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BACKGROUND: Primary meningococcal arthritis (PMA) is defined as the presence of acute septic arthritis with the identification of Neisseria meningitidis in synovial fluid or blood cultures but no clinical evidence of sepsis or meningitis. This report aimed to describe a clinical case of PMA caused by serogroup W, an uncommon etiology of this disease in Uruguay, and review the available literature. CASE REPORT: We report the case of a 5-year-old female, with no past medical history, admitted to the emergency department with a 12-hour history of fever of 39 °C and a limp. The patient was hemodynamically stable and had no clinical evidence of meningitis. Hip ultrasound showed an increase in synovial fluid. Arthrocentesis showed purulent exudate and synovial fluid culture showed no growth after five days. The blood culture showed isolates of N. meningitidis, serogroup W. The patient received treatment with ceftriaxone, and drainage of the affected joint was performed with excellent clinical response. CONCLUSIONS: Primary meningococcal arthritis is a rare presentation of meningococcal disease. Systematic arthrocentesis and the adequacy of antibiotic therapy when septic arthritis is clinically suspected are essential for confirming the diagnosis and decompressive drainage of the involved joint. This report is the first of PMA caused by serogroup W in Uruguay. Although the most common serogroup involved in meningococcal arthritis is serogroup B in Uruguay, an increase in serogroup W-related diseases has been reported in Chile and Argentina, emphasizing the need for epidemiological surveillance.

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Human mitochondrial diseases are a group of heterogeneous diseases caused by defects in oxidative phosphorylation, due to mutations in mitochondrial (mtDNA) or nuclear DNA. The diagnosis of mitochondrial disease is challenging since mutations in multiple genes can affect mitochondrial function, there is considerable clinical variability and a poor correlation between genotype and phenotype. Herein we assessed mitochondrial function in peripheral blood mononuclear cells (PBMCs) and platelets from volunteers without known metabolic pathology and patients with mitochondrial disease. Oxygen consumption rates were evaluated and respiratory parameters indicative of mitochondrial function were obtained. A negative correlation between age and respiratory parameters of PBMCs from control individuals was observed. Surprisingly, respiratory parameters of PBMCs normalized by cell number were similar in patients and young controls. Considering possible compensatory mechanisms, mtDNA copy number in PBMCs was quantified and an increase was found in patients with respect to controls. Hence, respiratory parameters normalized by mtDNA copy number were determined, and in these conditions a decrease in maximum respiration rate and spare respiratory capacity was observed in patients relative to control individuals. In platelets no decay was seen in mitochondrial function with age, while a reduction in basal, ATP-independent and ATP-dependent respiration normalized by cell number was detected in patients compared to control subjects. In summary, our results offer promising perspectives regarding the assessment of mitochondrial function in blood cells for the diagnosis of mitochondrial disease, minimizing the need for invasive procedures such as muscle biopsies, and for following disease progression and response to treatments.

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BACKGROUND: Myiasis is an emerging disease caused by tissue invasion of dipteran larvae. In Uruguay, Cochliomyia hominivorax and Dermatobia hominis are the most frequent species. This study aimed to describe the epidemiological and clinical characteristics and the follow-up of children < 15 years hospitalized for myiasis in a reference center in Uruguay between 2010 and 2019. METHODS: We conducted a descriptive and retrospective study by reviewing medical records. We analyzed the following variables: age, sex, comorbidities, origin, the month at admission, clinical manifestations, other parasitoses, treatments, complications, and larva species identified. RESULTS: We found 63 hospitalized children: median age of 7 years (1 month-14 years), 68% of females. We detected risk comorbidities for myiasis (33%), of which chronic malnutrition was the most frequent (n = 6); 84% were from the south of the country; 76% were hospitalized during the summer. Superficial and multiple cutaneous involvements were found in 86%: of the scalp 50, furunculoid type 51, secondary to C. hominivorax 98.4%, and to D. hominis in 1.6%. As treatments, larval extraction was detected in all of them, surgical in 22%. Asphaltic products for parasites were applied in 94%, ether in 49. Antimicrobials were prescribed in 95%; cephradine and ivermectin were the most frequent. About 51% presented infectious complications, impetigo was found in 29, cellulitis in 2, and abscess in 1. CONCLUSIONS: Myiasis predominantly affected healthy schoolchildren during the summer months and was frequently associated with ectoparasites. Superficial infestation of the furuncle-like scalp by C. hominivorax was the most frequent form. Infectious complications motivated hospitalizations.

