Progressive multiple organ dysfunction syndrome in adolescent pregnancy: Case report. / Síndrome de disfunción orgánica múltiple progresiva en embarazo adolescente: reporte de caso clínico.

Introduction: Adolescent pregnancy is a physiological process, but it can evolve with premature delivery, severe obstetric or clinical pathologies, mortality, or sequelae for mother and child. We aim to report the progressive multiple organ dysfunction syndrome secondary to pyelonephritis and sepsis during prepartum, delivery, and puerperium of adolescent pregnancy and its sequelae. Case report: A 14-year-old adolescent with a pregnancy of 27 weeks of gestation controlled from 8 to 25 weeks. She was urgently admitted to the high-risk obstetric unit due to signs of preterm labor, pyelonephritis, and acute renal injury. Treatment was started with intravenous cefazolin and betamethasone for lung maturation, oral nifedipine, and magnesium sulfate to prevent preterm labor and fetal neuronal protection, evolving with sustained hypotension and septic shock. At 13 hours after admission, she was transferred to the intensive care unit, where she evolved with persistent and progressive multiple organ failure for 28 days, progressively affecting the cardiovascular, hematologic, respiratory, and gastrointestinal systems. She was treated with vasoactive drugs, antibiotics, invasive mechanical ventilation, ultrafiltration, hemodialysis, pleural drainage, and cholecystectomy. Twenty-four hours after admission to intensive care, preterm vaginal delivery occurred. She developed chronic kidney disease stage KDIGO 5 (Kidney Disease Improving Global Outcomes V) and is awaiting renal transplantation. On the other hand, the preterm newborn presented severe neonatal asphyxia, bronchopulmonary dysplasia, and hypoxic-ischemic encephalopathy. Conclusion: Complicated adolescent pregnancy is a health emergency. Avoiding delays in the diagnosis and treatment of pyelonephritis, septic shock and the progressive multiple organ dysfunction syndrome can prevent mortality and permanent sequelae, both maternal and neonatal.

Introducción: El embarazo adolescente es un proceso fisiológico, pero puede evolucionar con parto prematuro, patologías obstétricas o médicas graves, mortalidad o secuelas para madre e hijo/a. Nuestro objetivo es reportar el síndrome de disfunción orgánica múltiple progresiva secundario a pielonefritis y sepsis ocurrido durante el preparto, parto y puerperio de embarazo adolescente y sus secuelas. Caso clínico: Adolescente de 14 años, con embarazo de 27 semanas de gestación controlado desde las 8 hasta 25 semanas. Ingresó de urgencia en unidad de alto riesgo obstétrico por signos de parto prematuro, pielonefritis e injuria renal aguda. Se inició tratamiento con cefazolina intravenosa y betametasona para maduración pulmonar, nifedipino oral y sulfato de magnesio para prevención del parto prematuro y protección neuronal fetal, evolucionando con hipotensión sostenida y shock séptico. A las 13 horas después del ingreso, fue trasladada a unidad de paciente crítico donde evolucionó con falla orgánica múltiple persistente y progresiva durante 28 días, afectando sucesivamente los sistemas cardiovascular, hematológico, respiratorio y gastrointestinal. Se trató con drogas vasoactivas, antibióticos, ventilación mecánica invasiva, ultrafiltración, hemodiálisis, drenaje pleural y colecistectomía. A las 24 horas de ingreso a cuidado intensivo, ocurrió el parto prematuro vaginal. La embarazada desarrolló enfermedad renal crónica etapa KDIGO 5 ( V) y se encuentra en espera de trasplante renal. Por su parte, la recién nacida prematura viva presentó asfixia neonatal severa, displasia broncopulmonar y encefalopatía hipóxico-isquémica.El embarazo adolescente complicado es una emergencia sanitaria. El diagnóstico y manejo oportuno de la pielonefritis, shock séptico y disfunción orgánica asociada a la sepsis pueden evitar mortalidad y secuelas permanentes materna y/o neonatal.

Síndrome de disfunción orgánica múltiple progresiva en embarazo adolescente: reporte de caso clínico / Progressive multiple organ dysfunction syndrome in adolescent pregnancy: Case report

