Emerging species in pediatrics: a case of Acinetobacter johnsonii meningitis.

BACKGROUND: Among the microorganisms corresponding to the genus Acinetobacter, Acinetobacter johnsonii is a species of low epidemiological incidence compared to Acinetobacter baumannii. However, it has a comparable infectious capacity since it can be involved in severe diseases like bacteremia or meningitis. Its habitat is variable, usually found in humid tropical climates (as is the case in Colombia), soil, water, or animal reservoirs. It is still an unknown germ for most health personnel, as there are not many reported cases, and information about its microbiological and epidemiological characteristics is still scarce, making its identification and treatment difficult. CLINICAL CASE: We describe the case of A. johnsonii infection of the central nervous system in a 15-year-old female, as well as the diagnostic method used, the course of the disease, medical management, and clinical outcome. CONCLUSIONS: It is of utmost importance to report this type of microorganisms to facilitate early diagnosis and appropriate treatment. More scientific publications of this type are needed to broaden the knowledge about these microorganisms.

INTRODUCCIÓN: Dentro de los microorganismos correspondientes al género Acinetobacter, Acinetobacter johnsonii es una especie de poca frecuencia epidemiológica en comparación con Acinetobacter baumannii. Sin embargo, posee una capacidad infecciosa equiparable, ya que se puede ver involucrado en patologías graves, como bacteriemia o meningitis. Su hábitat es variable y suele encontrarse en climas tropicales húmedos (como es el caso de Colombia), suelos, aguas o reservorios animales. Actualmente sigue siendo un patógeno desconocido por gran parte del personal de salud, pues no existen muchos casos reportados, y la información acerca de sus características microbiológicas y epidemiológicas aún es escasa, lo que dificulta su identificación y tratamiento. CASO CLÍNICO: Se describe una infección del sistema nervioso central por A. johnsonii en una paciente de sexo femenino de 15 años, así como el método diagnóstico utilizado, el curso de la enfermedad, el manejo médico y el desenlace clínico. CONCLUSIONES: Es de suma importancia dar a conocer la existencia de estos microorganismos para facilitar el diagnóstico temprano y el tratamiento apropiado. Se requieren más publicaciones científicas de este tipo para ampliar el conocimiento acerca de estos microorganismos.

Mutación en el gen SCN9Aasociado con el síndrome de Dravet: presentación de un caso pediátrico / Mutation in the SCN9A Gene Associated with Dravet Syndrome: A Pediatric Case Report / Mutação no gene SCN9A associada à síndrome de Dravet: relato de um caso pediátrico

Introducción:el síndrome de Dravet, también conocido como epilepsia mioclónica grave de la infancia, corresponde a una encefalopatía epiléptica resistente a fármacos que inicia generalmente en el primer año de vida. Se caracteriza por crisis epilépticas que suelen tener múltiples desencadenantes; el más asociado es la presencia de episodios febriles previos. Se considera una enfermedad rara, debido a su baja incidencia y prevalencia. Presentación del caso: niño de 10 años de edad con un cuadro de epilepsia de origen estructural, asociada con un retraso en el neurodesarrollo y anomalías craneofaciales meno-res, con antecedente de cardiopatía congénita no corregida, colpocefalia y agenesia del cuerpo calloso. Debido a la persistencia de las crisis convulsivas y su consiguiente resistencia farmacológica, se le rea-lizó un exoma genético que evidenció una mutación del gen SCN9. Discusión: el síndrome de Dravet debe ser sospechado en todo paciente menor de un año que tenga crisis convulsivas a repetición asociadas con episodios febriles cuantificados. Aproximadamente, entre el 70 % y el 85 % de los pacientes con el diagnóstico de síndrome de Dravet presenta una mutación en el gen SCN1A, por lo que mutaciones en otros genes que codifican para canales de sodio, ubicados en el mismo cromosoma, como el SCN9A, podrían contribuir de forma multifactorial a dicha entidad

Introduction: Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a drug resistant epileptic encephalopathy that usually begins in the first year of life. It is characterized by the presence of epileptic seizures that usually have multiple triggers; the most currently associated is the presence of previous febrile episodes. It is considered as a rare disease due to its low incidence and prevalence. Case presentation: We reported the case of a ten-year-old boy with structural epilepsy associated with a neuro-developmental delay and minor craniofacial anomalies. He had a history of uncorrected congenital heart disease, colpocephaly, and agenesis of the corpus callosum. Due to the persistence of seizures secondary to drug resistance, it was decided to perform a genetic exome that evidenced a mutation of the SCN9A gene. Conclusions: Dravet syndrome should be suspected in all patients under one year of age who have recu-rrent seizures associated with fever that does not respond to medication and modifies its presentation. Approximately 70%−85% of the patients diagnosed with Dravet syndrome have a mutation in the SCN1A gene; therefore, mutations in other genes that encode sodium channels located on the same chromosome, such as SCN9A, could contribute in a multifactorial way.