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Resumen: La malaria es un problema de salud a nivel mundial. Si bien en Uruguay existen ejemplares del género Anopheles, las especies descritas con mayor frecuencia no transmiten la enfermedad. Se comunica el primer caso de una niña con malaria importada, no complicada, por Plasmodium falciparum. El objetivo es sensibilizar al pediatra sobre una enfermedad reemergente y analizar su abordaje diagnóstico y terapéutico. Caso clínico: niña de 8 años, sana, procedente de Bolívar (Venezuela). Vive en Uruguay desde hace 15 días. Comienza cinco días previos al ingreso con fiebre de 41 °C, rinorrea y tos seca, vómitos ocasionales en las últimas 24 horas. Anorexia y marcado decaimiento. No lesiones de piel, cefalea, ni artromialgias. Examen físico: decaída, chucho febril, dolor abdominal difuso y hepatoesplenomegalia. Estudios complementarios: anemia, plaquetopenia, elevación de reactantes de fase aguda y de gamma glutamil transferasa. Ecografía abdominal: hepatoesplenomegalia moderada. Estudio parasitológico de sangre periférica: trofozoitos de Plasmodium falciparum, parasitemia menor a 10%. Se administra artemeter-lumefantrina durante tres días, seguido de primaquina por 14 días, con buena evolución. Conclusiones: la malaria debe ser considerada en un niño que proviene de zonas endémicas y se presenta con una enfermedad febril aguda, acompañada de chuchos, decaimiento y hepatoesplenomegalia. El estudio del frotis sanguíneo y gota gruesa realizado por el parasitólogo permitirá confirmar el diagnóstico y definir el abordaje terapéutico. Para disminuir la mortalidad es importante el diagnóstico oportuno y la identificación precoz de signos de malaria grave. El tratamiento será dirigido según la especie involucrada y riesgo de resistencia a los antimaláricos.

Summary: Malaria is a global health problem. Although there are specimens of the genus Anopheles, in Uruguay, the most frequently described species do not transmit the disease. We hereby report the first case of a girl with imported, uncomplicated Plasmodium falciparum malaria. The objective is to raise pediatricians' awareness regarding a re-emerging disease and analyze its diagnostic and therapeutic approach. Clinical case: 8-year-old, healthy girl from Bolívar (Venezuela) who had lived in Uruguay for 15 days. 5 days prior to admission started having 41°C fever, runny nose and dry cough and occasional vomit in the 24 hours prior to admittance. Anorexia and significant asthenia. No skin lesions, headaches or arthromyalgia. Physical exam: asthenia, feverish shivering, diffuse abdominal pain, and hepatosplenomegaly. Complementary studies: anemia, thrombocytopenia, high acute phase reactants and gamma glutamyl transferase. Abdominal ultrasound: moderate hepatosplenomegaly. Parasitological study of peripheral blood: Plasmodium falciparum trophozoites, parasitemia less than 10%. Artemether-lumefantrine was administered for 3 days, followed by primaquine for 14 days, with positive evolution. Conclusions: Malaria should be considered in cases of children from endemic areas who show acute febrile illness, accompanied by shivering, asthenia and hepatosplenomegaly. The study of the thick and peripheral blood smears carried out by the parasitologist will eventually confirm the diagnosis and define the therapeutic approach. In order to reduce mortality, it is essential to carry out a timely diagnosis and to identify symptoms of severe malaria early on. Treatment will depend on the species involved and risk of resistance to antimalarials.

