Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.

Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobulinemia, recurrent infections, and hypertrophic cardiomyopathy (HCM). Two of them also presented with intermittent or severe chronic neutropenia. We identified homozygous or compound-heterozygous variants in the gene for folliculin interacting protein 1 (FNIP1), leading to loss of the FNIP1 protein. B-cell metabolism, including mitochondrial numbers and activity and phosphatidylinositol 3-kinase/AKT pathway, was impaired. These defects recapitulated the Fnip1-/- animal model. Moreover, we identified either uniparental disomy or copy-number variants (CNVs) in 2 patients, expanding the variant spectrum of this novel inborn error of immunity. The results indicate that FNIP1 deficiency can be caused by complex genetic mechanisms and support the clinical utility of exome sequencing and CNV analysis in patients with broad phenotypes, including agammaglobulinemia and HCM. FNIP1 deficiency is a novel inborn error of immunity characterized by early and severe B-cell development defect, agammaglobulinemia, variable neutropenia, and HCM. Our findings elucidate a functional and relevant role of FNIP1 in B-cell development and metabolism and potentially neutrophil activity.

CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.

CD40 ligand (CD40L) deficiency is a rare inborn error of immunity presenting with heterogeneous clinical manifestations. While a detailed characterization of patients affected by CD40L deficiency is essential to an accurate diagnosis and management, information about this disorder in Latin American patients is limited. We retrospectively analyzed data from 50 patients collected by the Latin American Society for Immunodeficiencies registry or provided by affiliated physicians to characterize the clinical, laboratory, and molecular features of Latin American patients with CD40L deficiency. The median age at disease onset and diagnosis was 7 months and 17 months, respectively, with a median diagnosis delay of 1 year. Forty-seven patients were genetically characterized revealing 6 novel mutations in the CD40LG gene. Pneumonia was the most common first symptom reported (66%). Initial immunoglobulin levels were variable among patients. Pneumonia (86%), upper respiratory tract infections (70%), neutropenia (70%), and gastrointestinal manifestations (60%) were the most prevalent clinical symptoms throughout life. Thirty-five infectious agents were reported, five of which were not previously described in CD40L deficient patients, representing the largest number of pathogens reported to date in a cohort of CD40L deficient patients. The characterization of the largest cohort of Latin American patients with CD40L deficiency adds novel insights to the recognition of this disorder, helping to fulfill unmet needs and gaps in the diagnosis and management of patients with CD40L deficiency.

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.

AIM: We analyzed data from 71 patients with chronic granulomatous disease (CGD) with a confirmed genetic diagnosis, registered in the online Latin American Society of Primary Immunodeficiencies (LASID) database. RESULTS: Latin American CGD patients presented with recurrent and severe infections caused by several organisms. The mean age at disease onset was 23.9 months, and the mean age at CGD diagnosis was 52.7 months. Recurrent pneumonia was the most frequent clinical condition (76.8%), followed by lymphadenopathy (59.4%), granulomata (49.3%), skin infections (42%), chronic diarrhea (41.9%), otitis (29%), sepsis (23.2%), abscesses (21.7%), recurrent urinary tract infection (20.3%), and osteomyelitis (15.9%). Adverse reactions to bacillus Calmette-Guérin (BCG) vaccination were identified in 30% of the studied Latin American CGD cases. The genetic diagnoses of the 71 patients revealed 53 patients from 47 families with heterogeneous mutations in the CYBB gene (five novel mutations: p.W361G, p.C282X, p.W483R, p.R226X, and p.Q93X), 16 patients with the common deletion c.75_76 del.GT in exon 2 of NCF1 gene, and two patients with mutations in the CYBA gene. CONCLUSION: The majority of Latin American CGD patients carry a hemizygous mutation in the CYBB gene. They also presented a wide range of clinical manifestations most frequently bacterial and fungal infections of the respiratory tract, skin, and lymph nodes. Thirty percent of the Latin American CGD patients presented adverse reactions to BCG, indicating that this vaccine should be avoided in these patients.