Introdução: a síndrome de Dravet, também conhecida como epilepsia mioclônica grave da infância, corresponde a uma encefalopatia epiléptica resistente a medicamentos que geralmente se inicia no primeiro ano de vida. É caracterizada pela presença de crises epilépticas que costumam ter múltiplos detonantes, sendo que o mais associado atualmente é a presença de episódios febris prévios. É conside-rada uma doença rara devido à sua baixa incidência e prevalência. Apresentação do caso: é apresentado o caso de um menino de 10 anos de idade com quadro de epilepsia de origem estrutural, associada a atraso no desenvolvimento neurológico e pequenas anomalias craniofaciais; com histórico de cardio-patia congênita não corrigida, colpocefalia e agenesia do corpo caloso. Devido à persistência das crises epilépticas e consequente resistência farmacológica, optou-se pela realização de um exoma genético que apresenta uma mutação do gene SCN9. Discussão: a síndrome de Dravet deve ser suspeitada em todos os pacientes com menos de um ano de idade que apresentam convulsões repetidas associadas a episódios febris quantificados. Aproximadamente 70 a 85% dos pacientes com diagnóstico de síndrome de Dravet apresentam mutação no gene SCN1A, portanto mutações em outros genes que codificam canais de sódio, localizados no mesmo cromossomo, como o SCN9A, poderiam contribuir de forma multifatorial para essa entidade

Atresia biliar por citomegalovirus: un reporte de caso / Cytomegalovirus-associated biliary atresia: Case report

Resumen La atresia biliar asociada con inmunoglobulina M (IgM) positiva para citomegalovirus (CMV) es una entidad infrecuente que se caracteriza por la obliteración inflamatoria progresiva de los conductos intra- o extrahepáticos producida por una reacción autoinmune perinatal contra el CMV. El diagnóstico se realiza con IgM positiva para CMV y biopsia hepática con evidencia de atresia de las vías biliares. El conocimiento y la identificación temprana de esta patología conduce a un manejo quirúrgico temprano, mejorando considerablemente el pronóstico de estos pacientes. Se presenta un caso clínico de una paciente de 82 días de edad con un cuadro de acolia, coluria e ictericia de inicio tardío, asociado con hiperbilirrubinemia a expensas de la directa, elevación de perfil hepático e IgM positiva para CMV. La colangiorresonancia intraoperatoria confirmó el cuadro de atresia de las vías biliares. Se realizó una derivación biliodigestiva tipo Kasai y la toma de biopsia hepática que confirmó el cuadro clínico.

Abstract Biliary atresia associated with positive cytomegalovirus IgM results is a rare condition characterized by progressive inflammatory obliteration of the intra- or extrahepatic ducts. It is caused by a perinatal autoimmune reaction against cytomegalovirus (CMV). Diagnosis is made based on positive IgM for CMV and liver biopsy with evidence of bile duct atresia. Knowledge and timely identification of this disease leads to early surgical management, considerably improving the prognosis of these patients. This is the clinical case of an 82-day-old female patient with late-onset acholia, choluria, and jaundice, associated with conjugated hyperbilirubinemia, elevated liver function tests and positive CMV IgM results. Intraoperative cholangioresonance confirmed bile duct atresia. The Kasai procedure was performed, and a liver biopsy was taken, confirming the diagnosis.

Cáncer en el Hospital 12 de Octubre de Madrid. Evolución en la supervivencia. Años 1999-2016 / Childhood cancer in a tertiary care hospital in Madrid. Evolution of survival. Years 1999-2016

INTRODUCCIÓN: El cáncer es la primera causa de muerte por enfermedad en niños. Se detallan algunos aspectos epidemiológicos del cáncer infantil obtenidos del Registro de Tumores de un hospital de tercer nivel de Madrid, con el fin de aportar información útil para el manejo del cáncer en este grupo de pacientes. MATERIAL Y MÉTODOS: Análisis descriptivo y retrospectivo de los datos del Registro de Tumores de un hospital de tercer nivel (periodo 1999-2016), con el objetivo de analizar la incidencia (global y por categorías diagnósticas) y la supervivencia (global, por grupos diagnósticos y por cohortes de años de diagnóstico) del cáncer infantil. RESULTADOS: Entre 1999 y 2016 se registraron 769 tumores infantiles, 431 en niños y 338 en niñas. Las neoplasias más frecuentes fueron los tumores del sistema nervioso central (32,5%), las leucemias, los síndromes mielodisplásicos y síndromes mieloproliferativos (19%), los linfomas (15%) y los neuroblastomas (7,5%). La supervivencia global a los 5 años fue del 78%. La supervivencia a los 5 años para estas categorías diagnósticas fue del 74% (67-81%) para los tumores del sistema nervioso central; del 80% (72-88%) para las leucemias, síndromes mielodisplásicos y síndromes mieloproliferativos; del 87% (80-95%) para los linfomas y neoplasias reticuloendoteliales; y del 68% (53-84%) para los neuroblastomas y otros tumores de células nerviosas periféricas. La comparativa entre dos cohortes de años de diagnóstico (1999-2004 vs. 2005-2010) revela un incremento de la supervivencia en la cohorte más reciente, que solo es estadísticamente significativo en los tumores del sistema nervioso central. CONCLUSIONES: Nuestros resultados son similares a los del Registro Español de Tumores Infantiles. La información aportada por los Registros de Tumores es necesaria para un mayor conocimiento del cáncer y para garantizar la calidad asistencial de los enfermos oncológicos

