Long-term Follow-up Of Children Research Articles

Management and Long-Term Outcomes of Drug Reaction with Eosinophilia and Systemic Symptoms (DReSS) in Children: A Scoping Review.

Drug reaction with eosinophilia and systemic symptoms (DReSS) is known to cause mortality and long-term sequelae in the pediatric population, however there are no established clinical practice guidelines for the management of pediatric DReSS. We conducted a scoping review, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, to summarize the currently available data on treatment, mortality, and long-term sequelae of DReSS in children (aged 0-18 years). Data from 644 individuals revealed that various treatment strategies are being used in the management of pediatric DReSS, and strategies were often used in combination. The diversity in treatment approaches cannot be solely attributed to age or disease severity and reflects the lack of evidence-based management guidelines for DReSS. Children are also at risk of developing autoimmune sequelae following DReSS, most commonly thyroid disease and type 1 diabetes mellitus. We found that the eventual development of autoimmune disease was more often associated with DReSS caused by antibiotics, especially minocycline and sulfamethoxazole, in comparison with individuals who did not develop sequelae. In this study, we identify strengths and weaknesses in the currently available literature and highlight that future prospective studies with structured and long-term follow-up of children with DReSS are needed to better understand potential risk factors for mortality and development of sequelae after DReSS.

Diphenylcyclopropenone in severe alopecia areata in children and adolescents: long-term follow-up and relapse rate

Background Reports on the long-term treatment of alopecia areata (AA) in children with diphenylcyclopropenone (DPCP) are few. Objective To assess response, side effects, and relapse rates during long-term follow-up in children with severe AA treated with DPCP. Effect of different patient and treatment-related factors on prognosis and value of maintenance therapy were also assessed. Patients and methods In this interventional prospective study, 144 patients of AA were treated with DPCP. Response was assessed according to sex, type of AA, age of onset, and duration of disease. Excellent response was defined as terminal hair covering more than 75% of the scalp. Maintenance therapy meant ongoing therapy once every 2–4 weeks after excellent response. Follow up for an average of 22 months was performed to detect any relapse of AA which meant more than 25% hair loss. Results Ninety-two patients completed 12 months of therapy. Thirty (32.6%) patients achieved excellent response, 33 (35.9%) moderate, and 29 (31.5%) poor response. Seventy-three patients completed 18 months of therapy. Fouty-eight (65.8%) achieved excellent response, 10 (13.7%) moderate, and 15 (20.5%) poor response. Different clinical variables did not affect the response, however, a significant difference in the beginning of terminal hair growth according to type of AA was found (P=0.002) where 10% of responders among alopecia universalis patients started to grow terminal hair more than 12 months after the onset of therapy. Side effects were few and tolerable. Relapse occurred in 47% of patients on maintenance and 78% of patients without maintenance therapy (P=0.048). Conclusion DPCP is an effective and safe treatment of severe AA in children. Prolonging the duration of therapy may improve the response in alopecia universalis and alopecia totalis. Maintenance therapy is recommended to reduce the risk of relapse.

Decreased vascular reactivity associated with increased IL-8 in 6-month-old infants of mothers with pre-eclampsia.

Offspring born to mothers with pre-eclampsia (Pre-E) suffer higher risks of adult cardiovascular diseases, suggesting that exposure to an antiangiogenic environment in-utero has a lasting impact on the development of endothelial function. The goal of this study is to test the hypothesis that in-utero exposure to Pre-E results in alterations of angiogenic factors/cytokines that negatively impact vascular development during infancy. Infants born from mothers with and without Pre-E were recruited and followed up at 6 months. Plasma cytokines, blood pressure, microvessel density, and vascular reactivity were assessed. 6-month-old infants born to mothers with Pre-E had unchanged blood pressure (p = 0.86) and microvessel density (p = 0.57). Vascular reactivity was decreased in infants born to mothers with Pre-E compared to infants born to healthy mothers (p = 0.0345). Interleukin 8 (IL-8) (p = 0.03) and Angiopoeitin-2 (Ang-2) (p = 0.04) were increased in infants born to mothers with Pre-E. We observed that higher IL-8 was associated with lower vascular reactivity (rho = -0.14, p < 0.0001). At 6 months of age, infants born to mothers with Pre-E had impaired vascular reactivity and higher IL-8 and Ang-2, but similar blood pressure and microvessel density compared to infants born to non-Pre-E mothers. Changes in cord blood antiangiogenic factors are documented in infants of mothers with pre-eclampsia and may contribute to offspring risks of adult cardiovascular disease. How these factors evolve during early infancy and their correlation with offspring vascular development have not been studied. This study found that 6-month-old infants born to mothers with pre-eclampsia had decreased vascular reactivity, which was correlated with higher IL-8. These findings underscore the lasting impact of maternal pre-eclampsia on offspring vascular development and highlight the need for long-term follow-up in children born to mothers with pre-eclampsia.