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

BACKGROUND: Severe combined immunodeficiency (SCID) is a syndrome characterized by profound T-cell deficiency. BCG vaccine is contraindicated in patients with SCID. Because most countries encourage BCG vaccination at birth, a high percentage of patients with SCID are vaccinated before their immune defect is detected. OBJECTIVES: We sought to describe the complications and risks associated with BCG vaccination in patients with SCID. METHODS: An extensive standardized questionnaire evaluating complications, therapeutics, and outcomes regarding BCG vaccination in patients given a diagnosis of SCID was widely distributed. Summary statistics and association analysis was performed. RESULTS: Data on 349 BCG-vaccinated patients with SCID from 28 centers in 17 countries were analyzed. Fifty-one percent of the patients had BCG-associated complications, 34% disseminated and 17% localized (a 33,000- and 400-fold increase, respectively, over the general population). Patients receiving early vaccination (≤1 month) showed an increased prevalence of complications (P = .006) and death caused by BCG-associated complications (P < .0001). The odds of experiencing complications among patients with T-cell numbers of 250/µL or less at diagnosis was 2.1 times higher (95% CI, 1.4-3.4 times higher; P = .001) than among those with T-cell numbers of greater than 250/µL. BCG-associated complications were reported in 2 of 78 patients who received antimycobacterial therapy while asymptomatic, and no deaths caused by BCG-associated complications occurred in this group. In contrast, 46 BCG-associated deaths were reported among 160 patients treated with antimycobacterial therapy for a symptomatic BCG infection (P < .0001). CONCLUSIONS: BCG vaccine has a very high rate of complications in patients with SCID, which increase morbidity and mortality rates. Until safer and more efficient antituberculosis vaccines become available, delay in BCG vaccination should be considered to protect highly vulnerable populations from preventable complications.

[Congenital cystic adenomatoid malformation of the lung, intrauterine diagnostic and treatment. A case report and literature review]. / Enfermedad adenomatoidea quística pulmonar, diagnóstico y manejo intrauterino. Reporte de un caso y revisión bibliográfica.

The use of prenatal ultrasonography has improve the detection of fetal abnormalities, which affects the perception about the natural history and evolution of them, changing the management of the fetus and neonate. Today, it is possible to perform an early prenatal diagnosis, and be treated even intrauterine with high rates of success. Such is the case of Congenital Cystic Adenomatoid Malformation (CCAM), characterized by abnormal proliferation and dilatation of the terminal structures of the airway, generating multiple cysts of diferent sizes and locations. The CCAM can be asymptomatic until adulthood, but sometimes it is presented as an adverse perinatal outcome, manifested with ascites, hydrothorax, hydrops and hypoplasia of the affected lung. We report a case of a pregnant women, 32-year-old, diagnosed on the 18 week pregnancy by ultrasound Type 3 Congenital Cystic Adenomatoid Malformation disease. Treated with an intrauterine intervention percutaneous fetal sclerotherapy successfully.

[Ductus arteriosus aneurysm. Case report and review of the literature]. / Aneurisma de conducto arterioso: reporte de un caso y revisión de la bibliografía.

The saccular or fusiform dilatation of the ductus arteriosus is called aneurysm (DAA). It is diagnosed in the second trimester during a structural ultrasound. Even though the reported incidence is 2.2%, it remains infrequent, because it is not searched routinely. The pathogenesis is uncertain, resulting from an increase on the circulating blood volume thus in the cardiac afterload, associated to a thinning of the vessel wall, for an inadequate intima development. Ductus arteriosus aneurysm can be classified according by their diameter as small (<7 mm.) and large (> or =8 mm). The smaller commonly closes spontaneously in 70% of the cases, unlike the larger one, they are associate in a greater number of complications, such as thrombosis, embolism, infection, compression effects of adjacent structures and spontaneous rupture. The absence of spontaneous closure, according to the symptoms and possible complications, a neonatal surgical closure should be considered. We report a case of a 35-year-old patient, diagnose on the 35 week pregnancy, a ductus arteriosus aneurysm by ultrasound with an image of the three vessels performed communicating, saccular dilatation of 7-8 mm. and a turbulent Doppler flow.