INTRODUCTION: Cancer is the leading cause of death from disease in children. Some epidemiological aspects of childhood cancer obtained from the Tumour Registry of a tertiary care hospital in Madrid are detailed, in order to provide useful information for the management of cancer in this group of patients. MATERIAL AND METHODS: Descriptive and retrospective analysis of the data from the Hospital's Tumour Registry (period 1999-2016), with the aim of analysing the incidence (overall, and by diagnostic categories) and survival (overall, by diagnostic groups and cohorts of years of diagnosis) of childhood cancer. RESULTS: A total of 769 childhood tumours were registered between 1999 and 2016, 431 in boys and 338 in girls. The most common neoplasms were central nervous system tumours (32.5%), leukaemias, myelodysplastic syndromes and myeloproliferative syndromes (19%); lymphomas (15%), and neuroblastomas (7.5%). Overall 5-year survival was 78%. Five-year survival of these diagnostic categories was 74% (67-81%) for central nervous system tumours; 80% (72-88%) for leukaemias, myelodysplastic syndromes and myeloproliferative syndromes; 87% (80-95%) for lymphomas and reticuloendothelial neoplasms; and 68% (53-84%) for neuroblastomas and other peripheral nerve cells tumours. The comparison between two diagnostic cohorts (1999-2004 vs 2005-2010) showed an increase in survival in the most recent cohort, which was only statistically significant in central nervous system tumours. CONCLUSIONS: These results are similar to those of the Spanish Register of Childhood Tumours. The information provided by the Tumour Registries is necessary for greater knowledge of cancer and to ensure the quality of care for cancer patients

[Childhood cancer in a tertiary care hospital in Madrid. Evolution of survival. Years 1999-2016]. / Cáncer en el Hospital 12 de Octubre de Madrid. Evolución en la supervivencia. Años 1999-2016.

INTRODUCTION: Cancer is the leading cause of death from disease in children. Some epidemiological aspects of childhood cancer obtained from the Tumour Registry of a tertiary care hospital in Madrid are detailed, in order to provide useful information for the management of cancer in this group of patients. MATERIAL AND METHODS: Descriptive and retrospective analysis of the data from the Hospital's Tumour Registry (period 1999-2016), with the aim of analysing the incidence (overall, and by diagnostic categories) and survival (overall, by diagnostic groups and cohorts of years of diagnosis) of childhood cancer. RESULTS: A total of 769 childhood tumours were registered between 1999 and 2016, 431 in boys and 338 in girls. The most common neoplasms were central nervous system tumours (32.5%), leukaemias, myelodysplastic syndromes and myeloproliferative syndromes (19%); lymphomas (15%), and neuroblastomas (7.5%). Overall 5-year survival was 78%. Five-year survival of these diagnostic categories was 74% (67-81%) for central nervous system tumours; 80% (72-88%) for leukaemias, myelodysplastic syndromes and myeloproliferative syndromes; 87% (80-95%) for lymphomas and reticuloendothelial neoplasms; and 68% (53-84%) for neuroblastomas and other peripheral nerve cells tumours. The comparison between two diagnostic cohorts (1999-2004 vs 2005-2010) showed an increase in survival in the most recent cohort, which was only statistically significant in central nervous system tumours. CONCLUSIONS: These results are similar to those of the Spanish Register of Childhood Tumours. The information provided by the Tumour Registries is necessary for greater knowledge of cancer and to ensure the quality of care for cancer patients.

Male infant patient with a mesenteric cyst in the greater and lesser omenta: a case report.

