espanolIntroduccion: El factor de esteroidogenesis 1 (SF-1), codificado por el gen NR5A1, juega un papel fundamental en el desarrollo de la glandula adrenal, de la funcion reproductiva, del bazo y del hipotalamo medial. Su alteracion, fundamentalmente por variantes patogenicas en heterocigosis, se relaciona con desordenes en el desarrollo y diferenciacion sexual. Aunque puede afectar a ambos sexos, las mutaciones se han descrito principalmente en varones con hipospadias, micropene, criptorquidia, infertilidad y/o anorquia. Caso clinico: Paciente de 13 anos con hipospadias y micropene en el que se ha identificado el cambio p.Ser203Ile en heterocigosis en el gen NR5A1, que no ha sido descrito previamente en la literatura. Discusion: El espectro clinico de las variantes patogenicas del gen NR5A1 que alteran la proteina SF-1 es heterogeneo, pudiendo asociar, en el caso de los varones, alteraciones en el desarrollo y descenso testicular, en la esteroidogenesis, en la funcion adrenal y anomalias esplenicas. En nuestro paciente, las anomalias consisten en micropene e hipospadias pero las gonadas se situan en posicion escrotal, los valores de testosterona son adecuados al desarrollo puberal, los valores de ACTH y cortisol estan dentro de la normalidad y la ecografia abdominal no muestra anomalias del bazo. Este tipo de alteraciones geneticas deben tenerse en cuenta en varones con micropene, hipospadias y criptorquidia. En el caso de confirmarse, se debe hacer un cribado y seguimiento del resto de alteraciones que pueden asociarse. EnglishIntroduction: The steroidogenesis factor 1 (SF-1), encoded by the NR5A1 gene, plays a fundamental role in the development of the adrenal gland, reproductive function, spleen and medial hypothalamus. Its alteration, mainly due to mutations in heterozygosis, is related to disorders of sex development. Although it can affect both sexes, mutations have been described mainly in males with hypospadias, micropenis, cryptorchidism, infertility and/or anorchia. Case report: A 13-year-old patient with hypospadias and micropenis in whom p.Ser203Ile change was identified in heterozygosis in the NR5A1 gene, which has not been previously described in the literature. Discussion: The clinical spectrum of the mutation of the SF-1 gene is heterogeneous, being able to associate, in the case of male patients, alterations in the development and testicular descent, in the steroidogenesis, in the adrenal function and splenic anomalies. In our patient, the anomalies consist of micropenis and hypospadias but the gonads are placed in the scrotal position, the testosterone values are adequate for pubertal development, the values of ACTH and cortisol are within normal and the abdominal ultrasound does not show splenic anomalies. This type of genetic alterations should be taken into account in males affected by micropenis, hypospadias and cryptorchidism. In the case of confirmation, a screening and monitoring of the rest of the alterations that can be associated should be done.
espanolIntroduccion: Existen pocos estudios sobre la recomendacion de soluciones de aguas de mar y el grado de adherencia y satisfaccion de los pacientes/usuarios. Objetivo: Analizar el perfil de recomendacion del medico de los lavados nasales con solucion isotonica de agua de mar, el seguimiento y la satisfaccion del usuario. Material y metodos: Estudio observacional, epidemiologico, transversal y multicentrico basado en un registro medico y una encuesta telefonica estructurada a pacientes/usuarios de lavados nasales con agua de mar. Resultados: Participaron 175 medicos (87 pediatras, 53 otorrinolaringologos, 35 alergologos) y se entrevistaron por telefono 1.350 usuarios. Los principales motivos de recomendacion: congestion nasal (65,2%), rinitis (34,6%) e higiene (30,6%). La pauta mas recomendada es 3 lavados/dia durante 3 semanas. El 95% de los usuarios siguio las instrucciones del medico. El principal beneficio es la mejora de la congestion nasal (85,2%), la mucosidad (77,7%) y la dificultad para respirar (72,2%). Un 66,4% refirio haber acortado los dias de enfermedad y un 52,8% reducir el uso de medicamentos. La valoracion global fue buena o muy buena en el 93,85% de los casos. Conclusiones: El seguimiento del paciente/usuario de la recomendacion medica sobre lavados nasales con soluciones de agua de mar es alto y no interfiere de manera importante con su rutina diaria. Sus principales beneficios son la reduccion de la congestion nasal, la mucosidad y la dificultad para respirar, asi como el acortamiento de los dias de enfermedad y el menor consumo de medicamentos. Dos de cada tres lo consideran mejor que el suero fisiologico tradicional. EnglishIntroduction: There are few studies on the criteria for recommending the physiological seawater solutions and the adherence and satisfaction of the patients/users. Objective: Analyze the medical recommendation profile of nasal washes with isotonic solution of seawater, the follow-up of recommendation and overall satisfaction of the users. Materials and methodology: Observational, epidemiological, cross-sectional and multi-center study based on a medical record and a structured telephone survey of patients/users of nasal washes with isotonic microdiffusion of sea water. Results: A total of 175 physicians participated (87 paediatricians, 53 otolaryngologists and 35 allergists) and 1350 users were interviewed by telephone. The main reasons for recommendation: nasal congestion (65.2%), rhinitis (34.6%) and hygiene (30.6%). The most recommended pattern was 3 washes daily for 3 weeks. 95% of users followed the doctor's instructions. The main benefits were improvement of nasal congestion (85.2%), mucus (77.7%), rhinorrhea (75.6%) and difficulty in breathing (72.2%). 66.4% reported having shortened sick days and 52.8% that had reduced the use of other medications. The overall assessment of the product was good or very good in 93.85% of the cases. Conclusions: The follow-up by the patient/user of medical recommendation on nasal washes with seawater solutions is high and does not interfere in an important way with the daily routine of patient. The main benefit is the reduction of nasal congestion, mucus and difficulty in breathing, as well as the shortening of sick days and the lower consumption of medications. Two out of three subjects consider their use better than traditional physiological saline.