[Recommendations for the management of latex allergy in pediatrics]. / Recomendaciones para el manejo de la alergia al látex en pediatría.

Latex allergy, or natural rubber latex allergy (NRLA), is a global health concern, even among the pediatric population, with symptoms varying in severity from mild to potentially life-threatening. Latex is derived from the Hevea Brasiliensis tree, producing twelve million tons annually for use in various everyday and medical products. Despite efforts to mitigate NRLA, its prevalence remains high, especially in at- risk groups such as children with spina bifida. Clinical manifestations include immediate and delayed symptoms, even anaphylactic reactions. Diagnosis involves a detailed medical history and specific tests. Prevention focuses on avoiding exposure, especially in medical and educational settings. Treatment, including immunotherapy, exhibits variable efficacy. NRLA has a strong negative impact on children's quality of life. The objective of this publication is to provide updated information and practical tools for the pediatrician's and allergist's practice.

La alergia al látex del caucho natural (ALCN) es un problema de salud global, incluso en población pediátrica, con síntomas de gravedad variable, desde leves hasta potencialmente mortales. El látex se obtiene del árbol Hevea brasiliensis; se producen doce millones de toneladas anuales que se utilizan en diversos productos cotidianos y médicos. A pesar de los esfuerzos para mitigar la ALCN, su prevalencia sigue siendo alta, especialmente en grupos de riesgo, como niños con espina bífida. Las manifestaciones clínicas incluyen síntomas inmediatos y retardados, hasta reacciones anafilácticas. El diagnóstico requiere una historia clínica detallada y pruebas específicas. La prevención se centra en evitar la exposición, especialmente en entornos médicos y escolares. El tratamiento, incluida la inmunoterapia, muestra eficacia variable. La ALCN tiene un fuerte impacto negativo en la calidad de vida. El objetivo de esta publicación es proveer información actualizada y herramientas prácticas para el consultorio del pediatra y el alergólogo.

Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.

Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

[Pediatric cardiovascular surgical data base registry in México. First report]. / El Registro Mexicano de Cirurgía Cardiaca Pediátrica. Primer informe.

INTRODUCTION: Current world tendency is the detection of health problems in order to offer solution alternatives by means of the development of computarized data bases. OBJECTIVE: To present the results of a computerized data base developed for the registry of pediatric cardiac surgery with the support of Asociación Mexicana de Especialistas en Cardiopatías Congénitas (AMECC, A.C.). MATERIAL AND METHODS: A one-year analysis (from August 1, 2011 to July 31, 2012) of a computerized data base was performed with the support of AMECC and the participation of the most important Mexican institutions for pediatric surgical heart disease health care, particularly for the uninsured population. RESULTS: There were 7 health institutions voluntarily incorporated to the national data base registry, and in the first year of observation, 943 surgical procedures in 880 patients and 7% re-operations (n = 63), were reported. Patients up to one-year old accounted for 38%. The most frequent types of operated congenital heart diseases were: patent ductus arteriosus (n = 96), ventricular septal defect (n = 86), tetralogy of Fallot (n = 72), atrial septal defect (n = 68), and aortic coarctation (n = 54). Elective procedures were 90%, and 62% of them were performed with the use of cardiopulmonary bypass. Overall mortality was 7.5% with the following RACHS-1 score risk distribution: 1 (n = 4.2%), 2 (n = 19.6%), 3 (n = 22.8%), 4 (n = 12.19%), 5 (n = 1.25%), 6 (n = 6.44%) and not classifiable (n = 2.9%). CONCLUSIONS: Although this analysis gives a representative vision of the cardiovascular surgical health care for the uninsured national pediatric population, the incorporation of other health institutions to this data base may lead us to have a most realistic overview in relation to the surgical cardiovascular health care for the up to 18 year-old population.

[Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity]. / Recomendaciones para el cuidado, prevención de infecciones y quimioprofilaxis en los errores innatos de la inmunidad.

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert..