BACKGROUND: Mesenteric cysts are intra-abdominal masses of congenital origin, which most frequently occur in children, with an incidence of approximately 1 case per 20,000 pediatric admissions. Its progression can be asymptomatic, and its diagnosis can be incidental. However, it usually occurs with symptoms such as nausea, vomiting, constipation, sensation of a mass, and/or diarrhea. The diagnostic imaging method of choice is abdominal ultrasound. CASE PRESENTATION: Below, we present the case of a previously healthy 1-year-old male patient with nonspecific symptoms, who was referred to a tertiary hospital. The presence of a mesenteric cyst was detected at the end of the diagnostic approach. CONCLUSION: It is important to know these pathologies even though they are infrequent, because although they are benign masses by definition, they can lead to complications such as intestinal torsion, intestinal obstruction, and even peritonitis.

Congenital hyperinsulinism: characterization of patients treated in a pediatric university hospital in Colombia.

Background: Congenital hyperinsulinism is a disease of the glucose metabolism, relevant in pediatric endocrinology because of the elevated production of insulin according to blood glucose level, which leads to persistent severe hypoglycemia. This condition can produce important neurological sequelae in the patient due to the irreversible damage that occurs in the neuron caused by the exposure to hypoglycemia for short periods of time. Congenital hyperinsulinism diagnosis is not simple and it requires a high index of suspicion. The treatment should be established sequentially, in several steps, noticing the response to each possible medication used. If the pharmacological management fails, surgical procedures are required occasionally. Case series report: Seven cases of congenital hyperinsulinism diagnosed in the last seven years at the Instituto Roosevelt in Bogotá, Colombia are presented. In this country, the radiotracer used internationally during positron emission tomography/computed tomography (PET/CT) is not available. However, was possible to use an alternative radiotracer in one of the cases, which led to an adequate diagnosis and a successful surgical treatment. Conclusions: Congenital hyperinsulinism is a complex clinical condition, which requires proper diagnosis and treatment, with the aim of avoiding any neurological damage caused by persistent hypoglycemia. PET/CT can be used with an appropriate radiotracer for a timely diagnosis and to provide the best available therapeutic option.

Introducción: El hiperinsulinismo congénito es una enfermedad del metabolismo de la glucosa, fundamental en la endocrinología pediátrica, ya que se refiere a la producción de mayor cantidad de insulina de la necesaria según la glucemia, lo cual produce hipoglucemias graves persistentes. Esta alteración puede tener importantes secuelas neurológicas debido al daño irreversible que se produce en la neurona por la exposición a la hipoglucemia por cortos periodos de tiempo. Su diagnóstico no es sencillo y requiere un alto índice de sospecha. El tratamiento se establece de manera secuencial, en varias etapas, observando la respuesta a cada uno de los posibles medicamentos empleados. En caso de que falle el manejo farmacológico, se requieren procedimientos quirúrgicos. Serie de casos: Se presentan siete casos de hiperinsulinismo congénito que fueron diagnosticados en los últimos 7 años en el Instituto Roosevelt en Bogotá, Colombia. En este país, el radiotrazador empleado usualmente durante la tomografía por emisión de positrones (PET/TC) no se encuentra disponible. Sin embargo, en uno de los casos descritos fue posible emplear otro radiotrazador alternativo que permitió un adecuado diagnóstico y un tratamiento quirúrgico exitoso. Conclusiones: El hiperinsulinismo congénito es una condición clínica compleja que amerita un correcto diagnóstico y un apropiado manejo, con el objetivo de evitar el daño neurológico que producen las hipoglucemias persistentes. Es posible emplear PET/TC con un radiotrazador adecuado para realizar un diagnóstico oportuno y proporcionar la mejor opción terapéutica disponible.

Hiperinsulinismo congénito: caracterización de pacientes atendidos en un hospital universitario pediátrico en Colombia / Congenital hyperinsulinism: characterization of patients treated in a pediatric university hospital in Colombia

Resumen Introducción: El hiperinsulinismo congénito es una enfermedad del metabolismo de la glucosa, fundamental en la endocrinología pediátrica, ya que se refiere a la producción de mayor cantidad de insulina de la necesaria según la glucemia, lo cual produce hipoglucemias graves persistentes. Esta alteración puede tener importantes secuelas neurológicas debido al daño irreversible que se produce en la neurona por la exposición a la hipoglucemia por cortos periodos de tiempo. Su diagnóstico no es sencillo y requiere un alto índice de sospecha. El tratamiento se establece de manera secuencial, en varias etapas, observando la respuesta a cada uno de los posibles medicamentos empleados. En caso de que falle el manejo farmacológico, se requieren procedimientos quirúrgicos. Serie de casos: Se presentan siete casos de hiperinsulinismo congénito que fueron diagnosticados en los últimos 7 años en el Instituto Roosevelt en Bogotá, Colombia. En este país, el radiotrazador empleado usualmente durante la tomografía por emisión de positrones (PET/TC) no se encuentra disponible. Sin embargo, en uno de los casos descritos fue posible emplear otro radiotrazador alternativo que permitió un adecuado diagnóstico y un tratamiento quirúrgico exitoso. Conclusiones: El hiperinsulinismo congénito es una condición clínica compleja que amerita un correcto diagnóstico y un apropiado manejo, con el objetivo de evitar el daño neurológico que producen las hipoglucemias persistentes. Es posible emplear PET/TC con un radiotrazador adecuado para realizar un diagnóstico oportuno y proporcionar la mejor opción terapéutica disponible.

