Fournier’s Gangrene in a Child Hospitalised in the Paediatric Emergency Department of the Gabriel Touré Teaching Hospital

Fournier’s gangrene is a form of necrotizing fasciitis that has multiple causes and is relatively uncommon in children. We report a case of Fournier’s gangrene of infectious origin in a 12-month-old infant following an insect bite. A rapid diagnosis and multidisciplinary care saved the patient.

Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital

Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein that binds zinc. We report a case in a 7-month-old girl, admitted with altered general condition and scaly, pustular erythematous lesions, initially located in the occipital and cervical regions, and secondarily inguinal and on the knees. Management and outcome in this patient? Genetic assay was not available to confirm this rare genetic disease. A delay in establishing the diagnosis and a disastrous outcome did not save the patient despite the administration of zinc.

Genetic risk stratification of inflammatory bowel disease-associated venous thromboembolism:An Asian perspective

The utilisation of polygenic scoring models may enhance the clinician’s ability to risk stratify an inflammatory bowel disease patient’s individual risk for venous thromboembolism(VTE)and guide the appropriate usage of VTE thromboprophylaxis,yet there is a need to validate such models in ethnically diverse populations.

Spousal Involvement in the Workplace of Doctors: What Is Defined as Appropriate or Inappropriate

Background: Workers spend a significant amount of time in the workspace. Involvement of a spouse in a doctor’s workplace can take different forms and come with different intentions. Objectives: The survey aimed to determine the prevalence and extent of spousal involvement in physicians’ workplaces as well as the outcome of such involvement on doctor’ swell-being, productivity, and relationship with colleagues. Methods: This cross-sectional online survey on spousal involvement in the workplace of doctors was conducted among 83 responding doctors from July to August 2023. Results: Among the respondents, 60 (72.3%) had witnessed a doctor’s spouse being involved in the workplace. The most common reason for spousal involvement in the workplace was to protect the spouse from what they perceived as a threat 34 (54.0%). Spouse’s ignorance of boundaries in the workplace (OR: 6.09 (95% CI: 1.70, 21.79) P: 0.003) and exertion of control by the spouse (OR: 11.2 (95% CI: 2.26, 56.41) P: 0.002) were significantly associated with higher odds of inappropriate spousal involvement in the workplace, while expression of love for spouse with acts of kindness was significantly associated with a lowered odd of inappropriate spousal involvement (OR: 0.11 (95% CI: 0.03, 0.36) P: 0.0001). Conclusion: Spousal involvement in the workplace is relatively common. Ignorance of the boundaries of the workplace and exertion of control by the spouse were significant enablers of inappropriate spousal involvement in the workplace of doctors. The establishment of workplace policies that define the limits of spousal involvement in the doctor’s workplace can foster a healthy workspace environment, enhance doctors’ well-being, and improve patient care.

‘Prediabetes’ as a practical distinctive window for workable fruitful wonders: Prevention and progression alert as advanced professionalism

Diabetes is a devastating public health problem.Prediabetes is an intermediate stage in the disease processes leading to diabetes,including types 1 and 2 diabetes.In the article“Prediabetes in children and adolescents:An updated review,”the authors presented current evidence.We simplify and systematically clearly present the evidence and rationale for a conceptual framework we term the‘3ASs’:(1)Awareness Sensible;(2)Algorithm Simple;and(3)Appealing Strategies.Policy makers and the public need to be alerted.The prevalence of prediabetes should send alarm bells ringing for parents,individuals,clinicians,and policy makers.Prediabetes is defined by the following criteria:impaired fasting glucose(100-125 mg/dL);impaired glucose tolerance(2 h postprandial glucose 140-199 mg/dL);or hemoglobin A1c values of 5.7%–6.4%.Any of the above positive test alerts for intervention.Clinical guidelines do not recommend prioritizing one test over the others for evaluation.Decisions should be made on the strengths and shortfalls of each test.Patient preferences and test accessibility should be taken into consideration.An algorithm based on age,physiological stage,health status,and risk factors is provided.Primordial prevention targeting populations aims to eliminate risk factors through public education and encouraging practices through environmental modifications.Access to healthy foods is provided.Primary prevention is for individuals with a prediabetes diagnosis and involves a structured program to reduce body weight and increase physical activity along with a healthy diet.An overall methodical move to a healthy lifestyle for lifelong health is urgently needed.Early energetic prediabetes action is necessary.