Risk for Recurrence in Long-Term Follow-Up of Children after Liver Transplantation for Hepatoblastoma or Hepatocellular Carcinoma.

The aim of this study was to assess the long-term results of liver transplantation (LT) in pediatric patients with unresectable hepatoblastoma (HB) or hepatocellular carcinoma (HCC) with special reference to the risk of tumor recurrence. We retrospectively analyzed data from 46 HB and 26 HCC patients who underwent LT between 1990 and 2022. In HCC patients, we compared outcomes depending on donor type. We evaluated the impact of a number of risk factors on recurrence-free survival after LT. Estimated patient survival after 5, 10, and 15 years was 82%, 73%, and 73% in the HB group and 79%, 75%, and 75% in the HCC group, respectively (p = 0.76). In the HCC group, living donor LT (LDLT) and deceased donor LT (DDLT) provided similar patient survival (p = 0.09). Estimated recurrence-free survival in patients who had three or fewer risk factors was significantly better than in patients with more than three risk factors (p = 0.0001). Adequate patient selection is necessary when considering LT for primary liver tumors in children. The presence of more than three risk factors is associated with a very high risk of recurrence and indicates poor prognosis, whereas extrahepatic disease may be considered a contraindication for transplantation.

Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.

To investigate genotype-phenotype characteristics and long-term prognosis of neonatal carbamoyl phosphate synthetase 1 (CPS1) deficiency among children through newborn screening in Zhejiang province. The clinical and follow-up data of children with CPS1 deficiency detected through neonatal screening and confirmed by tandem mass spectrometry and genetic testing in Zhejiang Province Newborn Disease Screening Center from September 2013 to August 2023 were retrospectively analyzed. A total of 4 056 755 newborns were screened and 6 cases of CPS1 deficiency were diagnosed through phenotypic and genetic testing. Ten different variations of CPS1 genewere identified in genetic testing, including 2 known pathogenic variations (c.2359C>T and c.1549+1G>T) and 8 unreported variations (c.3405-1G>T, c.2372C>T, c.1436C>T, c.2228T>C, c.2441G>A, c.3031G>A, c.3075T>C and c.390-403del). All patients had decreased citrulline levels (2.72-6.21 μmol/L), and varying degrees of elevated blood ammonia. The patients received restricted natural protein intake (special formula), arginine and supportive therapy after diagnosis, and were followed-up for a period ranging from 9 months to 10 years. Three patients experienced hyperammonemia, and one patient each had attention deficit hyperactivity disorder, transient facial twitching and increased muscle tone. One patient died, while the other five surviving patients had normal scores of the Ages & Stages Questionnaires (ASQ) and Griffiths Development Scales up to the present time; 4 cases had combined height or weight lag and one case was normal in height and weight. Low citrulline levels and hyperammonemia are common in CPS1 deficiency patients in Zhejiang. Most gene variants identified were specific to individual families, and no hotspot mutations were found. Early diagnosis through newborn screening and following standardized treatment can significantly improve the prognosis of the patients.

Analysis of gene variation and long-term follow-up in children with phenylalanine hydroxylase deficiency diagnosed by newborn screening.