Abstract Background: Congenital hyperinsulinism is a disease of the glucose metabolism, relevant in pediatric endocrinology because of the elevated production of insulin according to blood glucose level, which leads to persistent severe hypoglycemia. This condition can produce important neurological sequelae in the patient due to the irreversible damage that occurs in the neuron caused by the exposure to hypoglycemia for short periods of time. Congenital hyperinsulinism diagnosis is not simple and it requires a high index of suspicion. The treatment should be established sequentially, in several steps, noticing the response to each possible medication used. If the pharmacological management fails, surgical procedures are required occasionally. Case series report: Seven cases of congenital hyperinsulinism diagnosed in the last seven years at the Instituto Roosevelt in Bogotá, Colombia are presented. In this country, the radiotracer used internationally during positron emission tomography/computed tomography (PET/CT) is not available. However, was possible to use an alternative radiotracer in one of the cases, which led to an adequate diagnosis and a successful surgical treatment. Conclusions: Congenital hyperinsulinism is a complex clinical condition, which requires proper diagnosis and treatment, with the aim of avoiding any neurological damage caused by persistent hypoglycemia. PET/CT can be used with an appropriate radiotracer for a timely diagnosis and to provide the best available therapeutic option.

Individuals with nonsyndromic orofacial clefts have increased asymmetry of fingerprint patterns.

Dermatoglyphic patterns on the fingers often differ in syndromes and other conditions with a developmental component, compared to the general population. Previous literature on the relationship between orofacial clefts-the most common craniofacial birth defect in humans-and dermatoglyphics is inconsistent, with some studies reporting altered pattern frequencies and/or increased asymmetry and others failing to find differences. To investigate dermatoglyphics in orofacial clefting, we obtained dermatoglyphic patterns in a large multiethnic cohort of orofacial cleft cases (N = 367), their unaffected family members (N = 836), and controls (N = 299). We categorized fingerprint pattern types from males and females who participated at five sites of the Pittsburgh Orofacial Cleft study (Hungary, United States of America (Pennsylvania, Texas), Spain, and Argentina). We also calculated a pattern dissimilarity score for each individual as a measure of left-right asymmetry. We tested for group differences in the number of arches, ulnar and radial loops, and whorls on each individual's hands, and in the pattern dissimilarity scores using ANOVA. After taking sex and site differences into account, we did not find any significant pattern count differences between cleft and non-cleft individuals. Notably, we did observe increased pattern dissimilarity in individuals with clefts, compared to both their unaffected relatives and controls. Increased dermatoglyphic pattern dissimilarity in individuals with nonsyndromic orofacial clefts may reflect a generalized developmental instability.

Papillary hemangioma in a child and sonographic characterization.

Papillary hemangioma (PH) is a rare, benign, vascular tumor that usually appears on the scalp and face and is reported most frequently in adults. We present a pediatric case of PH and provide sonographic features that may assist in establishing the diagnosis.

Síndrome de Sweet en una niña preescolar / Sweet syndrome in a 5-year-old girl

El síndrome de Sweet, también conocido como dermatosis neutrofílica febril, es un trastorno dermatológico poco frecuente en pediatría. Clínicamente, se caracteriza por la aparición de lesiones papulares y/o nodulares de una coloración rojiza-violeta con hipersensibilidad local. Se reporta el caso de una paciente femenina de 5 años, quien consultó por un cuadro clínico de 10 días de evolución de aparición de lesión forunculosa en el arco nasal. Se realizó una biopsia de piel, que reportó dermatitis difusa con predominio de polimorfonucleares neutrófilos, necrosis epidérmica y ausencia de vasculitis. No se identificaron microorganismos. Se consideró el cuadro compatible con síndrome de Sweet. Es importante tener en cuenta este diagnóstico en cuadros clínicos similares y se deben descartar otros diagnósticos más frecuentes primero.

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is an infrequent dermatological disorder in pediatrics. Clinically it is characterized by the development of papular and/or nodular lesions of a reddish-violet coloration with local hypersensitivity. We report the case of a 5-year-old female who consulted 1 month after the appearance of the lesion in the nasal arch. A skin biopsy was performed and it reported diffuse dermatitis with a predominance of neutrophil polymorphonuclear cells, epidermal necrosis and absence of vasculitis. No microorganisms were identified. It was considered compatible with Sweet syndrome. It is important to consider this diagnosis in similar clinical cases and other more frequent diagnoses must be ruled out first.