Introducción El embarazo adolescente es un proceso fisiológico, pero puede evolucionar con parto prematuro, patologías obstétricas o médicas graves, mortalidad o secuelas para madre e hijo/a. Nuestro objetivo es reportar el síndrome de disfunción orgánica múltiple progresiva secundario a pielonefritis y sepsis ocurrido durante el preparto, parto y puerperio de embarazo adolescente y sus secuelas. Caso clínico Adolescente de 14 años, con embarazo de 27 semanas de gestación controlado desde las 8 hasta 25 semanas. Ingresó de urgencia en unidad de alto riesgo obstétrico por signos de parto prematuro, pielonefritis e injuria renal aguda. Se inició tratamiento con cefazolina intravenosa y betametasona para maduración pulmonar, nifedipino oral y sulfato de magnesio para prevención del parto prematuro y protección neuronal fetal, evolucionando con hipotensión sostenida y shock séptico. A las 13 horas después del ingreso, fue trasladada a unidad de paciente crítico donde evolucionó con falla orgánica múltiple persistente y progresiva durante 28 días, afectando sucesivamente los sistemas cardiovascular, hematológico, respiratorio y gastrointestinal. Se trató con drogas vasoactivas, antibióticos, ventilación mecánica invasiva, ultrafiltración, hemodiálisis, drenaje pleural y colecistectomía. A las 24 horas de ingreso a cuidado intensivo, ocurrió el parto prematuro vaginal. La embarazada desarrolló enfermedad renal crónica etapa KDIGO 5 ( V) y se encuentra en espera de trasplante renal. Por su parte, la recién nacida prematura viva presentó asfixia neonatal severa, displasia broncopulmonar y encefalopatía hipóxico-isquémica. Conclusiones El embarazo adolescente complicado es una emergencia sanitaria. El diagnóstico y manejo oportuno de la pielonefritis, shock séptico y disfunción orgánica asociada a la sepsis pueden evitar mortalidad y secuelas permanentes materna y/o neonatal.

Introduction Adolescent pregnancy is a physiological process, but it can evolve with premature delivery, severe obstetric or clinical pathologies, mortality, or sequelae for mother and child. We aim to report the progressive multiple organ dysfunction syndrome secondary to pyelonephritis and sepsis during prepartum, delivery, and puerperium of adolescent pregnancy and its sequelae. Case report A 14-year-old adolescent with a pregnancy of 27 weeks of gestation controlled from 8 to 25 weeks. She was urgently admitted to the high-risk obstetric unit due to signs of preterm labor, pyelonephritis, and acute renal injury. Treatment was started with intravenous cefazolin and betamethasone for lung maturation, oral nifedipine, and magnesium sulfate to prevent preterm labor and fetal neuronal protection, evolving with sustained hypotension and septic shock. At 13 hours after admission, she was transferred to the intensive care unit, where she evolved with persistent and progressive multiple organ failure for 28 days, progressively affecting the cardiovascular, hematologic, respiratory, and gastrointestinal systems. She was treated with vasoactive drugs, antibiotics, invasive mechanical ventilation, ultrafiltration, hemodialysis, pleural drainage, and cholecystectomy. Twenty-four hours after admission to intensive care, preterm vaginal delivery occurred. She developed chronic kidney disease stage KDIGO 5 (Kidney Disease Improving Global Outcomes V) and is awaiting renal transplantation. On the other hand, the preterm newborn presented severe neonatal asphyxia, bronchopulmonary dysplasia, and hypoxic-ischemic encephalopathy. Conclusion Complicated adolescent pregnancy is a health emergency. Avoiding delays in the diagnosis and treatment of pyelonephritis, septic shock and the progressive multiple organ dysfunction syndrome can prevent mortality and permanent sequelae, both maternal and neonatal.

Estudio transversal en profesionales de la salud sobre aplicación y percepción de conocimientos bioéticos adquiridos en urgencias pediátricas / Estudio transversal en profesionales de la salud sobre aplicación y percepción de conocimientos bioéticos adquiridos en urgencias pediátricas

Introducción En comparación con ciencias clínicas básicas o aplicadas, la bioética es considerada una disciplina secundaria y subutilizada en la práctica diaria. Sin embargo, el razonamiento ético es indispensable para la calidad del cuidado. Existen pocos estudios sobre bioética en unidades de emergencia pediátrica. Nuestro objetivo fue evaluar la percepción sobre la importancia y la suficiencia del conocimiento teórico adquirido y la aplicación de los principios bioéticos en casos estandarizados. Métodos Realizamos un estudio descriptivo transversal en profesionales médicos y de enfermería que se desempeñan en unidades de emergencia pediátrica de Puerto Montt. Mediante una encuesta, evaluamos la percepción de la importancia y suficiencia del conocimiento bioético obtenido y la aplicación de los principios bioéticos en casos hipotéticos, pero probables, en la atención de urgencias pediátricas. Resultados De una población total de 50 médicos y 53 enfermeras, participaron en nuestro estudio 30 médicos (60%) y 20 enfermeras (37,7%). La mayoría reportó formación ética en pregrado (84%). Una minoría reportó formación durante la práctica (20%). Sin embargo, sólo 60% percibía tener conocimientos suficientes de bioética y 72% la consideraba importante para la práctica diaria. Además, al aplicar los principios de Beauchamp y Childress a casos clínicos estandarizados, el 82,7% no reconoció el principio de justicia y solo 50% reconoció los principios de autonomía y no maleficencia. Conclusión Aunque la mayoría de los profesionales de la salud tienen formación en bioética, el aprendizaje muchas veces se considera insuficiente y no se incorpora a la práctica diaria en las unidades de emergencia pediátrica.