Audit of Neonatal Jaundice as Experienced at a Mission Hospital in Western Nigeria

Introduction: Neonatal jaundice (NNJ) is a common disorder in neonates that can impact negatively on the brain and cause death. The peculiarities in aetiology and solutions for different settings are a knowledge gap. This informed the desire to determine local aetiology and solutions for neonatal jaundice in a missionary hospital in Abeokuta, Southwestern Nigeria. Methods: Consecutive consenting babies diagnosed with significant neonatal jaundice were studied between July 2016 and June 2019. Institutional ethical consent was obtained. A proforma was used to obtain socio-demographic data and other relevant information such as age, sex, birthweight, gestational age and history regarding the jaundice. All the information obtained was inputted into a computer and analysed with SPSS version 16. Results: A total of 179 babies with neonatal jaundice comprising of 120 (67.0%) boys and 59 (33.0%) girls with ages ranging between 1 and 12 days (mean 2.7 ± 2.9) were studied. Prematurity, ABO incompatibility, neonatal sepsis and glucose-6-phosphate enzyme deficiency accounted for over 80% of the causes of significant NNJ. Sixty (33.5%) of the 179 babies studied developed acute bilirubin encephalopathy and 11 (6.1%) mortalities were recorded. Higher proportions of babies that were out-born with spontaneous vaginal delivery modes had acute bilirubin encephalopathy (p < 0.05). Mothers with formal education had better outcome compared to mothers without, in terms of mortalities (p < 0.05). Conclusion: Neonatal jaundice is still a significant cause of morbidity and mortality in the neonatal age group. Maternal education is key to good outcome in neonatal jaundice.

Epidemiological Aspects of Stillbirth and Neonatal Deaths in the Delivery Room at the Libreville Mother-Child University Hospital from 2019 to 2022

Introduction: Stillbirths are estimated at 2 million each year, of which more than 40% occur during labour. Our objective was to study the epidemiological aspects of stillbirth and neonatal deaths in the delivery room in our health facility. Patients and methods: Prospective, descriptive and analytical study, conducted at the Jeanne Ebori Foundation Mother-Child University Hospital over 4 years (January 2019-December 2022). All neonatal deaths in the delivery room or foetal death in utero, were included. Results: Among the 18,346 deliveries performed, 512 newborns were declared dead in the delivery room (27.9‰ live births), divided into in utero foetal death (19.0‰) and immediate neonatal death (8.9‰). The mean age was 34.3 weeks of amenorrhea. The rate of preterm birth was 60.4%. The sex ratio was 1.1. The average weight was 2186.6. The main causes were vascular (46.1%), foetal (20.2%), adnexal (17.1%) and asphyxia per partum (16.6%). Foetal causes were more likely to result in IUFD than other causes (OR = 6.4 [2.4 - 15.7], p < 0.001). After birth, partum asphyxia was more likely to lead to death before 15 minutes of life than other causes (OR = 11 [6.1 - 18.9], p Conclusion: The causes of stillbirth and early neonatal mortality are dominated by maternal vascular pathologies. However, the proportion of childbirth-related causes remains worrying. Better monitoring of pregnancy and labour will minimize this prevalence in our hospital.

Predictors and Complications of Prematurity in Two Health Facilities in Fako Division, Southwest Region, Cameroon

Background: Prematurity is the leading cause of neonatal mortality. Most preterm births can be associated to an identifiable risk factor. In Cameroon, especially in the Southwest Region, there is limited data regarding prematurity associated risk factors. The aim of this study was to evaluate the risk factors and complications of prematurity in two health facilities in the Fako division, the BRH and RHL. Methods: A hospital based retrospective case control study was done from the 1st of January 2021 to 28th of February 2022. We assessed the gestational ages at which preterm birth occurred and their short-term outcome using a structured pretested questionnaire to collect data from files. Data was analyzed using Statistical Package for Social Sciences (SPSS) version 26. Results: The minimum sample size was 137 preterms. 45.5% of cases were born between 34 and increased the risk of having a preterm birth meanwhile being married (AOR: 0.410;95% CI: 0.217 - 0.773;p = 0.006) decreased the risk. Hospital complications were neonatal infection 103 (51.5%), respiratory distress 79 (39.5%) and neonatal jaundice 61 (30.50%). Among the cases, 97 (48.50%) stayed in the hospital for 2 to 4 weeks and 177 (88.5%) were discharged alive. Conclusions: Modifiable factors that increased the risk of prematurity were advanced maternal age, secondary level of education, rural residence, and prenatal alcohol consumption. Being married decreased the risk. The most common hospital complications in both the cases and controls were neonatal infection, respiratory distress syndrome and neonatal jaundice.