Resumo: A malária é um problema de saúde global. Embora no Uruguai existam exemplares do gênero Anopheles, as espécies mais frequentemente descritas não transmitem a doença. Relatamos o primeiro caso de uma menina com malária importada não complicada por Plasmodium falciparum. O objetivo é sensibilizar o pediatra sobre uma doença reemergente e analisar sua abordagem diagnóstica e terapêutica. Caso clínico: menina saudável de 8 anos, procedente de Bolívar (Venezuela) que tinha morado no Uruguai por 15 dias. 5 dias antes da internação começa a ter febre de 41°C, rinorreia, tosse seca e vômitos ocasionais nas 24 horas anteriores à internação. Anorexia e astenia acentuada. Sem lesões cutâneas, dores de cabeça ou artromialgia. Exame físico: astenia, tremor febril, dor abdominal difusa e hepatoesplenomegalia. Estudos complementares: anemia, plaquetopenia, elevação dos reagentes de fase aguda e gama glutamil transferase. Ultrassonografia abdominal: hepatoesplenomegalia moderada. Estudo parasitológico do sangue periférico: trofozoítos por Plasmodium falciparum, parasitemia inferior a 10%. Administramos artemeter-lumefantrina por 3 dias, seguida de primaquina por 14 dias, com boa evolução. Conclusões: devemos considerar a malária em crianças procedentes de áreas endêmicas e com quadro febril agudo, acompanhado de tremores, astenia e hepatoesplenomegalia. O exame do esfregaço e de gota espessa quando feito pelo parasitologista vai confirmar o diagnóstico e definir a abordagem terapêutica. É importante realizar diagnóstico precoce e identificar os sinais de malária para diminuir o risco de mortalidade. O tratamento será administrado de acordo com a espécie envolvida e com o risco de resistência aos antimaláricos.

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Resumen: Introducción: el acoso escolar es el maltrato continuo y deliberado hacia un niño o adolescente por parte de otro u otros. Es un problema universal, difícil de identificar en la práctica pediátrica. Objetivo: describir el índice global de acoso y sus características en niños y adolescentes de 9 a 11 años hospitalizados o asistidos en policlínicas en Montevideo. Material y método: estudio transversal. Se incluyeron usuarios de 9 a 11 años, procedentes de Montevideo, hospitalizados o asistidos en policlínica de un prestador público y otro privado durante julio a setiembre de 2017. Variables: sexo, edad, prestador de salud, rendimiento escolar, centro educativo, uso de psicofármacos, índice de masa corporal. Mediante autotest Cisneros se determinó el índice global de acoso e intensidad de este. Fue aprobado por los comités de ética de ambas instituciones. Resultados: se incluyeron 83 niños: 52% niñas; 34% 9 años, 38% 10 años, 28% 11 años; prestador de salud privado 54%; educación pública 88%; buen rendimiento escolar 59%; sobrepeso 18%, obesidad 16%; uso de psicofármacos 16%. El índice global de acoso fue bajo 51%, alto 38%. Se encontró asociación entre alto riesgo de bullying con tipo de centro educativo, uso de psicofármacos e ingreso por motivo psicosocial. Intensidad de acoso alta en 73%. Modalidades más frecuentes: exclusión social y hostigamiento verbal. Conclusiones: se encontró alto riesgo de bullying y su intensidad y modalidad constituyen un problema preocupante.

Summary: Introduction: Bullying is a continuous and deliberate abuse of a child or adolescent by another. It is a global problem, and it usually goes undetected during the pediatric practice. Objective: to develop and describe a global bullying index in children and adolescents aged 9-11 years hospitalized or assisted at a public and at a private health institution in Montevideo. Materials and methods: cross-sectional study. Children from 9 to 11 years of age, from Montevideo, hospitalized or assisted at a public and at a private health institution during July to September 2017. Variables: sex, age, health provider, school performance, school center, use of psychotropic drugs, body mass index. The Cisneros Autotest described the Global Bullying Index and the Bullying Intensity. The methods were approved by the Ethics Committees of both participating health institutions. Results: 83 children participated in the study: 52% girls; 34% 9 years old, 38% 10 years old, 28% 11 years old; 54% from private health provider, 88% from public education system. 59% had good school performance; overweight 18%, obesity 16%; use of psychoactive drugs 16%. The global bullying rate was low 51%, high 38%. We found a link between high risk of bullying and type of school, use of psychotropic drugs and psychosocial admission diagnosis. Intensity was high in 73%. The most common type of bullying described was "social exclusion" and "verbal harassment". Conclusions: we found high-risk of bullying, and found that its intensity and modality have become increasingly concerning.