Background Compared to basic or applied clinical sciences, bioethics is frequently considered as a secondary discipline and underutilized in daily practice. However, ethical reasoning is indispensable for the quality of care. There are few studies on bioethics in pediatric emergency units. Our objective was to evaluate the perception of the acquired bioethical knowledge and the application of bioethical principles in standardized cases. Methods We conducted a cross-sectional descriptive study in medical and nursing professionals working at pediatric emergency units in Puerto Montt. Through a survey, we assessed the perception of the sufficiency of the acquired bioethics knowledge and the application of bioethical principles on hypothetical, but probable cases in emergency pediatric care. Results Of a total population of 50 physicians and 53 nurses, 30 physicians (60.0%) and 20 nurses (38.7%) participated in our study. The majority reported ethics training in undergraduate education: 84%. A minority reported training during practice: 20%. However, only 60.0% perceived having sufficient knowledge of bioethics and 72.0% considered it important for daily practice. Further, when applying the principles of Beauchamp and Childress to standardized clinical cases, 82.7% did not recognize the justice principle and only 50.00% the principles of autonomy and nonmaleficence. Conclusion Although most health professionals undergo bioethics training, learning is often considered insufficient and not incorporated into daily practice at pediatric emergency units.

Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020 / Severe combined immunodeficiency, report of Chilean patients diagnosed during the 1999-2020 period

INTRODUCCIÓN: La inmunodeficiencia combinada severa (IDCS) corresponde a una de las formas más graves de inmunodeficiencia primaria, existiendo escasos datos nacionales sobre ésta. OBJETIVO: describir la epidemiología, complicaciones, pronóstico y uso de la vacuna BCG en pacientes chilenos con IDCS. PACIENTES Y MÉTODO: Estudio retrospectivo de pacientes diagnosticados con IDCS entre los años 1999 y 2020 por médicos inmunólogos a lo largo de Chile. El diagnóstico de IDCS se realizó conforme a los criterios propuestos por Shearer: linfocitos T (CD3+) < 300 células/μL y prolife ración 10% del límite de normalidad en respuesta a fitohemaglutinina o presencia de linfocitos T de origen materno. Se obtuvieron de la ficha clínica los datos correspondientes a: sexo, edad al diagnóstico, consanguinidad, región de origen, subpoblaciones linfocitarias, diagnóstico genético, complicaciones infecciosas y no infecciosas, vacunación BCG y sus complicaciones, edad de deriva ción al centro de TPH y causa de mortalidad no relacionada al TPH. RESULTADOS: se diagnosticaron 25 casos de IDCS en 22 familias entre los años 1999-2020. 78% varones, la edad media a la primera manifestación fue 2.3 meses (0-7), mientras que la edad media al diagnóstico fue de 3.4 meses (0 7). Un 16% de los casos tenía un antecedente familiar de IDCS. Un 40% de los casos fueron diag nosticados en la Región Metropolitana. El inmunofenotipo más frecuente fue T-B-NK+ (48%). Se realizaron estudios genéticos en 69,5% de los casos, siendo los defectos genéticos en RAG2 (39%) la causa más frecuente. Un 88% de los casos recibió la vacuna Bacillus Calmette-Guerin (BCG) previo al diagnóstico, incluidos 2 pacientes con historia familiar positiva, 36% de los vacunados experimentó complicaciones de la BCG. La edad media a la derivación a trasplante fue de 7,4 meses (5-16). De los 25 pacientes, 11 fallecieron previo a la derivación a un centro de trasplante. CONCLUSIÓN: En Chile existe un retraso clínicamente significativo entre las primeras manifestaciones y el diagnóstico de IDCS, así como un importante retraso en la derivación a centros de trasplante. La mayoría de los pacientes con IDCS reciben la vacuna BCG, pese a tener antecedentes familiares, y experimentan frecuentemente complicaciones de la vacuna.