Determinants and Outcomes of Pregnancies among Booked versus Unbooked Patients in a Tertiary Hospital South East, Nigeria

Background: Inadequate antenatal care, both in coverage and standard, has been linked with poor pregnancy outcomes. In a resource poor setting, home delivery is considered very cheap, but the possible outcome of such pregnancies has been a subject of interest. This study evaluated the association of booking status with pregnancy outcomes. Objectives: To examine the factors that influence booking and impact of the booking status on pregnancy outcomes. Methods: This was a hospital-based prospective cohort study of 240 (120 booked and 120 un-booked) pregnant mothers selected through systematic random sampling. The study was carried out at the Department of Obstetrics and Gynaecology, Alex Ekwueme Federal University Teaching Hospital Abakaliki, Nigeria. Chi-square test, t-test and logistic regression were used for analysis. Results: The mean age of the participants was 30.39 ± 5.05 years and 29.05 ± 6.36 years respectively for the booked and unbooked. Marital status (OR = 6.35, 95% CI = 1.24 - 32.59), educational status (OR = 36.40, 95% CI = 5.26-152.83), place of residence (OR = 0.15, 95% CI = 0.06 - 0.41), partner’s support (OR = 0.05, 95% CI = 0.01 - 0.37), family support (OR = 0.03, 95% CI = 0.01 - 0.13), mode of delivery (OR = 0.23, 95% CI = 0.12 - 0.46), APGAR score in first minute (OR = 6.02, 95% CI = 2.45 - 14.83) and NBICU admission (OR = 3.75, 95% CI = 1.67 - 8.43) were associated with booked status. However, being unmarried, nulliparity/grandmultiparity, low level of education, blue colar jobs, low income, rural dwelling and poor partner and poor family support were associated with the unbooked. The booked parturients had a better perinatal outcome compared the unbooked. Conclusion/Recommendation: There was high prevalence of operative deliveries, perinatal morbidity and mortality among the unbooked mothers. Girl child education, employment and poverty alleviation would improve antenatal care utilization.

Epidemiological, Clinical Progress Aspects of Congenital Heart Disease with Neonatal Revelation at the Mother-Child Hospital of Bingerville (HME) Concerning 98 Cases from January 2021 to December 2022 (Côte d’Ivoire)

Introduction The distribution of congenital heart disease (CHD) in sub-Saharan Africa is highly imprecise and varies from one region to another due to the inequality of diagnostic facilities. The aim of this study was to determine the in-hospital prevalence of congenital heart disease in children at the Mother-Child hospital of Bingerville (HME) by specifying the diagnostic, therapeutic and evolutionary aspects. Materials and methods We conducted a retrospective, descriptive, cross-sectional study at HME of Bingerville from January 2021 to December 2022. All newborns with congenital heart disease confirmed by echocardiography were included in the study. Results Of 656 admissions to the neonatology department over the study period, congenital heart disease accounted for 14.9% (98/656) of cases. In our series, 76.7% were diagnosed before the 1st week of life, with a mean chronological age of 5.18 days and extremes of 0 and 46 days. There were as many male patients (50%) as female (50%), i.e. a sex ratio of 1. These newborns were premature in 60.2% of cases, with a mean and median gestational age of 34 weeks’ amenorrhea. Most were left-right shunts (90.8%). Persistent ductus arteriosus (PDA) (48.9%) predominated, followed by atrial septal defect (38.7%), ventricular septal defect (13.3%), common trunk artery (CTA) (3.1%) and open septal pulmonary atresia (OSPA) (1%) as the primary cyanogenic heart disease. Pulmonary arterial hypertension (PAH) (50%) was primary in 38.8% and secondary (61.2%). The mortality rate was 30.6%, and all CTA patients died (100%), with a significant statistical relationship (p = 0.027). Progression under treatment was marked by clinical stabilization (68/98) in 69.4% of cases. Conclusion: Congenital heart disease is relatively common at the Bingerville HME. Access to echocardiography should be facilitated in neonatology departments for rapid diagnosis and optimal management of congenital heart disease in newborns.