Los errores innatos de la inmunidad (EII), antes llamados inmunodeficiencias primarias (IDP), son un grupo heterogéneo de trastornos genéticos con defectos en uno o más componentes del sistema inmune. Los pacientes afectados por EII presentan aumentada susceptibilidad a microorganismos únicos o múltiples que se manifestará con infecciones recurrentes de diferente tipo y gravedad dependiendo del tipo de la localización del defecto. La prevención de infecciones es uno de los pilares fundamentales en el abordaje integral de los pacientes con EII. En este trabajo se resumen las conclusiones consensuadas en el Grupo de Trabajo de Inmunología Pediátrica de la Sociedad Argentina de Pediatría, sobre la base de la revisión de la evidencia disponible, respecto a los principios esenciales para el cuidado, la prevención de infecciones y la quimioprofilaxis en los errores innatos de la inmunidad para la orientación del pediatra y especialista dedicados al seguimiento de estas enfermedades.

[Allergic rhinitis in pediatrics: recommendations for diagnosis and treatment]. / Rinitis alérgica en pediatría: recomendaciones para su diagnóstico y tratamiento.

Allergic rhinitis (AR) is one of the most common chronic diseases in children. However, it remains underdiagnosed and undertreated. Its prevalence has increased in recent years and varies from 2 to 25 %. Symptoms include sneezing, itching, runny nose, and nasal congestion. A correct diagnosis and treatment of AR and its comorbidities such as rhinosinusitis with or without nasal polyposis, conjunctivitis, otitis media, bronchial asthma and respiratory tract infections, are important to reduce the negative impact on the quality of life of the patient and their relatives, and in medical costs. Specific allergen immunotherapy, in correctly selected patients, prevents new sensitizations and reduces bronchial hyperreactivity associated with AR. Taking into account all these reasons, the National Allergy Committee of the Sociedad Argentina de Pediatría proposes current evidence based recommendations.

La rinitis alérgica (RA) es una de las enfermedades crónicas más frecuentes de la infancia. Sin embargo, permanece subdiagnosticada y subtratada. Su prevalencia ha aumentado en los últimos años y varía del 2 % al 25 %. Los síntomas de la RA incluyen estornudos, prurito, rinorrea y congestión nasal. Un correcto diagnóstico y tratamiento de la RA y sus comorbilidades, tales como rinosinusitis con o sin poliposis nasal, conjuntivitis, otitis media, asma bronquial e infecciones del tracto respiratorio, son importantes para reducir el impacto negativo en la afectación de la calidad de vida del paciente y sus familiares, y los gastos sanitarios que ocasiona. La inmunoterapia alérgeno específica, en pacientes correctamente seleccionados, previene nuevas sensibilizaciones y reduce la hiperreactividad bronquial asociada a la RA. Considerando todos estos factores, el Comité Nacional de Alergia de la Sociedad Argentina de Pediatría propone recomendaciones basadas en la evidencia actual.

Characteristics and Outcomes of Cases of Children and Adolescents With Pediatric Inflammatory Multisystem Syndrome in a Tertiary Care Center in Mexico City.

Background: Pediatric inflammatory multisystem syndrome (PIMS) is a complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in children that resembles Kawasaki syndrome and places them at high risk of cardiorespiratory instability and/or cardiac damage. This study aims to describe the clinical presentation and outcomes of patients with PIMS in Mexico City. Methods: This was an observational study of children hospitalized for PIMS based on the Centers for Disease Control and Prevention case definition criteria, in a single tertiary care pediatric center in Mexico City between May 1, 2020, and September 30, 2021. Demographic characteristics, epidemiological data, medical history, laboratory tests, cardiologic evaluations, treatment, and clinical outcomes were analyzed. Results: Seventy-five cases fulfilled the case definition criteria for PIMS [median age: 10.9 years, Interquartile range (IQR): 5.6-15.6]. Fifteen (20%) patients had a severe underlying disease, 48 (64%) were admitted to the intensive care unit, 33 (44%) required invasive mechanical ventilation and 39 (52%) received vasopressor support. The patients were clustered through latent class analysis based on identified symptoms: Cluster 1 had rash or gastrointestinal symptoms (n = 60) and cluster 2 were those with predominantly respiratory manifestations (n = 15). Two patients (2.7%) died, and both had severe underlying conditions. Five patients (6.7%), all from cluster 1, developed coronary aneurysms. Conclusion: There were a high proportion of patients with severe respiratory involvement and positive RT-PCR SARS-CoV-2 and very few cases of coronary aneurysms in our study which suggests that a high proportion of the children had severe acute COVID-19. The clinical manifestations and outcomes are comparable to previously reported international studies.