espanolIntroduccion: La onicocriptosis o una incarnata es una patologia altamente prevalente en la poblacion pediatrica. El abordaje quirurgico es el tratamiento definitivo en estadios avanzados, siendo la onicectomia con matricectomia quimica y la mecanica las tecnicas mas utilizadas. El objetivo de este estudio es comparar la tasa de recidivas locales de ambas tecnicas quirurgicas. Poblacion y metodos: Se realiza un estudio ambispectivo entre 2010 y 2017 en pacientes con diagnostico de onicocriptosis que fueron intervenidos quirurgicamente. Grupo A: onicectomia parcial con matricectomia quimica con fenol. Grupo B: matricectomia por abrasion mecanica. Se recogen variables demograficas, quirurgicas, postoperatorias inmediatas y complicaciones a largo plazo. El analisis estadistico se realizo con el programa estadistico SPSS Statics version 22, considerandose significacion estadistica un valor de p Resultados: Un total de 87 pacientes se incluyeron en el estudio. En el grupo A (12 pacientes), 2 casos (16,7%) presentaron celulitis locales postoperatorias, 4 casos (33%) presentaron recidivas ipsilaterales y uno de ellos, una segunda recidiva. En el grupo B (75 pacientes) no se describen complicaciones postoperatorias inmediatas y 7 pacientes (9%) padecieron recidivas ipsilaterales, de los cuales 3 tuvieron una segunda recidiva. Ambos grupos presentaron diferencias estadisticamente significativas en el indice de recidivas (p= 0,04). Conclusion: En nuestra experiencia la onicectomia parcial con matricectomia mecanica por abrasion presenta una baja tasa de complicaciones y de recidivas locales respecto a la fenolizacion en poblacion pediatrica. Es necesaria la realizacion de nuevos estudios prospectivos aleatorizados para confirmar esta diferencia. EnglishIntroduction: The onychocryptosis in the pediatric population is a highly prevalent pathology. The surgical approach is the treatment of choice in advanced stages with two different techniques, onicectomy with matricectomy by chemical or mechanical abrasion. The purpose of this study is to compare the local recurrences in these two different approaches. Material and methods: This is an ambispective cohort study between 2010 and 2017 in two groups. Group A: partial onicectomy with matricectomy by chemical abrasion with phenol. Group B: matricectomy by mechanical abrasion. Demographic, surgical, immediate postoperative variables and long-term complications are compared. The statics was performed with the SPSS Static 22 software. P value Results: The study included 87 patients. In group A (12 patients), or chemical matricectomy two cases (16.7%) presented local cellulitis, 4 cases (33%) presented a local recurrence and one of them suffered from a second recurrence. Group B (75 patients) or mechanical matricectomy, did not show immediate postoperative complications and 7 patients (9%) suffered from an ipsilateral recurrence. A second recurrence appeared in three of them. The differences in the recurrence rate between group A and B were statistically significant (p = 0.04). Conclusion: In our experience partial onicectomy with matricectomy by mechanical abrasion in onychocryptosis has a low rate of complications and local recurrences compared to phenolization in pediatric patients. It is necessary to perform new randomized and prospective studies to confirm this difference.