Epidemiological and Clinical Profile and Immediate Outcome of Neonates Transferred from the Maternity Unit to the Neonatology Unit of the CSREF in Commune V of Bamako District, Mali

Introduction: Neonatal mortality remains a major public health concern. According to the World Health Organisation (WHO), the number of newborns dying each year has fallen from 5 million in 1990 to 2.4 million in 2019. The aim of our study was to describe the main morbid conditions and their lethality in newborns admitted to the paediatric ward of the CSREF in Commune V. Methodology: We conducted a 12-month prospective descriptive and analytical study from August 2020 to July 2021. Results: During the 12 months of the study, out of 2654 neonates admitted to hospital, 216 met our inclusion criteria, i.e. 8%. Newborns admitted in the first few hours of life represented 99.54% of cases. Full-term newborns accounted for 65.74% of the total. Forty-eight percent of newborns had hypothermia on admission. The most common diagnosis was asphyxia in 55.56% of cases, followed by neonatal infection in 27.78% and prematurity in 10.65%. Death was recorded in 22.2% of cases. Asphyxia was the main cause of neonatal death, followed by prematurity in our context. Conclusion: Improving the prognosis of newborn babies will require a thorough understanding of neonatal pathologies and the implementation of a pre- and perinatal prevention policy.

Precision medicine in inflammatory bowel disease:Individualizing the use of biologics and small molecule therapies

The advent of biologics and small molecules in inflammatory bowel disease(IBD)has marked a significant turning point in the prognosis of IBD,decreasing the rates of corticosteroid dependence,hospitalizations and improving overall quality of life.The introduction of biosimilars has also increased affordability and enhanced access to these otherwise costly targeted therapies.Biologics do not yet represent a complete panacea:A subset of patients do not respond to first-line anti-tumor necrosis factor(TNF)-alpha agents or may subsequently demonstrate a secondary loss of response.Patients who fail to respond to anti-TNF agents typically have a poorer response rate to second-line biologics.It is uncertain which patient would benefit from a different sequencing of biologics or even a combination of biologic agents.The introduction of newer classes of biologics and small molecules may provide alternative therapeutic targets for patients with refractory disease.This review examines the therapeutic ceiling in current treatment strategies of IBD and the potential paradigm shifts in the future.

Utilization of accident and emergency department at a semi-urban Nigerian hospital: a preliminary prospective study

Objective: To assess emergency department utilization at a semi-urban (resource-limited) Nigerian hospital. Methods: A systematic random sampling technique was adopted. A proforma was used to obtain general information such as age, gender, mode of transfer, time of presentation, symptom duration, diagnoses, treatment duration, treatment outcome (transfer to the ward, referral to another hospital, discharge or death) and date and time of discharge. Chi-square test and logistic regression analysis were used to determine the association of variables with mortality and predictors, respectively. Results: Patients were predominantly male (62.2%) with a mean age of (36.0±19.0) years. Most visits occurred in September (49.1%). The median symptom duration was 24 h (interquartile range: 4.0, 72.0 ). More incidences were caused by non-surgical (61.9%) than surgical reasons. Infectious diseases (predominantly malaria, 34.5%) and injuries from road traffic accidents (mostly head injuries, 9.4%) were the commonest non-surgical and surgical cause, respectively. The mortality rate was 9.2%. Typhoid-intestinal-perforation and sepsis contributed 45.2% of overall mortality. Age (x2=16.44, P<0.001), symptom duration (x2=22.57, P<0.001), and visiting month (Fishers exact, P=0.002) were associated with mortality. Moreover, age ( 37 years) (OR=4.60, 95%CI=1.96-10.82, P<0.001) and visiting in September/October (OR=4.01, 95%CI=1.47-10.93, P=0.007) were the predictors of mortality. Conclusions: Though most patients in emergency department survive, the mortality is still high. Appropriate hospital and community interventions should be implemented to reduce mortality.

