Severe adenovirus infection outbreak in Colombia: Experience from a tertiary pediatric hospital in 2022. / Brote de adenovirus grave en Colombia: experiencia de un hospital pediátrico de tercer nivel en 2022

Introduction. During the SARS-CoV-2 pandemic, many countries experienced decreased respiratory virus circulation, followed by an out-of-season outbreak. In a pediatric hospital in Colombia, we observed a surge in severe adenovirus infections, leading to concerns about the impact of eased public health restrictions and immune debt in children under five years old. Objective. To describe the clinical characteristics of patients with severe adenovirus infection in a pediatric hospital in Colombia. Materials and methods. We reviewed the data of 227 patients with severe adenovirus infection at the Fundación Hospital Pediátrico La Misericordia. Results. A total of 196 patients were included in this study. The median age was two years, and 62% were male. Adenoviruses were isolated from all patients' samples. Ninetyseven percent were admitted to the pediatric intensive care unit, 94% required respiratory support, and the in-hospital lethality rate was 11%. Conclusion. In 2022, there was an outbreak of severe adenovirus infections, affecting mainly children under five years of age, with higher-than-usual mortality.

Introducción. Durante la pandemia por SARS-CoV-2, muchos países evidenciaron una disminución en la circulación de virus respiratorios, seguida por un brote fuera de la temporada esperada. En un hospital de Colombia, se observó un aumento en los casos de infección grave por adenovirus, lo cual generó preocupación sobre el impacto que tuvo la disminución de los cuidados establecidos durante pandemia y la posible deuda inmunológica en niños menores de cinco años. Objetivo. Describir las características clínicas de los pacientes con infección grave por adenovirus en un hospital pediátrico de Colombia. Materiales y métodos. Se revisaron 227 pacientes con infección grave por adenovirus en la Fundación Hospital Pediátrico La Misericordia, desde el 1° de enero hasta el 31 de diciembre de 2022. Resultados. El estudio incluyó 196 casos. La edad media de los pacientes fue de dos años y el 62 % eran de sexo masculino. Los adenovirus se aislaron a partir de las muestras de todos los pacientes. El 97 % de los pacientes ingresó a la unidad de cuidados intensivos, el 94 % requirió soporte ventilatorio y la tasa de mortalidad fue del 11 %. Conclusiones. En el 2022 hubo un brote de adenovirus que afectó principalmente a los niños menores de cinco años, con una mortalidad mayor a lo reportado con anterioridad en Colombia.

STK4 deficiency and epidermodysplasia verruciformis-like lesions: A case report.

Serine/threonine kinase 4 deficiency (STK4 or MST1, OMIM:614868) is an autosomal recessive (AR) combined immunodeficiency that can present with skin lesions such as epidermodysplasia verruciformis-like lesions (EVLL). Herein, we describe a 17-year-old male patient born from consanguineous parents presenting with recurrent respiratory infections, verruciform plaques, poikiloderma, chronic benign lymphoproliferation, and Sjögren syndrome with suspected interstitial lymphocytic pneumonia.

Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.

BACKGROUND AND OBJECTIVES: Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. METHODS: We reviewed our patients with G6PC3 deficiency diagnosed along the last decade in Mexico; we also searched the PubMed/Medline database for the terms ('G6PC3 deficiency' OR 'Dursun syndrome' OR 'Severe congenital neutropenia type 4'), and selected articles published in English from 2009 to 2020. RESULTS: We found 89 patients reported from at least 14 countries in 4 continents. We describe five new cases from Mexico. Of the 94 patients, 56% are male, 48% from Middle East countries and none of them had adverse reactions to live vaccines; all presented with at least 1 severe infection prior to age 2. Seventy-five per cent had syndromic features, mainly atrial septal defect in 55% and prominent superficial veins in 62%. CONCLUSIONS: With a total of 94 patients reported in the past decade, we delineate the most frequent laboratory and genetic features, their treatment and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

Errores innatos de la inmunidad: ¿Qué debe saber y cuándo debe sospechar el otorrinolaringólogo? / Inborn errors of immunity: What should the otolaryngologist know, and when to suspect them?