espanolLa infeccion por rotavirus continua siendo un problema relevante de salud publica en los paises desarrollados, y los ninos prematuros constituyen la poblacion mas vulnerable tanto en terminos de riesgo de infeccion como por la gravedad de la misma. En la actualidad existen dos vacunas frente a rotavirus disponibles en Espana: la vacuna pentavalente bovina-humana reordenada (RotaTeq®, MSD) y la monovalente humana atenuada (Rotarix®, Glaxo-SmithKline Biologicals). Los datos de los ensayos clinicos y estudios observacionales indican que la vacunacion anti-rotavirus en ninos prematuros es bien tolerada y segura, con un perfil similar en este sentido al observado en ninos nacidos a termino. Por otra parte, los resultados de los estudios clinicos y observacionales tambien apoyan una eficacia similar a la comunicada en ninos a termino. Mas aun, al tratarse de un grupo de mayor riesgo de infecciones, es posible teoricamente que el beneficio obtenido sea incluso mayor que en ninos a termino. La transmision horizontal del virus vacunal, aun siendo posible, no ha sido documentada en ensayos clinicos y los estudios observacionales existentes hasta ahora sugieren un riesgo bajo. En consonancia con diversas recomendaciones nacionales e internacionales, consideramos que esta poblacion, siempre que su condicion clinica lo permita, debe recibir la vacunacion frente a rotavirus sin retrasos, incluyendo su vacunacion mientras esten hospitalizados, si asi fuese necesario. EnglishRotavirus infection continues to be a relevant public health problem in developed countries and premature children constitute a more vulnerable population both in terms of risk and severity of infection. Currently, there are two available vaccines against rotavirus in Spain: the pentavalent bovine-human reasortant vaccine (RotaTeq®, MSD) and the attenuated human monovalent vaccine (Rotarix®, GlaxoSmithKline Biologicals). Results from clinical trials and from observational studies indicate that anti-rotavirus vaccination in preterm infants is well tolerated and safe, with a similar profile in this regard to that reported in full-term infants. On the other hand, the results of clinical trials and observational studies also support efficacy similar to that reported in children at term. Moreover, as it is a group with a higher risk of infections, it is theoretically possible that the benefit obtained is even greater than in full-term children. The virus transmission to unvaccinated contacts, although possible, has not been documented in clinical studies and the studies published to date so far suggest a low risk in this regard. Consistently with various national and international recommendations, these authors therefore consider that this population, whenever its clinical condition permits, should receive vaccination against rotavirus without delays, including vaccination while hospitalized, if necessary
espanolIntroduction: Intussusception is the most common cause of intestinal obstruction between 6 months and 3 years, having a pathological lead point in 0,3-20% of cases. Meckel´s diverticulum is a frequent cause of secondary intussusception, which treatment is mostly surgical. Methods: This work is a retrospective review of 130 patients diagnosed as intussusceptions. The samples were taken between 2013 and 2018, at the Department of Pediatric Emergency from the Hospital 12 de Octubre (Madrid). Results: Pathological lead point was identified in ten cases (out of 130 patients): 5 intestinal lymphomas, 4 Meckel's diverticulums and 1 intestinal duplication cyst. Secondary intussusception was more common in males (4:1); children older than 3 years (60%); and patients with ileocolic intussusception (90%). Meckel's diverticulum affected 4 children between 1 to 4 years old, 3 males and 1 female. All were diagnosed for the intestinal invagination by ultrasound, but only in one case it suggested Meckel's diverticulum. Required surgical treatment always included manual reduction of intussusceptions, followed of diverticulectomy or intestinal resection plus anastomosis. Conclusions: Secondary intussusception is more common in children older than 3 years where conservative treatment fails. Meckel's diverticulum is one of the most common causes of secondary invagination, its clinical manifestations are not specific and, at present, its preoperative diagnosis is challenging. Currently, the use of the laparoscopic/laparoassisted approach is limited for the treatment of invaginations. EnglishIntroduction: Intussusception is the most common cause of intestinal obstruction between 6 months and 3 years, having a pathological lead point in 0,3-20% of cases. Meckel´s diverticulum is a frequent cause of secondary intussusception, which treatment is mostly surgical. Methods: This work is a retrospective review of 130 patients diagnosed as intussusceptions. The samples were taken between 2013 and 2018, at the Department of Pediatric Emergency from the Hospital 12 de Octubre (Madrid). Results: Pathological lead point was identified in ten cases (out of 130 patients): 5 intestinal lymphomas, 4 Meckel's diverticulums and 1 intestinal duplication cyst. Secondary intussusception was more common in males (4:1); children older than 3 years (60%); and patients with ileocolic intussusception (90%). Meckel's diverticulum affected 4 children between 1 to 4 years old, 3 males and 1 female. All were diagnosed for the intestinal invagination by ultrasound, but only in one case it suggested Meckel's diverticulum. Required surgical treatment always included manual reduction of intussusceptions, followed of diverticulectomy or intestinal resection plus anastomosis. Conclusions: Secondary intussusception is more common in children older than 3 years where conservative treatment fails. Meckel's diverticulum is one of the most common causes of secondary invagination, its clinical manifestations are not specific and, at present, its preoperative diagnosis is challenging. Currently, the use of the laparoscopic/laparoassisted approach is limited for the treatment of invaginations