Implementation of diagnostic screening for congenital heart disease in Hidalgo, Mexico.

Objective: Implementing screening through pulse oximetry (PO) and a knowledge management model (KMM) for early detection of life-threatening congenital heart disease (CHD) in the neonatal period. Material and methods: Pilot study of PO implementation supported by clinical criteria performed in newborns at two public hospitals of Hidalgo State. Those who tested positive were referred for echocardiography and those diagnosed with critical CHD (CCHD) were referred to specialized hospitals for treatment. Results: 1748 newborns were screened: 29 positive, 62% with CHD and 13.8% with CCHD, one death, three referrals to palliative treatment. Conclusion: PO as a method of screening helps in early diagnosis of CHD added to clinical and echocardiography studies. KMM fosters innovation and resource management.

Objetivo: Implementar el tamizaje mediante la oximetría de pulso (OP) y un modelo de gestión del conocimiento (MGC) para la detección oportuna de cardiopatías congénitas (CC) que amenazan la vida en el período neonatal. Material y métodos: Estudio piloto de implementación de OP apoyado en criterios clínicos, realizado en recién nacidos (RN) de dos hospitales públicos de Hidalgo. Los pacientes que resultaron positivos fueron objeto de ecocardiografía (EC) y los diagnosticados con cardiopatías congénitas críticas (CCC) se refirieron a tratamiento. Resultados: Se tamizó a 1,748 RN (29 positivos), CC en 62% y CCC en 13.8 %, 1 muerte y 3 programados para operación paliativa. Conclusiones: La OP ayuda en el diagnóstico de CC en combinación con criterios clínicos y EC. Un MGC favorece la innovación y la gestión de recursos.

Subepicardial aneurysm: echocardiographic evaluation and evolution.

Subepicardial aneurysms (SEA) are an infrequent and serious form of subacute cardiac rupture complicating myocardial infarction. An early diagnosis and surgical repair may be life saving. SEA comprise an abrupt interruption of the myocardium, with a narrow neck and thin wall containing only the epicardium. It may progress to fatal cardiorrhexis. We describe the echocardiographic evolution of this type of cardiac rupture and the contribution of contrast-enhanced echocardiography. A possible pathophysiological mechanism is proposed.

[Echocardiographic assessment of ventricular synchrony. Implications to patient selection and treatment outcome]. / Evaluación ecocardiográfica de la sincronía ventricular. Implicaciones en la selección de pacientes y en los resultados del tratamiento.

Heart failure is one of the most prevalent diseases in industrialized countries. Up to 30% of the patients with advanced heart failure present disturbances in intra-ventricular conduction, and this produce asynchrony of ventricular contractility, leading to further deterioration in heart function. Cardiac resynchronization (TRC) is an increasingly important therapeutic option for a subgroup of patients with heart failure. Several methods have been show to be useful in study the mechanical asynchrony. However, there are discrepancies between the results of the different methods. The echocardiography provides the best parameters in predicting a good response.

Three-dimensional transesophageal echocardiography of the atrial septal defects.

Transesophageal echocardiography has advantages over transthoracic technique in defining morphology of atrial structures. Even though real time three-dimensional echocardiographic imaging is a reality, the off-line reconstruction technique usually allows to obtain higher spatial resolution images. The purpose of this study was to explore the accuracy of off-line three-dimensional transesophageal echocardiography in a spectrum of atrial septal defects by comparing them with representative anatomic specimens.

[Anatomic spectrum between complete and partial atrioventricular septal defect. Two and three-dimensional echocardiography approach]. / Espectro anatómico entre el defecto de la tabicación atrioventricular completo y parcial. Evaluación con ecocardiografía bi y tridimensional.