To retrospectively analyze the variation and characteristics of phenylalanine hydroxylase (PAH) gene, and to observe the long-term treatment effect and follow-up of newborns with PAH deficiency. Clinical data, treatment and follow-up results of 198 patients with PAH deficiency diagnosed by newborn screening in Jinan from 1996 to 2021 were collected. The genetic analysis of 55 patients with PAH deficiency diagnosed by newborn screening in Jinan and 213 patients referred from the surrounding areas of Jinan were summarized. Gene variations were checked by a customized Panel gene detection method. Blood phenylalanine-concentration and physical development indicators including height and weight were regularly monitored. Intellectual development was assessed using a neuropsychological development scale for patients aged 0-6 years and academic performance, and brain injury in patients was assessed using brain magnetic resonance imaging. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. The genotype of c.158G>A variation is compound heterozygous variation, with mainly a mild hyperpheny-lalaninemia. 168 patients with PAH deficiency who were followed-up regularly had normal physical development without dwarfism or malnutrition. Among the 33 preschool patients who underwent mental development assessment, 2 were mentally retarded and the initial treatment age was older than 6 months. Nine patients with an average age of (17.13±2.42) years completed brain magnetic resonance imaging, one case was normal, and 8 cases were abnormal. There were patchy or patchy hyperintense foci near the bilateral lateral ventricles on T2WI, and the intellectual development was normal. Compared with the other eight patients, the blood phenylalanine concentration of the normal child was better and stably controlled within the ideal range. c.728G>A, c.158G>A, c.721C>T, c.1068C>A, c.611A>G variations were common in PAH gene. After standardized treatment, most patients with PAH deficiency diagnosed by screening can obtain normal growth and intellectual development in adolescence, but there are different degrees of organic lesions in the cerebral white matter.

Long-term follow-up of children with chronic non-bacterial osteomyelitis—assessment of disease activity, risk factors, and outcome

IntroductionChronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone-disease of unknown origin. The National Pediatric Rheumatologic Database (NPRD) collects long-term data of children and adolescents with rheumatic diseases including CNO.ObjectiveTo assess characteristics, courses, and outcomes of CNO with onset in childhood and adolescence and to identify outcome predictors.MethodsFrom 2015 to 2021 patients with a confirmed diagnosis of CNO, who were registered in the NPRD during their first year of disease and at least one follow-up visit, were included in this analysis and observed for up to 4 years.ResultsFour hundred patients with recent diagnosis of CNO were enrolled in the NRPD during the study period. After 4 years, patient data documentation was sufficient to be analyzed in 81 patients. A significant decline of clinical and radiological lesions is reported: at inclusion in the registry, the mean number of clinical lesions was 2.0 and 3.0 MRI lesions per patient. A significant decrease of manifestations during 4 years of follow-up (mean clinical lesions 0.5, p < 0.001; mean MRI lesions 0.9 (p < 0.001)) was documented. A significant improvement of physician global disease activity (PGDA), patient-reported overall well-being, and childhood health assessment questionnaire (C-HAQ) was documented. Therapeutically, an increase of disease-modifying anti-rheumatic drugs over the years can be stated, while bisphosphonates rather seem to be considered as a therapeutic DMARD option in the first years of disease. Only 5–7% of the patients had a severe disease course as defined by a PGDA > = 4. Predictors associated with a severe disease course include the site of inflammation (pelvis, lower extremity, clavicle), increased erythrocyte sedimentation rate, and multifocal disease at first documentation. The previously published composite PedCNO disease activity score was analyzed revealing a PedCNO70 in 55% of the patients at 4YFU.ConclusionAn improvement of physician global disease activity (PGDA), patient reported overall well-being and imaging-defined disease activity measures was documented, suggesting that inactivity of CNO disease can be reached. PedCNO score and especially PGDA, MRI-defined lesions and in a number of patients also the C-HAQ seem to be reliable parameters for describing disease activity. The identification of risk factors at the beginning of the disease might influence treatment decision in the future.

Long-term follow-up of children who achieved sustained unresponsiveness after peanut oral immunotherapy

Long-term follow-up of children who achieved sustained unresponsiveness after peanut oral immunotherapy

A long-term follow-up of a case of Rogers syndrome, Thiamine responsive megaloblastic anemia

Thiamine-responsive megaloblastic anemia (TRMA) also known as Rogers syndrome is a rare autosomal recessive disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive sensorineural deafness. The disease can be manifested anytime between infancy and adolescence, and all the cardinal findings may not be present at the time of the diagnosis. The main defect lies in the active thiamine uptake into cells which is disturbed. Not many cases have been reported about the long-term follow-up of children with this disorder and their associated complications. We hereby report a 14 years follow-up of a girl with Rogers syndrome diagnosed at toddler age with nonresponsive anemia and diabetes and further progressed to have sensorineural hearing loss. Her clinical exome study showed a mutation in the SLC19A2 gene. This experience illustrates the relevance of a detailed evaluation and regular follow-up to assess the progression of the syndrome till her pubertal age.