espanolIntroduccion: Este sindrome define la compresion de la vena renal izquierda entre la aorta y la arteria mesenterica superior, provocando una presion elevada de dicha vena renal con posible desarrollo de venas colaterales. Clinicamente, aparece hematuria intermitente, proteinuria con o sin dolor abdominal o en hemiabdomen izquierdo. Casos clinicos: Presentamos 15 ninos de entre 7 y 13 anos, la mayoria con examen fisico normal y clinica de dolor abdominal o del flanco izquierdo con presion arterial normal (46,6%); hallazgos urinarios: hematuria no glomerular (20%) y proteinuria de rango no nefrotico (20%), con microalbumina inferior a 300 mg en orina de 24 horas. Un paciente (6,7%) presento proteinuria asociada a glucosuria e hipertension. Las mediciones de ultrasonografia Doppler del diametro anteroposterior (AP) y las velocidades maximas de la vena renal izquierda son diagnosticas: dilatacion y enlentecimiento del flujo proximal a la pinza aortomesenterica, disminucion del calibre con flujo acelerado a nivel distal y angulo de la pinza menor de 30o. En dos casos preciso angio-TAC, mostrando la vena renal izquierda comprimida entre la aorta y la arteria mesenterica superior. La angiografia por RM ofrece una excelente definicion anatomica. El tratamiento es conservador. Puede ser necesario tratamiento con inhibidores de la enzima convertidora de la angiotensina, intervenciones quirurgicas o procedimientos extravasculares. Conclusion: Sospechar SHVR ante la presencia de hematuria, proteinuria, dolor abdominal recurrente, diagnostico que requiere alto indice de sospecha. Precisa ecografia. En casos seleccionados, angio-TAC, RM o flebografia, siendo esta ultima el gold standard para el diagnostico, que no suele precisarse. EnglishIntroduction: This syndrome defines the compression of the left renal vein between the aorta and the superior mesenteric artery, causing an elevated pressure of said renal vein with possible development of collateral veins. Clinically, intermittent hematuria, proteinuria appears with or without abdominal pain or in the left abdomen. Clinical cases: We present 15 children between 7 and 13 years old. Most with normal physical and clinical examination of abdominal or left flank pain with normal blood pressure (46.6%); urinary findings: non-glomerular hematuria (20%) and non-nephrotic range proteinuria (20%), with microalbumin less than 300 mg in 24-hour urine. One patient (6.7%) presented proteinuria associated with glucosuria and hypertension. Doppler ultrasound measurements of the anteroposterior diameter (AP) and the maximum velocities of the left renal vein are diagnostic: dilatation and slowing of the flow proximal to the aortomesenteric clamp, decrease in caliber with accelerated flow at the distal level and angle of the clamp less than 30o. In two cases, angio-TAC was required, showing the compressed left renal vein between the aorta and the superior mesenteric artery. MR angiography offers excellent anatomical definition. The treatment is conservative. Treatment with angiotensin-converting enzyme inhibitors, surgery, or extravascular procedures may be necessary. Conclusion: Suspect RVS, in the presence of hematuria, proteinuria, recurrent abdominal pain, a diagnosis that requires a high index of suspicion. Requires ultrasound. In selected cases, CT angiography, MRI or phlebography, the latter being the gold standard for diagnosis, which is not usually required.
Black hairy tongue is a tongue papillary hypertrophy that acquires a hairy appearance due to the keratin cluster as well as a blackish colour because of the proliferation of pigmented bacteria. It is a benign process of unknown etiology. The antibiotic use is the most commonly involved etiologic factor. Its appearance is anecdotal in pediatric age range. In this article, the case of a 2 month old breastfed baby with a black lesion on a whitish base in the tongue, firstly diagnosed with oral candidiasis, will be described. The antifungal treatment wasn't successful. The results of the bacterial and fungal cultures were negative. The patient remained asymptomatic and the lesion improved progressively. Black hairy tongue was diagnosed. Its diagnosis is clinical. It is essential to do a differential diagnosis with oral candidiasis as well as with dark pigmentation due to food or drug ingestion, congenital lingual melanotic macule and oral hairy leukoplakia. It is a self-limited case that can improve with the use of queratinolitic substances.
espanolIntroduccion: En la enfermedad celiaca las manifestaciones extraintestinales, con ausencia de las intestinales clasicas, son cada vez mas frecuentes. La ataxia por gluten es una manifestacion frecuente en adultos con celiaquia, pero en pediatria se considera excepcional. Caso clinico: Presentamos un caso de un nino de 11 anos con ataxia progresiva de dificil diagnostico, con marcadores serologicos de celiaquia practicamente normales y con diagnostico por biopsia intestinal, y con respuesta positiva a inmunoglobulinas intravenosas y dieta libre de gluten. Conclusion: Puede resultar recomendable en pacientes con ataxia cerebelosa realizar un tipado de HLA junto a valoracion de serologia de celiaquia, y en caso de sospecha realizar panendoscopia digestiva oral. EnglishIntroduction: Extraintestinal manifestations in the celiac disease, in absence of the classic intestinal ones, are increasingly frequent. Gluten ataxia is a frequent manifestation in adults with celiac disease. It is, nonetheless, considered exceptional in pediatrics. Case report: We present a case of an 11-year-old boy with progressive ataxia difficult to diagnose, with practically normal serologic markers of celiac disease, diagnosed by intestinal biopsy and with a positive response to intravenous immunoglobulins and a gluten-free diet. Conclusion: It may be advisable in patients with cerebellar ataxia to perform an HLA typing along with an assessment of celiac disease serology, and in case of suspicion of performing oral digestive panendoscopy.