Emerging role of computed tomography coronary angiography in evaluation of children with Kawasaki disease

Coronary artery abnormalities are the most important complications in children with Kawasaki disease(KD).Two-dimensional transthoracic echocardiography currently is the standard of care for initial evaluation and follow-up of children with KD.However,it has inherent limitations with regard to evaluation of mid and distal coronary arteries and,left circumflex artery and the poor acoustic window in older children often makes evaluation difficult in this age group.Catheter angiography(CA)is invasive,has high radiation exposure and fails to demonstrate abnormalities beyond lumen.The limitations of echocardiography and CA necessitate the use of an imaging modality that overcomes these problems.In recent years advances in computed tomography technology have enabled explicit evaluation of coronary arteries along their entire course including major branches with optimal and acceptable radiation exposure in children.Computed tomography coronary angiography(CTCA)can be performed during acute as well as convalescent phases of KD.It is likely that CTCA may soon be considered the reference standard imaging modality for evaluation of coronary arteries in children with KD.

Paediatric-appropriate facilities in emergencydepartments of community hospitals in Ontario：A cross-sectional study

BACKGROUND: We assessed whether the paediatric-appropriate facilities were available at Emergency Departments(ED) in community hospitals in a Canadian province.METHODS: We conducted a cross-sectional survey of EDs in community hospitals in Ontario, Canada that had inpatient paediatric facilities and a neonatal intensive care unit. Key informants were ED chiefs, clinical educators, or managers. The survey included questions about paediatric facilities related to environment, triage, training, and staff in EDs.RESULTS: Of 52 hospitals, 69%(n=36) responded to our survey. Of them, 14% EDs(n=5) had some separated spaces available for paediatric patients. About 53%(n=19) of EDs lacked children activities, e.g., toys. Only 11%(n=4) EDs were using paediatric triage scales and 42%(n=15) had a designated paediatric resuscitation bay. Only half of the ED(n=18) required from their staff to update paediatric life support training. Only 31%(n=11) had a designated liaison paediatrician for the ED. Paediatric social worker was present in only 8%(n=3) of EDs in community hospitals.CONCLUSION: Most of the Ontario community hospital EDs included in this survey had inadequate facilities for paediatric patients such as specific waiting and treatment areas.

Tuberculosis in Children: Epidemio-Clinical Aspects in the Paediatric Department of the Gabriel TouréUniversity Hospital Center

Introduction: Globally, tuberculosis is the leading cause of death from a single infectious agent ahead of HIV/AIDS. Approximately 10 million people contracted TB in 2017, 10% of whom were children aged 0 - 15 years, or about 1 million with 250,000 deaths in 2016 (including children with HIV-associated TB). The signs of TB in children are not always specific and diagnosis remains difficult unlike in adults. According to a study conducted in 2011 in the paediatric department of the CHU-Gabriel Touré, only seventeen cases of all forms of tuberculosis were found, or approximately 0.2% of hospitalised children. The objective of our study was to investigate the epidemiological and clinical aspects of tuberculosis in children. Materials and Method: This was a prospective, cross-sectional and descriptive study that took place from 24 October 2017 to 23 October 2018, or 12 months in children aged 0-15 years. Data were collected from an individual medical record opened for each patient and an individual survey form established for each child. Results: During the study period, 40,434 children were consulted. Tuberculosis was suspected in 91 children, with a frequency of 0.22%. The age range of 1 to 4 years was 36.3% with a median age of 72 months. The sex ratio was 1.8. Chronic cough with 84.6% and malnutrition with 24.17% were the most frequent symptoms. Chest X-ray revealed bilateral pulmonary lesions in 52.7% and mediastinal adenopathy in 12.1%. TST was positive in 10.9% of patients, microscopy in 26.4%, Gene Xpert in 18.7%, and culture in 16.5%. The biological diagnosis of tuberculosis was retained in 48.4% of the patients, the pulmonary form represented 93.2%. The therapeutic regime (2RHZE/4RH) was used in 81.6% of cases and the evolution was favourable in 65.9% of patients. Conclusion: The diagnosis of tuberculosis in children remains difficult in our context. The clinical signs are not always specific, and further studies are needed to further elucidate this disease.