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis. The aims of this study were to describe the clinical and molecular characteristics of patients with genetically confirmed GNAS mutations and to evaluate their long-term outcomes. A retrospective search for all patients diagnosed with PHPIA in 2 referral centers in Israel was conducted. Nine children (8 females) belonging to 6 families were included in the study. Five patients had GNAS missense mutations, 2 had deletions, and 2 had frameshift mutations. Four mutations were novel. Patients were referred at a mean age of 2.4 years due to congenital hypothyroidism (5 patients), short stature (2 patients), or obesity (2 patients), with a follow-up duration of up to 20 years. Early obesity was observed in the majority of patients. Elevated parathyroid hormone was documented at a mean age of 3 years; however, hypocalcemia became evident at a mean age of 5.9 years, about 3 years later. All subjects were diagnosed with mild to moderate mental retardation. Female adult height was very short (mean -2.5 SD) and 5 females had primary or secondary amenorrhea. Long-term follow-up of newborns with a combination of congenital hypothyroidism, early-onset obesity, and minor dysmorphic features associated with PHPIA is warranted and molecular analysis is recommended since the complete clinical phenotype may develop a long time after initial presentation.

A Single-Center Retrospective Study of Pediatric Vitiligo in a Tertiary Hospital.

Vitiligo is a common disorder; however, its management is unknown by many primary-care doctors and pediatricians. Most articles focus on adults; we analyze the characteristics and impact on children. A single-center retrospective study was conducted over 10 years on 254 children diagnosed with vitiligo. About 50.4% were male with a mean age of 8.24 years. There was a slight predominance of nonsegmented vitiligo. About 12.59% had family history of vitiligo and 11.4% of autoimmune diseases. Around 15.7% patients presented other dermatological diseases and 9.05%, autoimmune diseases. No significant statistical differences were found when comparing age, sex, and type of vitiligo with other variables. Almost 96.06% received treatment with calcineurin inhibitors and 66.53% topical steroids. Around 77% obtained repigmentation, and out of the initial nonresponders, 16% responded to phototherapy. In general, our results concur with the scarce literature. A long-term follow-up of children with vitiligo is needed to identify treatment side effects and diseases associated.

Vagus Nerve Stimulation Electrode Impedance Over Time in Children With Lennox-Gastaut Syndrome

ObjectiveThis manuscript describes the behavior of impedance of vagus nerve stimulation (VNS) electrode over time in a cohort of children with Lennox-Gastaut syndrome. Materials and MethodsNineteen consecutive pediatric patients with Lennox-Gastaut syndrome submitted to VNS were studied. All patients had at least four years of follow-up. Serial impedance measurements were carried out during every out-patient visit. A baseline value was obtained one month after surgery, before generator activation and yearly values were recorded for the next four years. Outcome regarding seizures was obtained through analysis of standardized seizure diaries filled out by the patient, relatives, or caregivers. ResultsThere were 12 boys. Age ranged from four to 14 years (mean = 7.2). Mean impedance value was 2635 Ω at baseline, 2576 Ω after one year, 2418 Ω after two years, 2340 Ω after three years, and 2241 Ω after four years. There was a mean impedance decrease of 17% after four years. This decrease was statistically significant compared with baseline by the second year of follow-up: p = 0.342 after one year, p = 0.007 after two years, p = 0.001 after three years, and p = 0.001 after four years. There was no significant relationship between impedance values and seizure outcome at any time point. ConclusionsVNS electrode impedance significantly decreased during long-term follow-up in children with Lennox-Gastaut syndrome. To our knowledge, this is the first report on such findings regarding VNS in the literature. These findings suggest that the electrode/nerve interface is stable during long-term follow-up of VNS therapy and that this preserved anatomical relationship might be related to our ability to safely stimulate and review/explant the system whenever needed.

Long-term follow-up of children with hearing loss that is minimally progressive

Objectives The purpose of this study was to describe changes in audiometric thresholds over time in children whose hearing loss demonstrated early mild progression. Design This was a retrospective follow-up study to examine long-term audiologic results in children with progressive loss. Study sample We examined audiologic data for 69 children, (diagnosed from 2003 to 2013), who had been previously categorised as having “minimal” progressive hearing loss. Results Children had a median of 10.0 (7.5, 12.1) years of follow-up and a median age of 12.5 (IQR: 11.0, 14.5) years; 92.8%; 64 of 69) of children continued to show progressive hearing loss (defined as a decrease of ≥10 dB at two or more adjacent frequencies between 0.5 and 4 kHz or a decrease in 15 dB at one frequency) in at least one ear since diagnosis. Further examination showed that 82.8% of ears (106 of 128) had deterioration in hearing. Of the 64 children, 29.7% (19/64) showed further deterioration since the first analysis. Conclusion More than 90% of children identified as having minimal progressive hearing loss continued to show deterioration in hearing. Ongoing audiological monitoring of children with hearing loss is indicated to ensure timely intervention and to better counsel families.