espanolIntroduccion: La microduplicacion distal 22q11.2 es una entidad rara, pero de la que estan apareciendo cada vez mas casos en la literatura, ampliando en cada referencia el espectro de manifestaciones. Presentamos dos casos dentro de la misma familia. Presentacion del caso: El caso indice es un recien nacido prematuro, con historia clinica neonatal de sepsis precoz, displasia broncopulmonar, ductus arterioso persistente, hiperbilirrubinemia que precisa exanguinotransfusion, raquitismo grave e hipoacusia neurosensorial profunda bilateral. En su seguimiento evolutivo destacan la talla baja, asi como unos rasgos dismorficos, entre los que resaltan macrocefalia con frente amplia, epicanto y braquidactilia. En la RMN de craneo se detecta ventriculomegalia, sin otras alteraciones, y a los 4 anos de edad presenta moderado retraso del lenguaje. Su madre tiene unos rasgos faciales similares, con baja estatura e hiperlordosis, pero sin alteraciones en el aprendizaje. Se realiza hibridacion genomica comparativa (aCGH), demostrando una secuencia duplicada de 1,5 Mb en la region 22q11.2, tanto en el paciente como en su madre. Discusion: La microduplicacion distal de la region 22q11.2 se presenta con una amplia variabilidad clinica, tanto interindividual como dentro de una misma familia. Es dificil una sospecha clinica previa, realizandose el diagnostico gracias al estudio con aCGH EnglishIntroduction: Distal chromosome 22q11.2 microduplication is a rare condition, but increasingly reported in the medical literature. It is often inherited and shows phenotypic variability. We report two cases in the same family. Case report: The index case is a preterm newborn with a neonatal clinical history of early-onset sepsis, bronchopulmonary dysplasia, patent ductus arteriosus, exchange transfusion for hyperbilirubinemia, severe rickets and profound bilateral sensorineural hearing loss. As the patient grew, he presented with short stature, broad forehead, macrocephaly, epicanthal folds and brachydactyly. A MRI was performed revealed mild ventriculomegaly. At the age of 4, he has moderate language disability. His mother shows similar dysmorphic features plus lumbar hyperlordosis but without learning disabilities. CGH-Array revealed a 1.5 Mb duplication of chromosome 22q11.2 in both the proband and his mother. Discussion: Distal 22q11.2 microduplication presents with a broad range of characteristics, and inter-individual and intra-familial clinical variability. The diagnosis is usually made by CGH-Array.
espanolIntroduccion: La deteccion de errores innatos del metabolismo (EIM), endocrinopatias, hemoglobinopatias y otros trastornos por medio del cribado metabolico neonatal es una iniciativa de salud mundial que comenzo hasta el ano 1973 en Mexico. La incidencia nacional de este grupo de enfermedades es incierta debido a la falta de programas de cribado metabolico neonatal ampliado (CMNA), aunada a la carencia de publicaciones relacionadas. Para el presente manuscrito, la incidencia de EIM en el noreste de Mexico se estima a partir de un programa de CMNA en hospitales privados del Grupo Christus Muguerza. Material y metodos: El estudio fue retrospectivo e incluyo la revision de resultados de 19.768 recien nacidos (RN), obtenidos de marzo de 2006 a febrero de 2017. Resultados: El programa de CMNA detecto a 60 RN con algun EIM u otro trastorno y 104 fueron identificados como heterocigotos, presentando una incidencia de 30,4 y 52,7 por cada 10.000 RN, respectivamente. El diagnostico mas frecuente fue la deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD); y en el caso de los heterocigotos, las hemoglobinopatias. La combinacion de tecnologias en el cribado resulto en una especificidad del 99,95%, una sensibilidad cercana al 100% y un valor predictivo positivo del 86,96%. Conclusiones: Los programas de CMNA ofrecen la posibilidad de detectar y confirmar un diagnostico temprano para ofrecer un tratamiento especifico, en combinacion con un asesoramiento genetico. Por otro lado, estos resultados proporcionan una estimacion de la incidencia de los EIM, endocrinopatias, hemoglobinopatias y otros trastornos en un grupo de hospitales privados en Mexico. EnglishIntroduction: The detection of inborn errors of metabolism (IEM), endocrinopathies, hemoglobinopathies, and other disorders through newborn screening (NBS) is a global health initiative that began until 1973 in Mexico. The national incidence of this group of diseases is uncertain due to the lack of NBS programs and related publications. For the present manuscript, the incidence of a specific group of IEM, endocrinopathies, hemoglobinopathies, and other disorders in newborns was estimated from an NBS program implemented in a private group of hospitals part of Grupo Christus Muguerza located northeast of Mexico. Material and methods: This retrospective study included the examination of 19,768 newborns’ results obtained from the NBS program from March 2006 to February 2017. Results: The NBS program found 60 newborns with an IEM or other disorder and 104 were identified as carriers, with an incidence of 30.4 and 52.7 per 10,000 newborns, respectively. The most frequent diagnosis was glucose-6-phosphate dehydrogenase deficiency (G6PD); and in the case of carriers, were hemoglobinopathies. The combination of screening technologies showed a specificity of 99.95%, a sensitivity close to 100%, and a positive predictive value of 86.96%. Conclusions: The benefit of an NBS program is to stablish an early diagnosis to offer prompt treatment and proper genetic counseling. Furthermore, these results provide an estimation of IEM, endocrinopathies, hemoglobinopathies, and other disorders incidence in a group of private hospitals in Mexico.