INTRODUCTION: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency. To date, there is little local information about this disease. OBJECTIVE: To describe the epidemiology, complications, prognosis, and use of the BCG vaccine in Chilean patients with SCID. PATIENTS AND METHOD: Retrospective review of the clinical records of patients diagnosed with SCID by clinical immunologists between 1999 and 2020 throughout Chile. SCID was diagnosed according to the cri teria proposed by Shearer: T lymphocytes (CD3+) < 300 cells/μL and proliferation 10% of the limit of normality in response to phytohemagglutinin or presence of T lymphocytes of maternal origin. Data collected from the clinical records were: sex, age at diagnosis, consanguinity, region of origin, lymphocyte subpopulations, genetic diagnosis, infectious and non-infectious complications, BCG vaccination and its complications, age at referral to the bone marrow transplant (BMT) center, and cause of non-BMT-related mortality. RESULTS: Between 1999 and 2020, 25 patients were diagnosed with SCID. 78% of them were male, mean age at first manifestation of the disease was 2.3 months (0-7), while the mean age at diagnosis was 3.4 months (0-7). 16% of patients had a family history of SCID. 40% of cases were diagnosed within the Metropolitan Region. The most frequent immuno- phenotype was T-B-NK+ SCID (48%). Genetic studies were done in 69.5% of cases, mutations in the RAG2 gene were the most common etiology of SCID (39%). 88% of SCID patients received the Bacillus Calmette-Guerin (BCG) vaccine before diagnosis, including 2 cases with a known family history of SCID. 36% of those who received the vaccine had BCG-related complications. The mean age at referral to a bone marrow transplant center was 7.4 months (5-16). 11/25 patients died before being transferred to a transplant center. DISCUSSION: There is a clinically significant delay between the first manifestations and the diagnosis of SCID in Chilean patients, as well as an important time gap between the diagnosis of SCID and referral to a center for BMT. Most SCID cases in Chile receive the BCG vaccine, despite a known family history of the disease, and frequently develop vaccine-related complications.

Cambio de diagnóstico y de categoría diagnóstica en pacientes con artritis idiopática juvenil en 7 años de seguimiento / Change of diagnosis and diagnostic category in patients with juvenile idiopathic arthritis within 7 years of follow-up

Resumen: Introducción: Al menos 50% de los pacientes pediátricos portadores de artritis idiopática juvenil (AIJ) continuará control en reumatología adulto. La clasificación de la Liga Internacional de Asociaciones de Reumatología (ILAR) vigente, actualmente en revisión, difiere de la clasificación de las artritis inflamatorias del adulto. Se ha reportado cambios de categoría en 10,8% de los pacientes durante el seguimiento. Objetivo: Analizar los pacientes con AIJ seguidos al menos 7 años para objetivar cambios de diagnós tico en la transición, e identificar factores de mal pronóstico funcional. Pacientes y Método: Estudio retrospectivo en base a registros clínicos. Se incluyó a la totalidad de los pacientes con AIJ controla dos en policlínico pediátrico del Hospital de Puerto Montt entre el año 2005 y 2017, que cumplieron siete o más años de seguimiento. Se realizó análisis descriptivo en base a variables clínicas: categoría diagnóstica, tiempo de evolución al diagnóstico, actividad clínica y serológica, y tiempo de evolución al inicio de la terapia farmacológica. Resultados: Se evaluaron 18 pacientes, 3 Oligo-articular (OA) persistente, 1 OA extendida, 4 Poli-articular (PA) factor reumatoide (FR) negativo, 4 PA FR positivo, 5 Sistémicas, 1 Psoriática, todos con seguimiento mayor a 7 años. Once de 18 niños fueron transfe ridos a adultos. Tres de 11 cambiaron de diagnóstico a Artritis Reumatoide (AR) más otra enferme dad autoinmune: Síndrome de Sjögren + Lupus eritematoso sistémico, Púrpura trombocitopénico inmune, Enfermedad autoinmune no clasificada y cinco de 11 niños de categoría ILAR: OA a Artritis reumatoide juvenil, OA extendida a PA FR negativo, 3 Sistémicas a PA FR negativo. Edad de inicio, formas poli-articulares, retrasos en diagnóstico y comienzo de terapia se asociaron a secuelas e infla mación persistente. Conclusiones: Ocho de once pacientes transferidos cambiaron denominación diagnóstica y/o presentaron otras enfermedades autoinmunes. Algunos factores de mal pronóstico deben mejorar.