[Sweet syndrome in a 5-year-old girl]. / Síndrome de Sweet en una niña preescolar.

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is an infrequent dermatological disorder in pediatrics. Clinically it is characterized by the development of papular and/or nodular lesions of a reddish-violet coloration with local hypersensitivity. We report the case of a 5-year-old female who consulted 1 month after the appearance of the lesion in the nasal arch. A skin biopsy was performed and it reported diffuse dermatitis with a predominance of neutrophil polymorphonuclear cells, epidermal necrosis and absence of vasculitis. No microorganisms were identified. It was considered compatible with Sweet syndrome. It is important to consider this diagnosis in similar clinical cases and other more frequent diagnoses must be ruled out first.

El síndrome de Sweet, también conocido como dermatosis neutrofílica febril, es un trastorno dermatológico poco frecuente en pediatría. Clínicamente, se caracteriza por la aparición de lesiones papulares y/o nodulares de una coloración rojiza-violeta con hipersensibilidad local. Se reporta el caso de una paciente femenina de 5 años, quien consultó por un cuadro clínico de 10 días de evolución de aparición de lesión forunculosa en el arco nasal. Se realizó una biopsia de piel, que reportó dermatitis difusa con predominio de polimorfonucleares neutrófilos, necrosis epidérmica y ausencia de vasculitis. No se identificaron microorganismos. Se consideró el cuadro compatible con síndrome de Sweet. Es importante tener en cuenta este diagnóstico en cuadros clínicos similares y se deben descartar otros diagnósticos más frecuentes primero.

Síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos debido a la carbamazepina: Caso pediátrico / Drug reaction with eosinophilia and systemic symptoms due to carbamazepine: Pediatric case

Entre las reacciones medicamentosas graves en la piel, se encuentran el síndrome de Stevens-Johnson, la necrólisis epidérmica tóxica y el síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos (drug reaction with eosinophilia and systemic symptoms; DRESS, por sus siglas en inglés), que son poco comunes en la población pediátrica (incidencia: 1/1000-10 000 niños), sin embargo, tienen mal pronóstico. El síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos consiste en erupciones cutáneas, alteraciones hematológicas, linfadenopatía y afectación de órganos. Se presenta el caso de un paciente masculino de 12 años que desarrolló esta patología después de iniciar el tratamiento anticonvulsivo con carbamazepina. Se considera que es importante que el personal de la salud tenga conocimiento de esta enfermedad para que sea incluida entre los diagnósticos diferenciales de pacientes con afecciones similares, ya que este síndrome es potencialmente mortal.

Severe skin reactions include Stevens-Johnson Syndrome, toxic epidermal necrolysis and Drug reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome, which are uncommon in the pediatric population (incidence 1/1000-10 000 children), but they have bad prognosis. Drug-sensitive Syndrome with eosinophilia and systemic symptoms consists in rash, hematological abnormalities, lymphadenopathy and organ involvement. We report the case of a 12-year-old male patient who developed this pathology after initiating anticonvulsant therapy with carbamazepine. We consider that it is important to be aware of this disease and to include it among the differential diagnoses in patients with similar conditions because this syndrome is life-threatening.

[Drug reaction with eosinophilia and systemic symptoms due to carbamazepine. Pediatric case]. / Síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos debido a la carbamazepina. Caso pediátrico.

Severe skin reactions include Stevens-Johnson Syndrome, toxic epidermal necrolysis and Drug reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome, which are uncommon in the pediatric population (incidence 1/1000- 10 000 children), but they have bad prognosis. Drug-sensitive Syndrome with eosinophilia and systemic symptoms consists in rash, hematological abnormalities, lymphadenopathy and organ involvement. We report the case of a 12-year-old male patient who developed this pathology after initiating anticonvulsant therapy with carbamazepine. We consider that it is important to be aware of this disease and to include it among the differential diagnoses in patients with similar conditions because this syndrome is life-threatening.

Entre las reacciones medicamentosas graves en la piel, se encuentran el síndrome de Stevens-Johnson, la necrólisis epidérmica tóxica y el síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos (drug reaction with eosinophilia and systemic symptoms; DRESS, por sus siglas en inglés), que son poco comunes en la población pediátrica (incidencia: 1/1000- 10 000 niños), sin embargo, tienen mal pronóstico. El síndrome de sensibilidad a fármacos con eosinofilia y síntomas sistémicos consiste en erupciones cutáneas, alteraciones hematológicas, linfadenopatía y afectación de órganos. Se presenta el caso de un paciente masculino de 12 años que desarrolló esta patología después de iniciar el tratamiento anticonvulsivo con carbamazepina. Se considera que es importante que el personal de la salud tenga conocimiento de esta enfermedad para que sea incluida entre los diagnósticos diferenciales de pacientes con afecciones similares, ya que este síndrome es potencialmente mortal.