espanolIntroduccion: La hiperleucocitosis y la hipertension pulmonar son factores de riesgo de mortalidad en ninos con tosferina maligna. Las opciones terapeuticas disponibles para estos casos graves no se encuentran bien establecidas. Poblacion y metodos: Se diseno un estudio ambispectivo que incluia a ninos diagnosticados de tosferina ingresados en una Unidad de Cuidados Intensivos Pediatricos (UCIP) de un hospital de tercer nivel en Espana entre enero de 2007 y octubre de 2015. Se compararon variables clinicas y demograficas entre el grupo de ninos que sobrevivieron (grupo de supervivientes [GS]) y los que finalmente fallecieron (grupo exitus [EG]). Resultados: Se identificaron un total de 31 pacientes. La mortalidad global fue del 19% (6/31 pacientes). Cinco ninos fueron diagnosticados de hipertension pulmonar. Cinco de seis ninos que finalmente fallecieron precisaron canulacion en oxigenacion por membrana extracorporea (ECMO). Ocho pacientes recibieron terapia mediante exanguinotransfusion (ET). La mediana de leucocitos antes de la realizacion de ET fue mayor (81.300 cel./μL) en EG que en GS (57.400 cel./μL), p= 0,05. Los pacientes que fallecieron tuvieron un mayor recuento pico de leucocitos totales, linfocitos, neutrofilos y niveles de proteina C reactiva (PCR) que los ninos que sobrevivieron. Las variables que se identificaron como factores de riesgo de mortalidad fueron: una frecuencia cardiaca mayor de 170 lpm (OR 18; IC del 95%: 1,7-192,0), la presencia de neumonia (OR 16,5; IC del 95%: 1,7-165) y la presencia de hipertension pulmonar (OR 179,6 [6,4-5.027]). Conclusion: El uso de variables sencillas como la frecuencia cardiaca, el recuento total de leucocitos o los valores de PCR pueden servir para identificar de forma precoz a pacientes con riesgo de hipertension pulmonar y tosferina maligna, de forma que procedimientos invasivos como la ET puedan utilizarse de una forma mas precoz. EnglishBackground: Hyperleukocytosis and pulmonary hypertension are risk factors for death in infants with severe pertussis. Treatment options in severe pertussis are not well-established. Methods: We designed an ambispective study of children with pertussis admitted to the pediatric intensive care unit (PICU) of a tertiary level hospital in Spain from January 2007 to October 2015. Clinical and demographical variables were compared between the group of children who survived (survivors group or SG) and those children who died (exitus group or EG). Results: Thirty-one children were identified. Overall mortality rate was 19% (6/31 patients). Five children had pulmonary hypertension. Five out of 6 infants who eventually died had been placed on ECMO. Eight infants needed exchange transfusion (ET). Median leukocyte count immediately before exchange transfusion was higher (81300 cel./μL) in EG than in SG (57400 cel./μL), p= 0.05. Children who died had higher peak values in white blood cell counts (WBC), lymphocyte count, neutrophil counts and PCR levels than children who survived. The following variables were associated with risk of death: a heart rate above 170 bpm (OR 18, CI 95%: 1.7-192,0), the presence of pneumonia (OR 16.5, CI 95%: 1.7-165) and pulmonary hypertension (OR 179,6 [6,4-5027]. Conclusion: Early identification of patients at risk for pulmonary hypertension and fatal pertussis using heart rate, WBC and PCR levels would be appropriate so that invasive procedures such as exchange transfusion could be carried out precociously.
espanolLa enfermedad pulmonar intersticial (EPI) es una entidad que incluye patologias raras de baja prevalencia, que involucran factores geneticos y ambientales, caracterizados por la remodelacion del intersticio y los espacios aereos pulmonares. La hiperplasia de celulas neuroendocrinas es una enfermedad rara del pulmon descrita por primera vez en 2005, caracterizada por retracciones de costillas, taquipnea e hipoxemia. El diagnostico es clinico junto con la imagen de la tomografia computarizada de alta resolucion (TACAR), siendo excepcional la necesidad de biopsia pulmonar. El tratamiento es sintomatico, con pronostico incierto, mejorando los sintomas con el tiempo, aunque en ciertas ocasiones pueden persistir durante anos. EnglishInterstitial lung disease (ILD) is an entity that includes rare pathologies of low prevalence, involving genetic and environmental factors, characterized by the remodeling of the interstitium and lung air spaces. Neuroendocrine cell hyperplasia is a rare disease of the lung described for the first time in 2005, characterized by rib retractions, tachypnea and hypoxemia. The diagnosis is clinical along with the image of the high resolution computerized tomography (HRCT), the need for lung biopsy being exceptional. The treatment is symptomatic, with uncertain prognosis, improving the symptoms over time, although in certain occasions they may persist for years.
espanolIntroduccion: La histiocitosis es una patologia infrecuente consistente en una proliferacion incontrolada y acumulacion de celulas de Langerhans, mas frecuente en hueso con una clinica poco especifica. El numero y tipo de organos afectados es lo que marca la clasificacion y la necesidad de tratamiento quimioterapico en esta patologia. Caso clinico 1: Presentamos un caso de histiocitosis osea que es interpretado inicialmente como hematoma. Caso clinico 2: Presentamos un caso de histiocitosis osea que debuta como otorrea de 4 semanas de evolucion, siendo diagnosticada al inicio de otitis purulenta. Conclusiones: A pesar de su rareza, la histiocitosis es una enfermedad a tener en cuenta al evaluar la persistencia de lesiones, tumoraciones o patologia que en un primer momento puede parecer banal. Los avances respecto al conocimiento de la patogenesis de esta enfermedad y el descubrimiento de genes implicados abren el camino a nuevas terapias dirigidas. EnglishIntroduction: Histiocytosis is an uncommon pathology, consisting of an uncontrolled proliferation and accumulation of Langerhans cells. It most often affects the bones with an unspecified clinical presentation. The amount and kind of affected organs is what marks the classification and the necessity of chemotherapy treatment in this pathology. Clinical case 1: We present a case of histiocytosis of bone initially interpreted as an hematoma. Clinical case 2: We present a case of histiocytosis of bone which starts as an otorrhea lasting 4 weeks. It was diagnosed at the beginning with purulent otitis. Conclusions: Despite its infrequency, histiocytosis is a disease that should be considered when assessing the persistence of lesions, tumors or pathology that may initially seem banal. Advances in the knowledge of the pathogenesis of this disease and the discovery of the genes involved open the way to new targeted therapies.