Abstract: Introduction: At least 50% of pediatric patients with Juvenile Idiopathic Arthritis (JIA) will require continued fo llow-up in adult rheumatology. The present International League of Associations for Rheumatology (ILAR) classification, currently under revision, differs from its classification of inflammatory arthritis in adults. Category changes have been reported in 10.8% of patients during follow-up. Objective: To analyze JIA patients in follow-up for at least 7 years to detect diagnosis changes during transition to adult care, identifying factors of poor functional prognosis. Patients and Method: Retrospective study based on medical records of JIA patients seen at the pediatric polyclinic of the Puerto Montt Hospital between 2005 and 2017, who were monitored for at least 7 years. Descriptive analysis was performed according to clinical variables: diagnostic category, evolution before diagnosis, clinical and serological activity, and evolution before starting drug therapy. Results: We evaluated 18 pa tients, corresponding to 3 patients with persistent oligoarticular arthritis (OA), 1 with extended OA, 4 with polyarticular arthritis (PA) rheumatoid factor (RF) negative, 4 with PA RF positive, 5 with syste mic JIA, and 1 with psoriatic arthritis, all have had follow-up more than 7 years. 11 out of 18 patients transitioned to adult care. Three out of 11 patients changed diagnosis to Rheumatoid Arthritis (RA) plus another autoimmune disease such as Sjögren's Syndrome + Systemic Lupus Erythematosus, Immune thrombocytopenia, or unclassified autoimmune disease, and 5 out of 11 children changed ILAR category from OA to Juvenile Rheumatoid Arthritis, extended OA to PA RF negative, and 3 from Systemic arthritis to PA RF negative. Age of onset, polyarticular forms, delay in diagnosis, and the start of therapy were associated with sequelae and persistent inflammation. Conclusions: Eight of the eleven JIA patients who transitioned to adult care changed their diagnosis or presented other autoimmune diseases. Some factors of poor prognosis must improve.

[Change of diagnosis and diagnostic category in patients with juvenile idiopathic arthritis within 7 years of follow-up]. / Cambio de diagnóstico y de categoría diagnóstica en pacientes con artritis idiopática juvenil en 7 años de seguimiento.

INTRODUCTION: At least 50% of pediatric patients with Juvenile Idiopathic Arthritis (JIA) will require continued fo llow-up in adult rheumatology. The present International League of Associations for Rheumatology (ILAR) classification, currently under revision, differs from its classification of inflammatory arthritis in adults. Category changes have been reported in 10.8% of patients during follow-up. OBJECTIVE: To analyze JIA patients in follow-up for at least 7 years to detect diagnosis changes during transition to adult care, identifying factors of poor functional prognosis. PATIENTS AND METHOD: Retrospective study based on medical records of JIA patients seen at the pediatric polyclinic of the Puerto Montt Hospital between 2005 and 2017, who were monitored for at least 7 years. Descriptive analysis was performed according to clinical variables: diagnostic category, evolution before diagnosis, clinical and serological activity, and evolution before starting drug therapy. RESULTS: We evaluated 18 pa tients, corresponding to 3 patients with persistent oligoarticular arthritis (OA), 1 with extended OA, 4 with polyarticular arthritis (PA) rheumatoid factor (RF) negative, 4 with PA RF positive, 5 with syste mic JIA, and 1 with psoriatic arthritis, all have had follow-up more than 7 years. 11 out of 18 patients transitioned to adult care. Three out of 11 patients changed diagnosis to Rheumatoid Arthritis (RA) plus another autoimmune disease such as Sjögren's Syndrome + Systemic Lupus Erythematosus, Immune thrombocytopenia, or unclassified autoimmune disease, and 5 out of 11 children changed ILAR category from OA to Juvenile Rheumatoid Arthritis, extended OA to PA RF negative, and 3 from Systemic arthritis to PA RF negative. Age of onset, polyarticular forms, delay in diagnosis, and the start of therapy were associated with sequelae and persistent inflammation. CONCLUSIONS: Eight of the eleven JIA patients who transitioned to adult care changed their diagnosis or presented other autoimmune diseases. Some factors of poor prognosis must improve.

[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period]. / Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020.