Universal neonatal hearing screening and delayed hearing loss or late-developmental hearing loss

ObjectiveTo determine the percentage of children with permanent bilateral postnatal hearing loss in order to study its incidence, related risk factors, diagnosis and treatment. MethodsRetrospective study to collect data on children diagnosed with hearing loss outside the neonatal period in the Hearing Loss Unit of the Hospital Universitario Central de Asturias, from April 2014 to April 2021. Results52 cases met the inclusion criteria. The detection rate of congenital hearing loss in the neonatal screening programme in the same study period was 1.5 children per thousand newborns per year, adding postnatal hearing loss results in a rate of infant bilateral hearing loss of 2.7 children per thousand (55.5% and 44.4% respectively). Thirty-five children presented risk factors for hearing loss, of which 23 were at retrocochlear risk. The mean age at referral was 91.9 (18–185) months. Hearing aid fitting was indicated in 44 cases (84.6%). Cochlear implantation was indicated in eight cases (15.4%). DiscussionAlthough congenital hearing loss accounts for the majority of childhood deafness, postnatal hearing loss has a significant incidence. This may be mainly due to: (1) that hearing impairment may arise in the first years of life, (2) that mild hearing loss as well as hearing loss in severe frequencies are undetectable by neonatal screening in some cases, (3) that some children may have false negative results. Conclusionpostnatal hearing loss requires identification of risk factors and long-term follow-up of children with hearing loss, as it needs to be detected and treated early.

Cribado auditivo neonatal universal e hipoacusia diferida o de desarrollo tardío

ObjectiveTo determine the percentage of children with permanent bilateral postnatal hearing loss in order to study its incidence, related risk factors, diagnosis and treatment. MethodsRetrospective study to collect data on children diagnosed with hearing loss outside the neonatal period in the Hearing Loss Unit of the Hospital Universitario Central de Asturias, from April 2014 to April 2021. Results52 cases met the inclusion criteria. The detection rate of congenital hearing loss in the neonatal screening programme in the same study period was 1.5 children per thousand newborns per year, adding postnatal hearing loss results in a rate of infant bilateral hearing loss of 2.7 children per thousand (55.5% and 44.4% respectively). Thirty-five children presented risk factors for hearing loss, of which 23 were at retrocochlear risk. The mean age at referral was 91.9 (18-185) months. Hearing aid fitting was indicated in 44 cases (84.6%). Cochlear implantation was indicated in eight cases (15.4%). DiscussionAlthough congenital hearing loss accounts for the majority of childhood deafness, postnatal hearing loss has a significant incidence. This may be mainly due to: 1) that hearing impairment may arise in the first years of life, 2) that mild hearing loss as well as hearing loss in severe frequencies are undetectable by neonatal screening in some cases, 3) that some children may have false negative results. ConclusionPostnatal hearing loss requires identification of risk factors and long-term follow-up of children with hearing loss, as it needs to be detected and treated early.

The Journal of Urology ® Home Study Course 2023 Volume 209/210

<i>The Journal of Urology</i> ® Home Study Course 2023 Volume 209/210

A Better Understanding of Pediatric Autoimmune Pancreatitis: Over 13 Years of Experience.