espanolLa eritrodermia ictiosiforme congenita ampollosa es una entidad poco frecuente, con herencia autosomica dominante, pero un 50% se presenta por mutaciones de novo; se caracteriza en su fase inicial por eritrodermia y aparicion espontanea de ampollas. Posteriormente las ampollas disminuyen en frecuencia y aparece una descamacion que compromete toda la superficie corporal. No suele haber afectacion palmoplantar ni de las mucosas. Su tratamiento de primera linea son los retinoides sistemicos junto a los cuidados de la piel. EnglishCongenital bullous ichthyosiform erythroderma is a rare entity, with autosomal dominant inheritance, but in 50% of cases it is presented by de novo mutations; is characterized in its initial phase by erythroderma and spontaneous appearance of blisters. Subsequently the blisters decrease in frequency and appears a scaling that compromises the entire body surface. There is usually no palmoplantar or mucosal involvement. Its first-line treatment is systemic retinoids along with skin care.
espanolIntroduccion y objetivo: El volvulo gastrico es una entidad que puede manifestarse con un amplio espectro clinico, lo que puede llevar a un retraso en el diagnostico y tratamiento. El objetivo de nuestro trabajo es definir los tipos de volvulo gastrico, analizando los factores predisponentes, la clinica, los hallazgos radiologicos y el tratamiento de cada uno de ellos. Material y metodos: Se realizo un estudio descriptivo retrospectivo de los volvulos gastricos diagnosticados en un hospital terciario durante un periodo de 10 anos (2006-2016). Se incluyeron 32 pacientes, que se clasificaron en tres grupos en funcion de la presentacion clinica: 7 con la forma aguda, 12 con la forma cronica y 13 con la forma neonatal-lactante. Se recogieron datos epidemiologicos, clinicos, diagnosticos y de manejo de cada caso. Resultados: El volvulo gastrico organo-axial fue el subtipo mas frecuente al analizar la totalidad de los pacientes (81%), aunque en la presentacion aguda el mas prevalente fue el mesenterico-axial (86%). En la forma aguda, la clinica mas frecuente fue los vomitos no biliosos (86%), siendo en la forma cronica la sintomatologia mas variada. El diagnostico se realizo con transito gastroduodenal en la mayoria de los casos. Las opciones de tratamiento fueron cirugia o medidas conservadoras, en funcion del tipo de volvulo gastrico. Conclusiones: Existen distintas formas de presentacion del volvulo gastrico (aguda, cronica, neonatal-lactante), cada una con una sintomatologia y manejo diferentes. Dada la clinica inespecifica, es importante conocer los factores predisponentes y los hallazgos que aumentan su sospecha en la radiografia. La prueba de eleccion para su diagnostico es el transito gastroduodenal. EnglishIntroduction and objective: Gastric volvulus is an entity with a broad clinical spectrum, which can lead to a delay in diagnosis and treatment. The purpose of this study is to define the types of gastric volvulus, analyzing the predisposing factors, clinical, radiological findings and treatment of each one. Materials and methods: A retrospective, descriptive study of the gastric volvulus diagnosed at a tertiary hospital was carried out during a period of 10 years (2006-2016). Thirty-two patients were included, which were classified into three groups according to the clinical presentation: 7 with the acute form, 12 with the chronic form and 13 with the neonatal form. Epidemiological, clinical, diagnostic and management data were collected for each case. Results: Organo-axial gastric volvulus was the most frequent subtype of all the sample (81%), although in the acute presentation, the most prevalent subtype was the mesentero-axial (86%). In the acute form, the most common symptom was non-bilious vomiting (86%), whereas in the chronic form the clinical presentation was more varied. The diagnosis was made with upper gastrointestinal series in most cases. Surgical or conservative treatment were chosen depending on the type of gastric volvulus. Conclusions: There are different forms of presentation of gastric volvulus (acute, chronic, neonatal), with different clinical features and implications with respect to treatment options. Due to its nonspecific clinical presentation, it is important to know the predisposing factors and the common radiological findings highly suggestive of the diagnosis. An upper gastrointestinal series is the study of choice for its diagnosis.
espanolLa desnutricion neonatal supone uno de los principales retos diagnosticos en la practica diaria. Ante un neonato con desnutricion sera necesario descartar las causas que con mas frecuencia pueden producirla, pero tambien sospechar otras mas inusuales como es la infeccion por el virus de la inmunodeficiencia humana. Se presenta el caso de un neonato varon de 27 dias de vida que presentaba una desnutricion neonatal grave, realizandose el diagnostico diferencial del mismo y una revision bibliografica a proposito del tema. EnglishNeonatal malnutrition is one of the main diagnostic challenges in the daily practice. It will always be necessary to discard the causes that more frequently can produce it, but also is important to take into account other more unusual causes. We present the case of a 27-day-old male neonate with severe neonatal malnutrition and we make a differential diagnosis and a literature review of the subject.