Introducción: Los errores innatos de la inmunidad, previamente conocidos como inmunodeficiencias primarias, son un grupo heterogéneo de patologías cuya presentación clínica incluye infecciones recurrentes, persistentes o refractarias al tratamiento en el campo de la otorrinolaringología. Materiales y métodos: Se realizó una revisión narrativa de la literatura a partir de la búsqueda de documentos en PUBMED y EMBASE. Discusión y conclusiones: Los pacientes con sospecha de error innato de la inmunidad requieren un diagnóstico temprano con el fin de disminuir las complicaciones a largo plazo, por lo que la valoración y el abordaje inicial desempeñan un papel fundamental en el reconocimiento de estas enfermedades.

Introduction: Inborn errors of immunity, previously known as primary immunodeficiencies, are a heterogeneous group of pathologies whose clinical presentation includes recurrent, persistent and/or refractory infections to treatment in otorhinolaryngology. Materials and methods: Narrative review of the literature was carried out from the search for articles in PUBMED and EMBASE. Discussion and conclusions: Patients with suspected inborn error of immunity require an early diagnosis to reduce long-term complications; the initial assessment and approach play a fundamental role in the recognition of these diseases

Enfermedad de Kawasaki con manifestaciones asociadas graves y síndrome de activación macrofágica en un paciente pediátrico / Kawasaki disease with severe manifestations and macrophage activation syndrome in a pediatric patient

La enfermedad de Kawasaki es una vasculitis febril, aguda y multisistémica, que afecta, principalmente, a niños menores de 5 años. Se describen las características clínicas, la evolución y las consideraciones terapéuticas en un paciente con diagnóstico de enfermedad de Kawasaki completo con manifestaciones multisistémicas graves, dentro de las cuales se resalta el síndrome de activación de macrófagos, que representa una complicación inusual y potencialmente mortal de la enfermedad

Kawasaki disease is a febrile, acute and multisystemic vasculitis that mainly affects children under 5 years of age. We describe the clinical characteristics, evolution and therapeutic considerations in a patient with a diagnosis of complete Kawasaki disease with severe multisystem manifestations, among which stands out the macrophage activation syndrome, which represents an unusual and potentially life-threatening complication of the illness

[Kawasaki disease with severe manifestations and macrophage activation syndrome in a pediatric patient]. / Enfermedad de Kawasaki con manifestaciones asociadas graves y síndrome de activación macrofágica en un paciente pediátrico.

Kawasaki disease is a febrile, acute and multisystemic vasculitis that mainly affects children under 5 years of age. We describe the clinical characteristics, evolution and therapeutic considerations in a patient with a diagnosis of complete Kawasaki disease with severe multisystem manifestations, among which stands out the macrophage activation syndrome, which represents an unusual and potentially life-threatening complication of the illness.

La enfermedad de Kawasaki es una vasculitis febril, aguda y multisistémica, que afecta, principalmente, a niños menores de 5 años. Se describen las características clínicas, la evolución y las consideraciones terapéuticas en un paciente con diagnóstico de enfermedad de Kawasaki completo con manifestaciones multisistémicas graves, dentro de las cuales se resalta el síndrome de activación de macrófagos, que representa una complicación inusual y potencialmente mortal de la enfermedad.

Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

BACKGROUND: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. METHODS: Clinical and radiological data were collected from patient's medical charts. Flow cytometry was performed to characterize the immunological features with special focus in regulatory T cells (Tregs). RESULTS: A 16-year-old girl with Kabuki syndrome and a 12-year-old boy, both with a CVID-like humoral immunodeficiency on immunoglobulin replacement treatment, developed during follow-up an inflammatory complication radiologically, clinically, and histologically compatible with GLILD. They required treatment, and sirolimus was started, with very good response and no serious side effects. CONCLUSIONS: These 2 cases provide insight into the underlying local and systemic immune anomalies involved in the development of GLILD, including the possible role of Tregs. Combined chemotherapy is commonly used as treatment for GLILD when steroids fail, but there have been some reports of successful monotherapy. As far as we know, these are the first 2 GLILD patients treated successfully with sirolimus, suggesting the advisability of further study of mTOR inhibitors as a more targeted treatment for GLILD, if impairment in Tregs is demonstrated.