Pancreatitis aguda secundaria a un trauma abdominal: reporte de caso de una niña de 7 años / Acute pancreatitis secondary to an abdominal trauma: case report of a 7-year-old child

La pancreatitis consiste en la inflamación aguda del páncreas, que se caracteriza, clínicamente, por dolor abdominal. Para realizar el diagnóstico, es necesario que se presente la elevación de marcadores bioquímicos, como amilasa o lipasa pancreáticas. Esta afección es la enfermedad pancreática más frecuente tanto en niños como en adultos. Su presentación en la población pediátrica está en aumento y tiene varias etiologías, como infecciones, trauma, intoxicación y enfermedades metabólicas. Entre los mecanismos de trauma, se han descrito maltrato infantil, caídas, trauma con el manubrio de la bicicleta y accidentes de tránsito. En este artículo, se presenta un caso de pancreatitis secundaria a un trauma abdominal con el manubrio de una bicicleta en una paciente de 7 años.

Pancreatitis consists in acute inflammation of the pancreas that is clinically characterized by abdominal pain. To make the diagnosis it is necessary the elevation of biochemical markers like pancreatic amylase or lipase. It is the most frequent pancreatic disease in both children and adults. Its presentation in the pediatric population is increasing and has several etiologies such as: infections, trauma, intoxication and metabolic diseases. Trauma mechanisms have been described: child maltreatment, falls, trauma with the bicycle handle and traffic accidents. In this article, we present a case of pancreatitis secondary to an abdominal trauma with the handle of a bicycle in a patient of 7 years.

[Acute pancreatitis secondary to an abdominal trauma: case report of a 7-year-old child]. / Pancreatitis aguda secundaria a un trauma abdominal: reporte de caso de una niña de 7 años.

Pancreatitis consists in acute inflammation of the pancreas that is clinically characterized by abdominal pain. To make the diagnosis it is necessary the elevation of biochemical markers like pancreatic amylase or lipase. It is the most frequent pancreatic disease in both children and adults. Its presentation in the pediatric population is increasing and has several etiologies such as: infections, trauma, intoxication and metabolic diseases. Trauma mechanisms have been described: child maltreatment, falls, trauma with the bicycle handle and traffic accidents. In this article, we present a case of pancreatitis secondary to an abdominal trauma with the handle of a bicycle in a patient of 7 years.

La pancreatitis consiste en la inflamación aguda del páncreas, que se caracteriza, clínicamente, por dolor abdominal. Para realizar el diagnóstico, es necesario que se presente la elevación de marcadores bioquímicos, como amilasa o lipasa pancreáticas. Esta afección es la enfermedad pancreática más frecuente tanto en niños como en adultos. Su presentación en la población pediátrica está en aumento y tiene varias etiologías, como infecciones, trauma, intoxicación y enfermedades metabólicas. Entre los mecanismos de trauma, se han descrito maltrato infantil, caídas, trauma con el manubrio de la bicicleta y accidentes de tránsito. En este artículo, se presenta un caso de pancreatitis secundaria a un trauma abdominal con el manubrio de una bicicleta en una paciente de 7 años.

Neisseria gonorrhoeae: un agente causal infrecuente de celulitis periorbitaria en un niño / Neisseria gonorrhoeae: an infrequent causal agent of periorbital cellulitis in a child

La celulitis periorbitaria es una patología muy frecuente en la población pediátrica. Se define como la infección que compromete los tejidos blandos adyacentes a la órbita sin atravesar el septum orbitario. Después de la introducción de la vacuna contra Haemophilus influenzae, los patógenos involucrados, generalmente, son cocos Gram-positivos. A continuación, se presenta un caso de celulitis periorbitaria asociada a conjuntivitis purulenta por Neisseria gonorrhoeae en un niño de 2 años y 10 meses. Existen pocos casos descritos en la literatura en los que este microorganismo aparece como agente causal de celulitis periorbitaria. Con este caso, se quiere resaltar la importancia de la toma de cultivo en los pacientes que concomitantemente presenten conjuntivitis bacteriana y secreción purulenta, ya que esto facilitó el diagnóstico de esta patología por un agente etiológico poco frecuente.

