of muscular disease. Death is usually due to ventricular dysfunction,heart block or malignant arrhythmias. Not only DMD/BMD patients,but also female carriers may present cardiac involvement. Clinically overt heart failure in dystrophinopathies may be delayed or absent,due to relative physical inactivity. The commonest electrocardiographic findings include conduction defects,arrhythmias(supraventricular or ventricular),hypertrophy and evidence of myocardial necrosis. Echocardiography can assess a marked variability of left ventricular dysfunction,independently of age of onset or mutation groups. Cardiovascular magnetic resonance(CMR) has documented a pattern of epicardial fibrosis in both dystrophinopathies' patients and carriers that can be observed even if overt muscular disease is absent. Recently,new CMR techniques,such as postcontrast myocardial T1 mapping,have been used in Duchenne muscular dystrophy to detect diffuse myocardial fibrosis. A combined approach using clinical assessment and CMR evaluation may motivate early cardioprotective treatment in both patients and asymptomatic carriers and delay the development of serious cardiac complications.
文摘Echinococcosis or hydatid disease （HD） is a zoonosis caused by the larval stages of taeniid cestodes belong- ing to the genus Echinococcus. Hepatic echinococcosis is a life-threatening disease, mainly differentiated into alveolar and cystic forms, associated with Echinoc- cus multilocularis （E. multi/ocular/s） and Echinococcus granulosus （E. granulosus） infection, respectively. Cys- tic echinococcosis （CE） has a worldwide distribution, while hepatic alveolar echinococcosis （AE） is endemic in the Northern hemisphere, including North America and several Asian and European countries, like France, Germany and Austria. E. granulosus young cysts are spherical, unilocular vesicles, consisting of an internal germinal layer and an outer acellular layer. Cyst expansion is associated with a host immune reaction and the subsequent development of a fibrous layer, called the per/cyst; old cysts typically present internal septa- tions and daughter cysts. E. multilocularis has a tumor-like, infiltrative behavior, which is responsible for tissue destruction and finally for liver failure. The liver is the main site of HD involvement, for both alveolar and cystic hydatidosis. HD is usually asymptomatic for a long period of time, because cyst growth is commonly slow; the most frequent symptoms are fatigue and abdominal pain. Patients may also present jaundice, hepatomegaly or anaphylaxis, due to cyst leakage or rupture. HD diagnosis is usually accomplished with the combined use of ultrasonography and immunodiagnosis; furthermore, the improvement of surgical techniques, the introduction of minimally invasive treatments [such as puncture, aspiration, injection, re-aspiration （PAIR）] and more effective drugs （such as benzoimidazoles） have deeply changed life expectancy and quality of life of patients with HD. The aim of this article is to provide an up-to-date review of biological, diagnostic, clinical and therapeutic aspects of hepatic echinococcosis.
基金supported by a grant from Clinical Scientific Research of Wuhan Sanitary Bureau(No.WX11C26)research fund from Janssen Research Council of China(No.JRCC2011-01)
文摘Previous studies have demonstrated a strong association between carbamazepine（CBZ）-induced Stevens-Johnson syndrome（SJS） and HLA-B 1502 in Han Chinese. Here, we extended the study of HLA-B 1502 susceptibility to two different antiepileptic drugs, oxcarbazepine（OXC） and phenobabital（PB）. In addition, we genotyped HLA-B 1511 in a case of CBZ-induced SJS with genotype negative for HLA-B 1502. The presence of HLA-B 1502 was determined using polymerase chain reaction with sequence-specific primers（PCR-SSP）. Moreover, we genotyped HLA-B 1502 in 17 cases of antiepileptic drugs（AEDs）-induced cutaneous adverse drug reactions（cADRs）, in comparison with AEDs-tolerant（n=32） and normal controls（n=38） in the central region of China. The data showed that HLA-B 1502 was positive in 5 of 6 cases of AEDs-induced SJS（4 CBZ, 1 OXC and 1 PB）, which was significantly more frequent than AEDs-tolerant（2/32, 18 CBZ, 6 PB and 8 OXC） and normal controls（3/38）. Compared with AEDs-tolerant and normal controls, the OR for patients carrying the HLA-B 1502 with AEDs-induced SJS was 6.25（95% CI： 1.06–36.74） and 4.86（95% CI： 1.01–23.47）. The sensitivity and specificity of HLA-B 1502 for prediction of AEDs-induced SJS were 71.4%. The sensitivity and specificity of HLA-B 1502 for prediction of CBZ-induced SJS were 60% and 94%. HLA-B 1502 was not found in 11 children with maculopapular exanthema（MPE）（n=9） and hypersensitivity syndrome（HSS）（n=2）. However, we also found one case of CBZ-induced SJS who was negative for HLA-B 1502 but carried HLA-B 1511. It was suggested that the association between the CBZ-induced SJS and HLA-B 1502 allele in Han Chinese children can extend to other aromatic AEDs including OXC and PB related SJS. HLA-B 1511 may be a risk factor for some patients with CBZ-induced SJS negative for HLA-B 1502.