espanolIntroduccion: El sindrome confusional agudo (SCA), tambien denominado delirium, es un sindrome mental organico transitorio en el que se alteran de forma variable las funciones cognitivas, en especial la atencion. Es mas frecuente en ancianos y ninos, aunque en estos ultimos la literatura aun es escasa. Las causas del SCA se pueden clasificar en tres grandes grupos: procesos sistemicos, ingesta de farmacos/drogas y enfermedades neurologicas, siendo las causas mas frecuentes en ninos la intoxicacion, la epilepsia, los traumatismos craneoencefalicos (TCE) y las infecciones del sistema nervioso central. Ante un SCA en la edad pediatrica siempre deben hacerse una correcta anamnesis y un diagnostico diferencial adecuado. Es importante descartar siempre la posibilidad de una patologia organica ante un comportamiento anomalo o agresivo de inicio brusco y no atribuirlo a trastornos del comportamiento o patologia psiquiatrica. Casos clinicos: Presentamos cuatro casos clinicos de SCA de distinta etiologia del Servicio de Urgencias Pediatricas de un hospital secundario. Conclusiones: Aunque el SCA es mas frecuente en adultos, los pediatras debemos estar preparados para identificarlo, tratar sus sintomas y averiguar la causa subyacente con el fin de instaurar tratamiento precoz. EnglishIntroduction: Acute confusional state (ACS), also called delirium, is a transient organic mental syndrome in which cognitive functions are altered in a variable way, especially attention. It is more frequent in the elderly and children, although about children literature is still scarce. The causes of ACS can be classified into three main groups: systemic processes, drug intake and neurological diseases. Intoxication, epilepsy, traumatic brain injury (TBI) and central nervous system infections are the most common causes in children. Before an ACS in the pediatric age, a correct history and an adequate differential diagnosis should always be made. Before an abnormal or aggressive behavior with an abrupt onset, it´s important to always rule out the possibility of an organic pathology and not attribute it to behavioral disorders or psychiatric pathology. Clinical cases: We present four clinical cases of ACS of different etiologies that occurred in the Pediatric Emergency Department of a secondary hospital. Conclusions: Although ACS is more frequent in adults, pediatricians must be prepared to identify it, treat its symptoms and find out the underlying cause in order to establish early treatment.
espanolEl eritema nodoso es un tipo de reaccion de hipersensibilidad tardia, que se manifiesta como nodulos eritematosos y dolorosos de predominio en miembros inferiores. Una de sus causas es la enfermedad por aranazo de gato producida por Bartonella henselae, aunque es poco habitual. Se expone un caso de eritema nodoso asociado a enfermedad por aranazo de gato diagnosticado en nuestro hospital, asi como su manejo diagnostico y terapeutico y su evolucion. EnglishErythema nodosum is a delayed-type hipersensitivity reaction that presents as erythematous and painful nodules on the shins. It can appear as an uncommon complication of cat scratch disease produced by Bartonella henselae. A rare case of erythema nodosum associated to cat scratch disease was diagnosed in our hospital. Its diagnostic, therapeutic management and evolution is reported. We have found in previous literature just a single case of association between erythema nodosum and cat scratch disease in a pediatric patient.
espanolEl sindrome de Zinner es una alteracion en el desarrollo embriologico poco comun, que consiste en la asociacion de una dilatacion quistica de la vesicula seminal con agenesia renal ipsilateral. Presentamos el caso de un varon de 14 anos diagnosticado de sindrome de Zinner a raiz de un cuadro de orquiepididimitis izquierda y hematuria. Entre los antecedentes personales del paciente destaca una agenesia renal izquierda con funcion renal conservada. Debido a la sospecha clinica se realizo una resonancia magnetica (RM), en la que se objetivo ureter izquierdo dilatado y tortuoso, confirmandose su desembocadura en vesicula seminal izquierda. Clinicamente suele manifestarse con episodios recidivantes de epididimitis, trastornos miccionales o alteraciones eyaculatorias, pudiendo aparecer a cualquier edad, aunque lo mas frecuente es durante la segunda y tercera decadas de la vida. La RM es la tecnica diagnostica de eleccion. El tratamiento depende directamente de la clinica. La cirugia suele reservarse para los pacientes sintomaticos o para aquellos quistes que se detectan a una edad temprana, para evitar posibles complicaciones. EnglishZinner syndrome is a rare embryological development disorder. It is the association of a cystic dilation of the seminal vesicle with ipsilateral renal agenesis. The case is presented as a 14-year-old male diagnosed with Zinner syndrome as a consequence of an orchiepididymitis and hematuria episode. Among his medical history, a left renal agenesis is highlighted with preserved renal function. Due to the clinical suspicion, a MRI was performed in which it was observed a dilated and tortuous left ureter, being able to confirm its opening in the left seminal vesicle. Zinner syndrome is clinically presented with recurrent epididymitis episodes, voiding disorders or ejaculatory alterations, being able to appear at any age, although the most common is during the second and third decade of life. MRI is the diagnostic method of choice. Treatment relies on the clinic. Surgery is usually reserved for symptomatic patients or for those cysts that are detected at an early age, in order to avoid possible complications.