Pediatric autoimmune pancreatitis (P-AIP) is an uncommon disease whose diagnosis requires strong clinical suspicion. Late diagnosis increases morbidity. We aimed to compare the usefulness of the 2011 International Consensus Diagnostic Criteria (ICDC) for Autoimmune Pancreatitis with the 2018 INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In search for a cuRE) criteria. We retrospectively analyzed demographics and clinical, laboratory, radiological, and histological findings at diagnosis and during long-term follow-up in children diagnosed with AIP in 2 tertiary hospitals between 2008 and 2021. We included 11 patients [6 girls; median age at diagnosis, 12.5 (range 2.8-15.7) years]. The most common symptom was abdominal pain. Pancreatic enzymes were elevated in 10 patients, and serum immunoglobulin G4 was elevated in 1. Magnetic resonance imaging showed enlargement of the pancreatic head in 10 patients and general pancreatic enlargement in 1. Pancreatic and papilla tissue were obtained from 9 patients. All patients received corticosteroids (prednisolone), and 4 also received azathioprine. According to the ICDC, all patients were classified as probable or non-otherwise specified AIP. According to INSPPIRE criteria, all patients were classified as AIP. Using the INSPPIRE criteria would have avoided biopsies in 6 patients who responded well to corticosteroids. The INSPPIRE criteria are useful. Using the ICDC in pediatric patients can delay diagnosis and result in unnecessary invasive tests.

391 - Clinical Outcomes and Long-Term Follow-up of Children with Mixed Myeloid Chimerism Following Hematopoietic Cell Transplantation (HCT) for Sickle Cell Disease (SCD)

391 - Clinical Outcomes and Long-Term Follow-up of Children with Mixed Myeloid Chimerism Following Hematopoietic Cell Transplantation (HCT) for Sickle Cell Disease (SCD)

Острый постстрептококковый гломерулонефрит у детей — реальность и парадоксы. Обзор литературы

Acute post-streptococcal glomerulonephritis (APSGN) is an immune-mediated disease associated with nephritogenic strains of group A beta-hemolytic streptococcus. The epidemiology of APSGN varies in different countries, due to the influence of social, racial, demographic, and climatic conditions. In the modern spectrum of progressive diseases, APSGN occupies a modest place, yielding to other immune glomerulopathies. The prevalence rate has been declining in recent decades due to the decrease in pyoderma, however, it remains endemic to the French Polynesians and Australian Aborigines. The review defines the features of the immunological processes of this disease: nephritogens were identified at the site of the formation of immune complexes (streptococcal plasmin receptor and streptococcal pyrogenic exotoxin B). An assessment of the clinical profile of patients with APSGN (mostly asymptomatic course with a self-limiting (self-limiting) outcome) was carried out. The role of genomic surveillance in tracking potential markers of APSGN is emphasized. Risk factors for the development of kidney damage were identified — hypoalbuminemia, hypocomplementemia, and an increase in inflammatory markers. The paper considers the factors that determine the prognosis in patients, presents the main approaches to treatment (predominantly symptomatic therapy, with the exception of severe and atypical cases of the disease). It is concluded that APSGN remains one of the reasons for the development of AKI in different countries of the world. The article gives recommendations on long-term follow-up of children after APSGN. The purpose is to analyze the prevalence and identify the factors contributing to OPSGN; to determine the specifics of the disease immunological processes of the (immunocomplexity, autoimmunity); to evaluate the clinical profile, diagnostic methods and features of OPSGN treatment; to discuss the possible progression of the disease and whether PSGN is associated with chronic kidney disease (CKD).

Characterisation and long-term follow-up of children with Brugada syndrome: experience from a tertiary paediatric referral centre.

Brugada syndrome is an inherited condition, which typically presents in young adults. It can also be diagnosed in children, but data in this group remain scarce. This study aims to describe the clinical features, management, and follow-up of children with personal or family history of Brugada syndrome. Retrospective study of consecutive patients with Brugada history followed up in a tertiary paediatric referral centre between 2009 and 2021. Patients were assessed according to the phenotype: positive (with variable genotype) or negative (with positive genotype). Thirty patients were included (mean age at diagnosis 7 ± 6 years, 53% male). Within the positive phenotype (n = 16), 81% were male, and 88% had spontaneous type 1 ECG pattern. A genetic test was performed in 88% and was positive in 57%. Fourteen patients had a negative phenotype-positive genotype, 79% female, all diagnosed during family screening; 43% mentioned family history of sudden cardiac death. Although most of the patients were asymptomatic, the prevalence of rhythm/conduction disturbances was not negligible, particularly if a positive phenotype. No clinically significant events were reported in the negative phenotype patients. Three patients were hospitalised due to an arrhythmic cause, all in patients with a positive phenotype. In our study, the documentation of rhythm and conduction disturbances was not infrequent, especially in patients with a positive phenotype. Despite the significant family history, phenotype negative patients had no relevant events during follow-up. Nevertheless, the management of these patients is not clear cut, and a personalised therapeutic strategy with close follow-up is essential.