Periorbital cellulitis is a very common disease in pediatric population, it describes an infection involving the adjacent soft tissues anterior to the orbital septum. Pathogens involved are generally Gram-positive cocci after introduction of Haemophilus influenzae vaccine. We report a case of Neisseria gonorrhoeae periorbital cellulitis associated with bacterial conjunctivitis in a child. There are few cases reported in the literature with this microorganism as the causal agent. With this case, we would like to emphasize the importance to do a culture of the ocular secretion (if it exists) because this allowed us to determine an infrequent agent of this disease.

[Neisseria gonorrhoeae: an infrequent causal agent of periorbital cellulitis in a child]. / Neisseria gonorrhoeae: un agente causal infrecuente de celulitis periorbitaria en un niño.

Periorbital cellulitis is a very common disease in pediatric population, it describes an infection involving the adjacent soft tissues anterior to the orbital septum. Pathogens involved are generally Gram-positive cocci after introduction of Haemophilus influenzae vaccine. We report a case of Neisseria gonorrhoeae periorbital cellulitis associated with bacterial conjunctivitis in a child. There are few cases reported in the literature with this microorganism as the causal agent. With this case, we would like to emphasize the importance to do a culture of the ocular secretion (if it exists) because this allowed us to determine an infrequent agent of this disease.

La celulitis periorbitaria es una patología muy frecuente en la población pediátrica. Se define como la infección que compromete los tejidos blandos adyacentes a la órbita sin atravesar el septum orbitario. Después de la introducción de la vacuna contra Haemophilus influenzae, los patógenos involucrados, generalmente, son cocos Gram-positivos. A continuación, se presenta un caso de celulitis periorbitaria asociada a conjuntivitis purulenta por Neisseria gonorrhoeae en un niño de 2 años y 10 meses. Existen pocos casos descritos en la literatura en los que este microorganismo aparece como agente causal de celulitis periorbitaria. Con este caso, se quiere resaltar la importancia de la toma de cultivo en los pacientes que concomitantemente presenten conjuntivitis bacteriana y secreción purulenta, ya que esto facilitó el diagnóstico de esta patología por un agente etiológico poco frecuente.

Prognostic relevance of Src activation in stage II-III colon cancer.

Src belongs to a family of cytoplasmic tyrosine kinases that play a key role in tumor initiation and progression. Src activation has been associated with a more aggressive neoplastic phenotype and induces resistance to platinum agents in preclinical models. The aim of our study was to assess the prognostic and/or predictive value of Src activation in patients with stage II-III colon cancer. pSrc expression was assessed in paraffin-embedded tumor samples by immunohistochemistry (phospho-Y418, ab4816; Abcam). Cases were classified by staining intensity in 4 categories: no staining (0), weak (1+), moderate (2+), and intense (3+) staining. A total of 487 patients were evaluated (240 stage II, 247 stage III), of whom 298 (61%) had received adjuvant chemotherapy. Staining was absent in 78 (16%), weak in 262 (54%), moderate in 103 (21%), and intense in 44 (9%). High pSrc expression was significantly associated with decreased 5-year disease-free survival (39% versus 63% for patients with high versus low pSrc expression; hazard ratio, 0.56; P=.005) and overall survival (58% versus 74%; hazard ratio, 0.55; P=.02). Multivariate analysis confirmed pSrc expression as a significant prognostic factor both for disease-free survival and overall survival, independent of age, sex, tumor stage, bowel obstruction/perforation, or adjuvant chemotherapy. These findings illustrate the relevance of Src activation in colon cancer biology, conferring a poor prognosis to patients with early stage colon cancer regardless of adjuvant chemotherapy. Our findings may help improve prognostic stratification of patients for clinical decisions and open new avenues for potential pharmacologic manipulation that may eventually improve patients' outcomes.

A Transposon-based Analysis Reveals RASA1 Is Involved in Triple-Negative Breast Cancer.

RAS genes are mutated in 20% of human tumors, but these mutations are very rare in breast cancer. Here, we used a mouse model to generate tumors upon activation of a mutagenic T2Onc2 transposon via expression of a transposase driven by the keratin K5 promoter in a p53+/- background. These animals mainly developed mammary tumors, most of which had transposon insertions in one of two RASGAP genes, neurofibromin1 (Nf1) and RAS p21 protein activator (Rasa1). Immunohistochemical analysis of a collection of human breast tumors confirmed that low expression of RASA1 is frequent in basal (triple-negative) and estrogen receptor negative tumors. Bioinformatic analysis of human breast tumors in The Cancer Genome Atlas database showed that although RASA1 mutations are rare, allelic loss is frequent, particularly in basal tumors (80%) and in association with TP53 mutation. Inactivation of RASA1 in MCF10A cells resulted in the appearance of a malignant phenotype in the context of mutated p53. Our results suggest that alterations in the Ras pathway due to the loss of negative regulators of RAS may be a common event in basal breast cancer. Cancer Res; 77(6); 1357-68. ©2017 AACR.