Diagnosis of an intermediate case of maple syrup urine disease:A case report

BACKGROUND Maple syrup urine disease(MSUD)is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids(BCAAs).However,the clinical and metabolic screening is limited in identifying all MSUD patients,especially those patients with mild phenotypes or are asymptomatic.This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis.CASE SUMMARY This study reports the diagnostic process of a boy with intermediate MSUD.The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age.Preliminary clinical and metabolic profiling did not support a specific disease.However,whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene,confirming the proband as having MSUD with non-classic mild phenotypes.His clinical and laboratory data were retrospectively analyzed.According to his disease course,he was classified into an intermediate form of MSUD.His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD.In addition,genetic counseling and prenatal diagnosis were provided to his parents.CONCLUSION Our work provides diagnostic experience of an intermediate MSUD case,suggesting that a genetic analysis is important for ambiguous cases,and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.

Ten-year review of trends in children with type 1 diabetes in England and Wales

This review describes the prevalence,incidence,and demographics of children and young people(CYP)with type 1 diabetes in England and Wales using data from the United Kingdom National Paediatric Diabetes Audit(NPDA)and has almost 100%submission from all paediatric diabetes centres annually.It is a powerful benchmarking tool and is an essential part of a long-term quality improvement programme for CYP with diabetes.Clinical characteristics of this population by age,insulin regimen,complication rates,health inequalities,access to diabetes technology,socioeconomic deprivation and glycaemic outcomes over the past decade is described in the review.The NPDA for England and Wales is commissioned by the United Kingdom Healthcare Quality Improvement Partnership as part of the National Clinical Audit for the United Kingdom National Service Framework for Diabetes.The rising incidence of Type 1 diabetes is evidenced in the past decade.Reduction in national median glycated hemoglobin for CYP with diabetes is observed over the last 10 years and the improvement sustained by various initiatives and quality improvement programmes implemented with universal health coverage.

“I Dread the Heart Surgery but it Keeps My Child Alive”—Experiences of Parents of Children with Right Ventricular Outflow Tract Anomalies during the Assessment for Cardiac Reoperation

Background:Parents of children with complex right ventricular outflow tract(RVOT)anomalies are confronted with their child’s need for heart surgery early in life and repeated reoperations later on.Preoperative assessment needs to be performed whenever an indication for reoperation is suspected.The aim was to illuminate the experiences of parents of children diagnosed with RVOT anomalies,in particular,how they experience their child’s heart disease and everyday life during the assessment and after the decision on whether to perform a reoperation.Method:Individual interviews(n=27)were conducted with nine parents on three occasions between 2014 and 2016 and analyzed using reflexive thematic analysis.Results:The analysis resulted in the following five main coexisting themes:The heart surgery keeps my child alive illuminates parents’experiences during and after the assessment and emphasizes that heart surgery,although dreaded,is central for their child’s survival;Everyday struggles illuminates the different struggles parents had to face to ensure that their child would be in the best possible condition;the remaining three themes,Unconditional love,Trust in life,and Togetherness,illuminate the ways in which the parents gained inner strength and confidence in their everyday lives.Conclusion:Although the parents were grateful for the assessment and had learned to navigate among the fears it aroused,they experienced several distressing situations during the assessment process that should be addressed.By inviting both the parents and their child to participate in the child’s care,individualized support can take into account the needs of both parents and child.

Utility of droplet digital polymerase chain reaction for studying somatic mosaicism:brain malformations and beyond

Somatic variants and how to find them:One major challenge in studying somatic mosaicism is the low abundance of potentially pathogenic somatic variant(s).Unlike inherited germline variants,which are essentially present in all cells,pathogenic somatic variants only exist in a subset of cells and may be present at very low (<1%)variant allele frequency (VAF).Despite the low VAF,these somatic variants are disease-relevant and considered pathogenic.In the context of focal brain malformations,which constitute a frequent cause of drug-resistant focal epilepsy,a pathogenic somatic mammalian ta rget of rapamycin (MTOR)variant with a VAF of 0.3%has been described(Baldassari et al.,2019).The identification of pathogenic somatic variants has importa nt implications both clinically and biologically.