Resumo: Introdução: o bullying é o abuso contínuo e deliberado de uma criança ou adolescente por parte de uma outra. É um problema global, difícil de identificar na prática pediátrica. Objetivo: descrever o índice global de bullying e suas características em crianças e adolescentes de 9 a 11 anos de idade hospitalizados ou assistidos em policlínicas em Montevidéu. Materiais e métodos: estudo transversal. Foram incluídos usuários entre 9 e 11 anos de idade, procedentes de Montevidéu, hospitalizados ou assistidos numa policlínica de prestador público de saúde e numa privada, entre julho e setembro de 2017. Variáveis: sexo, idade, profissional de saúde, desempenho escolar, escola, uso drogas psicoativas, índice de massa corporal. O índice global de assédio e a sua intensidade foram avaliados através do "Autotest Cisneros". Os resultados foram aprovados pelos comitês de ética de ambas as instituições de saúde. Resultados: incluíram-se 83 meninos: 52% meninas; 34% 9 anos, 38% 10 anos, 28% 11 anos; prestador de serviços de saúde privado 54%; educação pública 88%; bom desempenho escolar 59%; sobrepeso 18%, obesidade 16%; 16% usam drogas psicoativas. A taxa de assédio global foi baixa de 51%, alta de 38%. Foi encontrada associação entre alto risco de bullying com o tipo de escola, uso de drogas psicotrópicas e admissão por razões psicossociais. Intensidade de assédio alta em 73%. Modalidades mais frequentes: "Exclusão social" e "Assédio verbal" Conclusões: encontrou-se um alto risco de bullying cuja intensidade e modalidade são um problema preocupante.

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BACKGROUND: Uruguay incorporated the conjugate vaccine against Haemophilus influenzae b (Hib) in 1994. In 2008, the vaccine was changed from one with natural conjugated capsular polysaccharide to one with a synthetic polysaccharide component. We describe the frequency and characteristics of invasive Hib infections in children hospitalized in a Pediatric Reference Hospital (PRH) between January 1st, 2000 and December 31st, 2017. METHODS: Sterile site Hib isolations from hospitalized children were included. Clinical and microbiological characteristics were analyzed. Favorable conditions for the infection were considered: incomplete immunization, immunodeficiencies and associated pathologies. Two periods are described: 1, prior to vaccine change (1/1 st/2000- 12/31/08) and 2, post-change (1/1 st/09- 12/31st/17). RESULTS: 45 children were hospitalized: 5 in the first period and 40 in the second. The hospitalization rate per 10,000 discharges was 0.41 (95% CI 0.05-0.77) and 4.2/10,000 (95% CI 2.89-5.48), respectively (p < 0.01). The diagnoses at discharge were: meningitis/ventriculitis (20), pneumonia (16), bacteremia (3), epiglottitis (1), arthritis (1), cellulitis (3) and obstruction of the upper airway (1). Four children presented comorbidities. Twenty seven received less than 3 doses of anti-Hib vaccination and 18 were properly vaccinated (2 were immunodeficient). The median hospitalization was 14 days, 18 children required intensive therapy. CONCLUSIONS: Observed change may be due to: incomplete primary series, inhomogeneous vaccine coverage and immunogenicity of the synthetic polysaccharide. To reduce this public health problem, epidemiological surveillance.

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BACKGROUND: Infective endocarditis (IE) is an important cause of morbidity and mortality. In recent years there have been changes in the epidemiology of this disease. AIM: To describe epidemiological, clinical and microbiological characteristics of patients with a diagnosis of IE admitted to a pediatric hospital from 2011 to 2018. METHODS: Observational, descriptive, retrospective study. Children under 15 years of age hospitalized with IE in a reference pediatric hospital in Uruguay were included. Calculations of measures of central tendency and dispersion were used, as well as absolute and percentage frequencies. RESULTS: 11 children were identified, mean age 4 years 6 months (range 5 months - 13 years). Five without risk factors, 6 with risk factors: 5 congenital heart disease (2 with cardiac surgery) and 1 central venous catheter. In 11 blood cultures were obtained prior to antibiotics, 10 a single sample, 1 with two samples. In 9 cases a microorganism was isolated. The most frequent was Staphylococcus aureus 4 children (2 methicillin resistant), followed by group viridans Streptococcus 3 children. In 10 children vegetations were found in the echocardiogram, 6 valvular. The most frequent empirical treatment was ceftriaxone and vancomycin. Complications were heart failure and septic emboli. 5 children required heart surgery. One patient died. CONCLUSIONS: An increase of IE in children without heart disease has been observed, then, it is necessary to have high clinical suspicion in febrile patients. It is important to perform blood cultures prior to the start of antibiotics and to consider coverage against Staphylococcus aureus in empirical initial treatment.