INTRODUCTION: It has been postulated that there is a morphogenetic relation between the atrioventricular septal defect (AVSD) type A of Rastelli and the type of two separated orifices, this so called partial forms, existent between both types a spectrum of anatomical forms in which interchordal spaces determinate the ventricular septal defects (VSD) size to forms in which the VSD is closed by fusion of the left septal valves to the crest of ventricular septum. METHODS: We present five patients which illustrates the variability of the atrioventricular defect by means of two dimensional and three-dimensional echocardiography. In each case was made a transesophagic echocardiogram using three-dimensional reconstruction with an Echo-Scan system (4.0 TomTec Gmb version, Munich, Germany). RESULTS: It was observed the following spectrum of atrioventricular defect: one patient had a complete closure of the VSD by the insertion of the left septal valves to the interventricular septal crest. One patient has a partially closed VSD. The last 3 patients had a large VSD with a large shunt and high pulmonary pressure. In those patients in whom the VSD was completely or partially closed, the hemodynamic behavior depended of the interatrial shunt and the regurgitation of the atrioventricular valve. They didn't present pulmonary hypertension, what allowed them to be less symptomatic. CONCLUSIONS: The three-dimensional echocardiographic study of the spectrum of AVSD type A of Rastelli, defines accurately the valve components and septal structures, so we can understand the transition between complete and partial forms. This difference determines the clinical evolution of the patients.

[Tetralogy of fallot and total anomalous pulmonary venous drainage to coronary sinus. Case report]. / Tetralogía de Fallot con conexión anómala total de venas pulmonares a seno coronario. Reporte de un caso con esta rara asociación.

We report the case of an infant 3 months old with a rare association, tetralogy of Fallot with total anomalous pulmonary veins connection the diagnosis was made by echocardiography and a successful complete reparation was achieved.

[Adverse reaction to food additives in a pediatric patient]. / Reacción adversa por aditivos alimentarios en un paciente pediátrico.

BACKGROUND: Food additives are intentionally-added ingredients in order to modify physical, chemical, biological, or sensory characteristics of foods. Allergic reactions caused by additives are uncommon in children, and their prevalence is not known; however, they can be severe. CASE REPORT: An 8-year-old male presented with anaphylaxis and recurrent anaphylactic shocks due to multiple triggering factors such as food additives and medications. Point-of-care skin tests were performed with several additives, with positive results. Personalized emergency treatment was indicated in view of the possibility of anaphylaxis (adrenaline, diphenhydramine and dexamethasone) and environmental care for aeroallergens. Owing to a history of adverse reaction to salbutamol (giant or generalized urticaria), formoterol dry powder was indicated, which was well tolerated. Organic food exclusive consumption was recommended. CONCLUSIONS: The diagnosis of allergy to additives should be suspected when the patient has a suggestive medical history, allergy to multiple foods or medications, reaction with manufactured foods, unrelated to organic products.

Antecedentes: Los aditivos alimentarios son ingredientes agregados intencionalmente para modificar las características físicas, químicas, biológicas o sensoriales de los alimentos. Las reacciones alérgicas por aditivos son poco frecuentes en niños y se desconoce su prevalencia, sin embargo, pueden ser severas. Reporte de caso: Varón de ocho años que sufrió anafilaxia y choques anafilácticos recurrentes por múltiples desencadenantes como aditivos de alimentos y medicamentos. Se realizaron pruebas cutáneas de lectura rápida a varios aditivos, con resultados positivos. Se indicó tratamiento de urgencia personalizado ante la eventualidad de anafilaxia (adrenalina, difenhidramina y dexamentasona) y cuidado ambiental para control de aeroalérgenos. Debido al antecedente de reacción adversa al salbutamol (urticaria gigante o generalizada) se indicó formoterol en polvo seco, el cual fue bien tolerado. Se recomendó el consumo exclusivo de comidas orgánicas. Conclusiones: El diagnóstico de alergia a los aditivos debe sospecharse cuando el paciente presenta historia clínica sugerente, alergia a múltiples alimentos o fármacos, reacción con alimentos manufacturados, sin relación con productos orgánicos.