文摘Sleep disturbances are common in childhood and adolescence. Sleep problems in early infants tend to be persistent and prominent in preschool and school-aged children. Chronic sleep disorders, especially in young children may lead to neurobehavioral problems and psycho-cognitive impairment. Sleep difficulties may be the result of underlying medical conditions, （breathing disorders） or psychological problems. Research studies have shown the association between sleep disorders and day time cognitive impairment, behavioral problems, poor school performance and inattention in children. Appropriate diagnosis and early management of sleep disorders in children lead to improvement of neurocognitive function and behavioral problems in these children.
文摘AIM： To evaluate the clinical presentation, response to prophylactic therapy and outcome of children with cyclic vomiting syndrome （CVS） in Shiraz, Iran. METHODS： During a period of 11 years （March 1994 to March 2005）, 181 consecutive children with a final diagnosis of CVS were evaluated, treated and followed in our center. Patients were randomized to receive either amitriptyline or propranolol as prophylactic treatments. RESULTS： There were 88 boys and 93 girls with mean age of onset of symptoms of 4.9 ± 3.3 years （range, neonatal period to 14 years）, the mean age at final diagnosis was 6.9 years （range, 1.5 to 14）, and the mean duration between the onset of the first attack and the final diagnosis of CVS was 2 ± 1.81 years （range, 1/6 to 8）. The mean duration of each attack was 4.26 days （range, from few hours to 10 d） and the mean interval between the attacks was 1.8 mo （range, 1 wk to 12 too）. The time of onset of the attacks was midnight to early morning in about 70% of cases. Amitriptyline was effective in 46 out of 81 （56%） patients （P 〈 0.001）. Propranolol appeared to have a superior action and was effective in 74 out of 83 （92%） patients （P 〈 0.0001）. CONCLUSION： There is a significant lag time between the onset of clinical symptoms and the final diagnosis of CVS in our area. In patients with typical clinical presentations of CVS, who are examined by an experienced physician, invasive workup is not necessary. Propranolol appears more effective than arnitriptyline for prophylactic use in children with CVS.
基金The Science Fund of Health Bureau of Tianjin,No.2013KZ046
文摘Extensive lesions involving the posterior quadrant of the cerebral hemisphere （temporal, parietal, and occipital lobes） induce intractable epilepsy. These patients are potential candidates for surgical treatmenttu. Maintenance of isolated nerve tissue activity after surgery plays a crucial role in the neuroprotective effects of neurosurgery treatment. Disconnection surgery of the posterior quadrant is used to completely isolate nerve fibers, while blood supply at the isolated lobes is maintained. Subsequently, cavities caused by cystic or necrotic nerve tissues should be reduced as much as possible,
文摘Voltage gated calcium channel(VGCC) antibodies are generally associated with Lambert-Eaton myasthenic syndrome. However the presence of this antibody has been associated with paraneoplastic as well as nonparaneoplastic cerebellar degeneration. Most patients with VGCC-antibody-positivity have small cell lung cancer(SCLC). Lambert-Eaton myasthenic syndrome(LEMS)is an autoimmune disease of the presynaptic part of the neuromuscular junction. Its classical clinical triadis proximal muscle weakness, areflexia and autonomic dysfunction. Fifty to sixty percent of LEMS patients have a neoplasia, usually SCLC. The co-occurrence of SCLC and LEMS causes more severe and progressive disease and shorter survival than non-paraneoplastic LEMS. Treatment includes 3,4 diaminopyridine for symptomatic purposes and immunotherapy with prednisolone, azathioprine or intravenous immunoglobulin in patients unresponsive to 3,4 diaminopyridine. Paraneoplastic cerebellar degeneration(PCD) is a syndrome characterized with severe, subacute pancerebellar dysfunction. Serum is positive for VGCC antibody in 41%-44% of patients, usually with the co-occurrence of SCLC. Clinical and electrophysiological features of LEMS are also present in 20%-40% of these patients. Unfortunately, PCD symptoms do not improve with immunotherapy. The role of VGCC antibody in the immunopathogenesis of LEMS is well known whereas its role in PCD is still unclear. All patients presenting with LEMS or PCD must be investigated for SCLC.