INTRODUCTION: Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency. To date, there is little local information about this disease. OBJECTIVE: To describe the epidemiology, complications, prognosis, and use of the BCG vaccine in Chilean patients with SCID. PATIENTS AND METHOD: Retrospective review of the clinical records of patients diagnosed with SCID by clinical immunologists between 1999 and 2020 throughout Chile. SCID was diagnosed according to the cri teria proposed by Shearer: T lymphocytes (CD3+) < 300 cells/µL and proliferation 10% of the limit of normality in response to phytohemagglutinin or presence of T lymphocytes of maternal origin. Data collected from the clinical records were: sex, age at diagnosis, consanguinity, region of origin, lymphocyte subpopulations, genetic diagnosis, infectious and non-infectious complications, BCG vaccination and its complications, age at referral to the bone marrow transplant (BMT) center, and cause of non-BMT-related mortality. RESULTS: Between 1999 and 2020, 25 patients were diagnosed with SCID. 78% of them were male, mean age at first manifestation of the disease was 2.3 months (0-7), while the mean age at diagnosis was 3.4 months (0-7). 16% of patients had a family history of SCID. 40% of cases were diagnosed within the Metropolitan Region. The most frequent immuno- phenotype was T-B-NK+ SCID (48%). Genetic studies were done in 69.5% of cases, mutations in the RAG2 gene were the most common etiology of SCID (39%). 88% of SCID patients received the Bacillus Calmette-Guerin (BCG) vaccine before diagnosis, including 2 cases with a known family history of SCID. 36% of those who received the vaccine had BCG-related complications. The mean age at referral to a bone marrow transplant center was 7.4 months (5-16). 11/25 patients died before being transferred to a transplant center. DISCUSSION: There is a clinically significant delay between the first manifestations and the diagnosis of SCID in Chilean patients, as well as an important time gap between the diagnosis of SCID and referral to a center for BMT. Most SCID cases in Chile receive the BCG vaccine, despite a known family history of the disease, and frequently develop vaccine-related complications.

[Toxocarosis and acalculous acute cholecystitis: Consequence or coincidence?]. / Toxocarosis y colecistitis aguda alitiásica: ¿consecuencia o coincidencia?

Human toxocarosis is a chronic larval parasitosis listed as one of the five most important neglected diseases by the CDC. The larvae can spread systemically and migrate to different tissues including liver and gallbladder. Acalculous acute cholecystitis (AAC) is a rare disease in children. The diagnosis is based on clinical parameters and imaging criteria. It has been reported in relation to sepsis, shock, trauma, burns, severe systemic diseases, congenital anomalies, infections and also in healthy children. We report a pediatric case of toxocarosis, with clinical symptoms and imaging criteria compatible with AAC treated medically, and discuss the relationship between toxocarosis and AAC based on published evidence.

Morfea o esclerodermia localizada juvenil: caso clínico / Morphea or juvenile localised scleroderma: Case report

Introducción: La morfea o esclerodermia localizada juvenil (ELJ) es una enfermedad autoinmune, inflamatoria, crónica, lenta y progresiva del tejido conectivo, de causa desconocida, que afecta preferentemente la piel y los tejidos subyacentes. Objetivos: Comunicar un caso de esclerodermia localizada juvenil en una escolar, y contribuir a un diagnóstico y tratamiento oportuno de esta patología. Caso clínico: Niña de 8 años con placas induradas hipopigmentadas, de distribución lineal en la extremidad superior derecha de 2 años de evolución y placas induradas hiperpigmentadas de textura acartonada, con áreas de piel adelgazada, blanquecina y edema en la pierna y el tobillo. Los elementos clínicos y los exámenes de apoyo diagnóstico, incluyendo la histología, fueron compatibles con ELJ lineal, panesclerótica. Se inició tratamiento inmunosupresor y simultáneamente realizó fisioterapia y terapia ocupacional intensivas. Conclusiones: Presentamos un caso de ELJ de tipo lineal y panesclerótico, en el que hubo retraso de 2 años en el diagnóstico, no obstante la respuesta al tratamiento inmunosupresor fue favorable según lo esperado.

Introduction: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. Objective: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. Clinical case: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. Conclusions: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.

Toxocarosis y colecistitis aguda alitiásica: ¿consecuencia o coincidencia? / Toxocarosis and acalculous acute cholecystitis: consequence or coincidence?

La toxocarosis humana es una parasitosis larvaria crónica catalogada dentro de las cinco enfermedades subestimadas más importantes por los CDC. Las larvas pueden diseminarse por vía sistémica y migrar a distintos tejidos (larva migrans visceral) incluyendo el hígado y vesícula biliar. La colecistitis aguda acalculosa (CAA) es una enfermedad rara en niños. El diagnóstico se basa en parámetros clínicos y criterios imagenológicos. Se ha asociado a sepsis, shock, trauma, quemaduras, enfermedades sistémicas graves, anomalías congénitas e infecciones, como también en niños sanos. Presentamos el caso de una toxocarosis infantil con síntomas clínicos y criterios imagenológicos compatibles con una CAA tratado médicamente, y discutir la relación entre ambos cuadros en base a la evidencia publicada.

Human toxocarosis is a chronic larval parasitosis listed as one of the five most important neglected diseases by the CDC. The larvae can spread systemically and migrate to different tissues including liver and gallbladder. Acalculous acute cholecystitis (AAC) is a rare disease in children. The diagnosis is based on clinical parameters and imaging criteria. It has been reported in relation to sepsis, shock, trauma, burns, severe systemic diseases, congenital anomalies, infections and also in healthy children. We report a pediatric case of toxocarosis, with clinical symptoms and imaging criteria compatible with AAC treated medically, and discuss the relationship between toxocarosis and AAC based on published evidence.