Bloqueo auriculoventricular fetal completo: enfoque diagnóstico y terapéutico. Reporte de caso en Bogotá, Colombia, y revisión de la literatura / Complete foetal atrioventricular block: diagnostic and therapeutic approach. Case report in Bogotá, Colombia, and review of the literature

RESUMEN Objetivo: reportar un caso de bloqueo auriculoventricular completo congénito y realizar una revisión de la literatura del diagnóstico y tratamiento. Materiales y métodos: se reporta el caso de una gestante de 27 años quien consulta a un hospital general de alto nivel de complejidad, con un embarazo de 33 semanas, con feto único, con diagnóstico de bloqueo auriculoventricular completo y cardiomiopatía dilatada secundaria. Se inició manejo prenatal con betamimético con pobre respuesta, por lo cual fue necesario finalizar el embarazo. El recién nacido requiere implantación de marcapasos ventricular en el primer día de vida con excelentes resultados en el seguimiento a un año. Se realiza revisión de la literatura publicada en las bases de datos: Medline vía PubMed, Lilacs y SciELO mediante los términos: "fetal complete atrioventricular block", "congenital complete heart block", con límites de año de 2000 a 2016, en español e inglés. Resultados: se obtuvieron 21 publicaciones; siete reportes de caso, diez revisiones de literatura, cuatro estudios de cohorte. El diagnóstico se basa en la ecocardiografía fetal para determinar el intervalo PR, la relación auriculoventricular y la detección de anomalías intracardiacas, entre las que se encuentran: regurgitación valvular, hiperecogenicidad miocárdica/valvular-fibroelastosis endocárdica, contracciones atriales prematuras y efusión pericárdica. Respecto al tratamiento prenatal, los medicamentos más utilizados son los corticoesteroides y los betamiméticos. El tratamiento de la bradiarritimia severa refractaria neonatal puede requerir la implantación de un marcapaso como manejo definitivo. Conclusión: el bloqueo AV congénito de tercer grado requiere diagnóstico temprano y tratamiento oportuno, ya que se acompaña de alta morbimortalidad perinatal. Se requieren estudios con mayor calidad metodológica que permitan avalar otras opciones y esquemas terapéuticos prometedores.

ABSTRACT Objective: To report a case of complete congenital atrioventricular block and to review the literature on diagnosis and treatment. Materials and methods: Case report of a 27-year-old pregnant woman who came to a high complexity general hospital with a 33-week singleton gestation and a diagnosis of complete atrioventricular block and secondary dilated cardiomyopathy. Response to initial prenatal management with beta-mimetic therapy was poor, and the woman had to be taken to Cesarean section. The newborn required implantation of a ventricular pacemaker on the first day of life, with excellent results at 1-year follow-up. A review of the literature published in Medline, Lilacs and SciELO databases was conducted using the terms "foetal complete atrioventricular block", "congenital complete heart block," limited to articles published between 2000 and 2016 in Spanish and English. Results: Overall, 21 publications were retrieved: seven case reports, ten reviews of the literatura and four cohort studies. Diagnosis is based on the foetal echocardiographic scan to determine the PR interval and the atrioventricular ratio, and to detect intracardiac abnormalities, including valvular regurgitation, myocardial/valvular hyperechogenicity, endocardial fibroelastosis, premature atrial contractions, and pericardial effusion. In terms of prenatal treatment, corticosteroids and beta-mimetics are the most widely used medications. Treatment of severe neonatal refractory bradyarrhythmia may require pacemaker implantation as definitive management. Conclusion: Congenital third-degree AV bock requires early diagnosis and timely treatment, because associated perinatal morbidity and mortality are high. Studies with better methodological quality are needed in order to endorse other promising therapeutic options and approaches.