基金the King Salman center For Disability Research for funding this work through Research Group no KSRG‑2024–307。
文摘Background Hydrocephalus following intracerebral hemorrhage(ICH)is a common yet treatable complication.Despite its clinical signifcance,the long‑term outcomes and predictive factors associated with hydrocephalus are not well understood,especially in pediatric population with epilepsy.This study aims to investigate the impact of hydrocephalus on children with epilepsy in Saudi Arabia.Methods This observational retrospective study was conducted at the pediatric neurology clinic of a tertiary care epilepsy center.Twenty‑six patients diagnosed with comorbid hydrocephalus and epilepsy were included.Key vari‑ables analyzed included seizure characteristics,age at seizure onset,use of antiseizure medications,seizure control,long‑term developmental outcomes(intellectual and motor),the timing of shunt insertion in relation to seizure onset,and focal EEG changes.Results Among the 26 patients,61.5%(n=16)were males.A notable proportion,57.7%(n=15),exhibited normal electroencephalogram(EEG)results,while 42.3%(n=11)presented with abnormal EEG patterns.Of the 26 patients,38.4%(n=10)had congenital hydrocephalus,while 61.6%(n=16)had acquired hydrocephalus.Seizure frequency varied:38.5%(n=10)experienced only once seizure,11.5%(n=3)had one to four seizures per month and 3.8%(n=1)encountered two to four seizures per day.The majority of hydrocephalus cases(61.5%,n=16)were diagnosed during infancy to two years of age.Shunt insertion was prevalent,with 80.7%(n=21)undergoing the procedure.Developmental delays were observed in 61.5%(n=16)of the patients.Conclusions This study highlights the important role of hydrocephalus in the context of epilepsy among children in Saudi Arabia.Further research with larger sample size is needed to confrm these fndings and provide a basis for improved understanding and targeted interventions in this critical medical area.
文摘BACKGROUND Anti-D antibody is not the common cause of Rh-isoimmunization in Chinese neonatal jaundice.Recent change in national population policy has followed by an increase in Rh-isoimmunization related hemolytic disease of the newborn(HDN).Unfortunately,regional status of Rh-HDN is unavailable.We hypothesize that Rh-HDN in our region is most commonly due to anti-E antibody.AIM To investigate the prevalence of hemolytic disease of the newborn due to Rhisoimmunization in Hefei City.METHODS Retrospective review of data obtained from Children’s Hospital of Anhui and Hefei Blood Center between January 2017 and June 2019.Status of minor blood group antibody was studied in the corresponding mothers.RESULTS Totally 4138 newborns with HDN admitted during the study period and 116(2.8%)received blood exchange transfusion(BET).Eighteen newborns(0.43%)with proven Rh-incompatible HDN were identified.All were not the first-born baby.Thirteen mothers were RhD(+)(72%)and five were RhD(-).The distribution of Rh-related antibodies in mothers was ten anti-E(55%),five anti-D(27%),and for one anti-C,anti-c,and anti-E/c(6%)each.Thirteen(72.2%)were qualified for BET,relative risk for BET was 28.9 as compared to other types of HDN,but only 10 received due to parenteral refusal.All(100%)RhD related HDN received BET which is not significantly different from RhE related HDN(81.8%).CONCLUSION As expected,all Rh-incompatible HDN newborns were not the first-born.Contrary to the Caucasian population,anti-D induced HDN is not the most common etiology.In our region,anti-E(11/18,61%)is the most common cause of Rh-HDN.
基金Supported by Liaoning Provincial Department of Education Scientific Research Project,No.QNZR2020012Henan Neural Development Engineering Research Center for Children Foundation,No.SG201905and the National Key Research and Development Program of China,No.2016YFC1306203.
文摘BACKGROUND Since the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)epidemic,numerous studies have been published on SARS-CoV-2-related encephalitis/meningitis,but it has not been established if there are specific clinical characteristics of encephalitis/meningitis associated with SARS-CoV-2 infection.AIM To identify the specific clinical features of cases of encephalitis/meningitis associated with SARS-CoV-2 infection in the context of this virus infection pandemic and investigate their relationship with SARS-CoV-2 infection.METHODS We searched PubMed,and included single case reports and case series with full text in English,reporting original data of coronavirus disease-19(COVID-19)patients with encephalitis/meningitis and a confirmed recent SARS-CoV-2 infection.Clinical data were extracted.RESULTS We identified 22 articles(18 single case reports and 4 case series)reporting on a total of 32 encephalitis/meningitis patients with confirmed SARS-CoV-2 infection.SARS-CoV-2 infection was confirmed through reverse transcriptase-polymerasechain-reaction(RT-PCR)in 96.88%of cases.A total of 22(68.75%)patients had symptoms of SARS-CoV-2 infection in about 1 wk(7.91 d)preceding the onset of neurologic symptoms.The most common neurological symptoms were consciousness disturbance(59.38%),seizure(21.88%),delirium(18.75%),and headache(18.75%).Four cases were confirmed by positive RT-PCR results in cerebrospinal fluid(CSF),one was confirmed by positive RT-PCR results in postoperative brain tissue,and one by the presence of SARS-CoV-2 antibodies in CSF.The mainly damaged targets identified by neuroimaging included the temporal lobe(15.63%),white matter(12.5%),frontal lobe(9.38%),corpus callosum(9.38%),and cervical spinal cord(9.38%).Eighty percent of patients had electroencephalograms that showed a diffuse slow wave.Twenty-eight(87.5%)patients were administered with specific treatment.The majority(65.63%)of patients improved following systemic therapy.CONCLUSION Encephalitis/meningitis is the common neurological complication in patients with COVID-19.The appropriate use of definitions and exclusion of potential similar diseases are important to reduce over-diagnosis of SARS-CoV-2 associated encephalitis or meningitis.