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BACKGROUND: Tuberculosis is a public health problem. Children constitute a population at risk of becoming ill and evolving into serious forms. AIM: To describe the frequency, epidemiological, clinical and evolutionary characteristics of children under 15 years of age hospitalized for extrapulmonary tuberculosis (EPTB) at the Pereira Rossell Hospital-Uruguay, during 2009-2019. METHODS: Descriptive, retrospective study, review of medical records and records of the Honorary Commission for the Fight Against Tuberculosis. VARIABLES: age, sex, epidemiological and clinical link, diagnostic confirmation, treatment and complications. RESULTS: 77 cases of EPTB were registered, 45 (58%) were hospitalized in this center. Average age 7 years, males 25 (56%). All received the Bacillus Calmette-Guérin vaccine. An epidemiological link was identified in 28 (62%). The forms of EPTB were: pleural 26 (58%), central nervous system (CNS) 9 (20%), lymphoganglionic 4 (9%), cutaneous 2 (5%), bone 1 (2%), peritoneal 1 (2%), pleural- peritoneal 1 (2%), bone-CNS 1 (2%). Etiology was confirmed in 23 (51%): by culture 16, GeneXpert 5, by both 2. Thirty-six (80%) patients completed treatment. Four (9%) presented complications: convulsive state 2, cerebral hemorrhage 1, multiple organ failure 1. CONCLUSIONS: EPTB occurred in previously healthy children. The diagnosis requires a high index of suspicion and the confirmation of the simultaneous use of several diagnostic techniques.

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Resumen: El neuroblastoma es un tumor maligno del sistema nervioso simpático periférico con presentación y curso clínico heterogéneo. Es el tercer tumor pediátrico más frecuente y el 90% de los casos se diagnostica antes de los 5 años. Los síntomas más comunes se deben a la compresión por la masa tumoral o al dolor óseo causado por la metástasis. La diarrea como síntoma principal es rara por lo que es difícil de diagnosticar en la etapa temprana de la enfermedad. Se presenta el caso clínico de una paciente de 2 años en la que luego de 8 meses de estudio por diarrea crónica se diagnóstica ganglioneuroblastoma secretor de VIP. Se debe plantear como diagnóstico diferencial en los pacientes menores de 3 años con diarrea crónica intratable luego de haber descartado otras etiologías.

Summary: Neuroblastoma is a malignant tumor of the peripheral sympathetic nervous system with heterogeneous clinical presentation and course. It is the third most frequent pediatric tumor and in 90% of cases it is diagnosed before 5 years of age. The most typical symptoms result from the tumor compression or bone pain caused by methastasis. Diarrhea as the main symptom is unusual, and thus it is hard to diagnose in early stages of the disease. We report the case of a 2-year-old patient who, after 8 months of study for chronic diarrhea was diagnosed with VIP-secreting ganglioneuroblastoma. It is necessary for this condition to be considered as a differential diagnosis in patients younger than 3 years old with chronic diarrhea with no evolution, after other etiologies are ruled out.

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El neuroblastoma es un tumor maligno del sistema nervioso simpático periférico con presentación y curso clínico heterogéneo. Es el tercer tumor pediátrico más frecuente y el 90% de los casos se diagnostica antes de los 5 años. Los síntomas más comunes se deben a la compresión por la masa tumoral o al dolor óseo causado por la metástasis. La diarrea como síntoma principal es rara por lo que es difícil de diagnosticar en la etapa temprana de la enfermedad. Se presenta el caso clínico de una paciente de 2 años en la que luego de 8 meses de estudio por diarrea crónica se diagnóstica ganglioneuroblastoma secretor de VIP. Se debe plantear como diagnóstico diferencial en los pacientes menores de 3 años con diarrea crónica intratable luego de haber descartado otras etiologías.

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