[Morphea or juvenile localised scleroderma: Case report]. / Morfea o esclerodermia localizada juvenil, caso clínico.

INTRODUCTION: Morphea or juvenile localised scleroderma (JLS) is an autoimmune, inflammatory, chronic, slowly progressive connective tissue disease of unknown cause that preferably affects skin and underlying tissues. OBJECTIVE: To report a case of Juvenil Localised scleroderma in an 8-year old girl, contributing to an early diagnosis and treatment. CLINICAL CASE: The case is presented of an 8 year-old girl who presented with indurated hypopigmented plaques, of linear distribution in the right upper extremity of two years onset, together with papery texture hyperpigmented indurated plaques with whitish areas of thinned skin in right lower extremity, and leg and ankle swelling. The clinical features and diagnostic tests, including histology were compatible with linear and pansclerotic JLS. She started with immunosuppressive therapy, physiotherapy, and occupational therapy. CONCLUSIONS: We report a case of linear and pansclerotic ELJ type, in which there was a 2 year delay in diagnosis, however the response to treatment was positive as expected.

Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.

Leucocyte adhesion deficiency (LAD) is a group of rare autosomal recessive (<1:1 000 000 births) inherited disorders characterised by immune deficiency and peripheral neutrophilia. Three types of LAD syndrome have been distinguished. LAD type 1 (LAD-I) is the most common. It results from a mutation in the integrin ß 2 (ITGB2) gene that codes the ITGB subunit (CD18 antigen). Since 1970, it has been reported in more than 300 children worldwide. It is characterised by delayed separation of the umbilical cord, recurrent bacterial and fungal infections, defective wound healing, blood neutrophilia and a high mortality rate at an early age. We report the second fatal case of an infant with LAD-I diagnosed in Chile, with developmental delay associated with a congenital cytomegalovirus infection. CD18/CD11 expression was normal. Genetic analysis of CD18 revealed a homozygous mutation in ITGB2, viz.c.1835G>T; p.C612F, and led us to suspect a biological parent other than the legal father and, therefore, an unwanted social situation.

[Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor ß1 deficiency: clinical experience of two familial and one sporadic case]. / Enfermedad por bacilo de Calmette-Guérin (BCG) y deficiencia del receptor ß-1 de interleuquina 12: Experiencia clínica de dos casos en una familia y un caso aislado.

BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-γ axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-Rß1 deficiency in 2 of 3 familial cases and a sporadic case.

Enfermedad por bacilo de Calmette-Guérin (BCG) y deficiencia del receptor β-1 de interleuquina 12: Experiencia clínica de dos casos en una familia y un caso aislado / Bacillus Calmette-Guérin (BCG) disease and interleukin 12 receptor β1 deficiency: Clinical experience of two familial and one sporadic case

BCG disease has been reported in primary and secondary immunodeficiency and as Mendelian Susceptibility to Mycobacterial Diseases (MSMD). Investigation of this syndrome has led to the identifications of a series of genetic, inherited defects in the IL-12/IFN-γ axis. MSMD-causing mutations have been found in seven autosomal and two X-linked genes. In these patients, local or disseminated vaccine BCG infections are common. We report a clinical series including two infants with left axillary adenitis ipsilateral to the site of neonatal BCG immunization; one of them member of a family with two previously reported cases and a single sporadic case. All of them were diagnosed sequentially in Puerto Montt, Chile. The aim of this report is to notify the first Chilean disseminated BCG patients without previous immunodeficiency, in whom it was possible to identify an underlying immunodeficiency, although specific tests for IL-12/IFN-γ axis was no performed in our country. Clinical suspicion and international collaboration permitted to confirm IL12-Rβ1 deficiency in 2 of 3 familial cases and a sporadic case.

La enfermedad por el bacilo de Calmette-Guérin (BCG) ha sido reportada en relación a inmunodeficiencias primarias, secundarias y en el síndrome clínico denominado susceptibilidad mendeliana a enfermedades micobacterianas. La investigación de este síndrome ha llevado a la identificación de defectos en el eje interleuquina (IL)- 12/ interferón gamma (IL-12/IFN-γ), habiéndose identificado hasta hoy mutaciones en siete genes autosómicos y dos ligados al cromosoma X. En estos pacientes, las infecciones localizadas o generalizadas por BCG vacunal son comunes. Reportamos una serie clínica constituida por dos lactantes con adenomegalia axilar izquierda recurrente secundaria a vacunación BCG al nacer; uno de ellos integrante de una familia con dos casos reportados previamente y un caso aislado, diagnosticados consecutivamente en Puerto Montt, Chile, con el objetivo de notificar los primeros casos chilenos de diseminación BCG en niños sin inmunodeficiencia previa conocida, en los que se logró identificar la deficiencia inmune subyacente pese a no disponer en el país del estudio específico del eje (IL-12/IFN-γ). La sospecha diagnóstica y colaboración internacional permitieron identificar en dos de los tres casos familiares y en el caso aislado, la deficiencia del receptor β1 de IL 12 (IL12Rβ1).

Autoimmune pulmonary proteinosis in a Chilean teenager, a rare aetiology of interstitial lung disease.

Interstitial lung disease (ILD) is rare and encompasses a heterogeneous group of diseases, and is even rarer in children than in adults. ILDs compromise more than 100 different entities, including pulmonary alveolar proteinosis (PAP). There are many causes of PAP in children, including surfactant protein gene mutations (SFTPB, SFTPC, ABCA3, TTF-1), GMCSF receptor mutations and antigranulocyte-macrophage colony-stimulating factor autoantibodies. We report a case of a 13-year-old Chilean girl who presented with an 8-month history of progressive exercise intolerance, fatigability and diminished school performance. Physical examination revealed resting tachypnoea, a few basal bilateral inspiratory crackles, and hypoxaemia on minimal exertion. Clinical suspicion and evaluation, including international collaboration, led to the diagnosis of autoimmune PAP and specific therapy for the condition.

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor ß1 deficiency.

BACKGROUND: Interleukin 12Rß1 (IL-12Rß1)-deficient patients are prone to clinical disease caused by mycobacteria, Salmonella, and other intramacrophagic pathogens, probably because of impaired interleukin 12-dependent interferon γ production. About 25% of patients also display mucocutaneous candidiasis, probably owing to impaired interleukin 23-dependent interleukin 17 immunity. The clinical features and outcome of candidiasis in these patients have not been described before, to our knowledge. We report here the clinical signs of candidiasis in 35 patients with IL-12Rß1 deficiency. RESULTS: Most (n = 71) of the 76 episodes of candidiasis were mucocutaneous. Isolated oropharyngeal candidiasis (OPC) was the most common presentation (59 episodes, 34 patients) and was recurrent or persistent in 26 patients. Esophageal candidiasis (n = 7) was associated with proven OPC in 2 episodes, and cutaneous candidiasis (n = 2) with OPC in 1 patient, whereas isolated vulvovaginal candidiasis (VVC; n = 3) was not. Five episodes of proven invasive candidiasis were documented in 4 patients; 1 of these episodes was community acquired in the absence of any other comorbid condition. The first episode of candidiasis occurred earlier in life (median age±standard deviation, 1.5 ± 7.87 years) than infections with environmental mycobacteria (4.29 ± 11.9 years), Mycobacterium tuberculosis (4 ± 3.12 years), or Salmonella species (4.58 ± 4.17 years) or other rare infections (3 ± 11.67 years). Candidiasis was the first documented infection in 19 of the 35 patients, despite the vaccination of 10 of these 19 patients with live bacille Calmette-Guérin. CONCLUSIONS: Patients who are deficient in IL-12Rß1 may have candidiasis, usually mucocutaneous, which is frequently recurrent or persistent. Candidiasis may be the first clinical manifestation in these patients.

Guía clínica para el diagnóstico y cuidado de niños/adolescentes con bronquiolitis obliterante post-infecciosa, 2009 / Clinical guidelines for the diagnosis and care of children and adolescents with post-infectious bronchiolitis obliterans, 2009

La bronquiolitis obliterante (BO) es un síndrome clínico poco frecuente en niños, caracterizado por la obstrucción crónica al flujo de aire asociado a cambios inflamatorios y distintos grados de fibrosis en la vía aérea pequeña. Si bien existen muchas etiologías, la causa mas frecuente se asocia a infeccionesrespiratorias virales, principalmente adenovirus. No existe un consenso para establecer su diagnóstico; sin embargo, se considera un espectro de síntomas persistentes asociados a un patrón en mosaico, bronquiectasias y atelectasias persistentes. El rol de la biopsia pulmonar ha sido cuestionado por subajo rendimiento, invasividad y complicaciones. No existe un tratamiento específico por lo que elmanejo es soporte. Probablemente la mejor estrategia constituya el empleo de antibióticos en forma agresiva, soporte kinésico y nutricional constante y una precoz rehabilitación pulmonar. Estas guías clínicas representan un esfuerzo multidisciplinario, basado en evidencias actuales para brindarherramientas prácticas para el diagnóstico y cuidado de niños y adolescentes con BO post infecciosa.