Increasing Incidence of Pediatric Eosinophilic Esophagitis in the Southwest of Madrid, Spain.

OBJECTIVES: The incidence of eosinophilic esophagitis is unknown in our area. The aim of our study was to determine the incidence of eosinophilic esophagitis and its possible association with the most frequent absolute annual pollen counts. METHODS: A descriptive retrospective multicenter observational study was designed to calculate the incidence of eosinophilic esophagitis in children aged under 15 years in the southwest region of Madrid, Spain in 2002-2013 (data were provided by the Statistics Institute of Madrid). We collected data on age, sex, clinical presentation, and date of endoscopic diagnosis. Relative risk (RR) was estimated (Stata v.11) using negative binomial regression models to assess the association between incidence and pollen counts (provided by Subiza Clinic). RESULTS: The study population comprised 254 patients (192 male [75.6%], aged 0.5-14.99 years). The clinical presentation was esophageal impaction in 23.6%, dysphagia in 22%, gastroesophageal reflux-like symptoms in 44.9%, and other findings in 9.4%. The annual incidence from 2002 to 2013 per 100 000 children aged <15 years per year was, respectively, 0.81, 1.5, 0.37, 3.17, 3.07, 4.36, 6.87, 7.19, 8.38, 9.05, 9.14, and 9.68. The incidence of eosinophilic esophagitis increased by an average of 19% annually (RR, 1.19; 95%CI, 1.14-1.25; P<.001). In the overall analysis, the relationship between incidence and absolute annual and monthly counts during the pollen seasons of the respective pollen types was analyzed only for Platanus species, which had an RR >1 (1.17 and 1.06, respectively) (P<.05). CONCLUSION: The incidence of diagnosis of pediatric eosinophilic esophagitis increased by an average of 19% annually. No significant association was found between incidence and pollen counts, except for a weak association with Platanus species.

Increasing incidence of pediatric eosinophilic esophagitis in the Southwest of Madrid, Spain

Objectives: The incidence of eosinophilic esophagitis is unknown in our area. The aim of our study was to determine the incidence of eosinophilic esophagitis and its possible association with the most frequent absolute annual pollen counts. Methods: A descriptive retrospective multicenter observational study was designed to calculate the incidence of eosinophilic esophagitis in children aged under 15 years in the southwest region of Madrid, Spain in 2002-2013 (data were provided by the Statistics Institute of Madrid). We collected data on age, sex, clinical presentation, and date of endoscopic diagnosis. Relative risk (RR) was estimated (Stata v.11) using negative binomial regression models to assess the association between incidence and pollen counts (provided by Subiza Clinic). Results: The study population comprised 254 patients (192 male [75.6%], aged 0.5-14.99 years). The clinical presentation was esophageal impaction in 23.6%, dysphagia in 22%, gastroesophageal reflux-like symptoms in 44.9%, and other findings in 9.4%. The annual incidence from 2002 to 2013 per 100 000 children aged <15 years per year was, respectively, 0.81, 1.5, 0.37, 3.17, 3.07, 4.36, 6.87, 7.19, 8.38, 9.05, 9.14, and 9.68. The incidence of eosinophilic esophagitis increased by an average of 19% annually (RR, 1.19; 95%CI, 1.14-1.25; P<.001). In the overall analysis, the relationship between incidence and absolute annual and monthly counts during the pollen seasons of the respective pollen types was analyzed only for Platanus species, which had an RR >1 (1.17 and 1.06, respectively) (P<.05). Conclusion: The incidence of diagnosis of pediatric eosinophilic esophagitis increased by an average of 19% annually. No significant association was found between incidence and pollen counts, except for a weak association with Platanus species

Objetivo: La incidencia de esofagitis eosinofílica es desconocida en nuestra área. El objetivo de nuestro estudio es determinar la incidencia de diagnóstico de esofagitis eosinofílica y su posible asociación con los recuentos absolutos anuales de los pólenes más frecuentes. Métodos: Se diseñó un estudio descriptivo multicéntrico retrospectivo para el cálculo de la incidencia de esofagitis eosinofílica en niños menores de 15 años en el suroeste de la Comunidad de Madrid entre 2002-2013 (datos poblacionales obtenidos del Instituto de Estadística de la Comunidad de Madrid). Se recoge de cada paciente: edad, sexo, presentación clínica y fecha de diagnóstico endoscópico. Se estimó la asociación entre la incidencia y los recuentos polínicos (aportados por la Clínica Subiza) mediante cálculo del riesgo relativo usando modelos de regresión binomial negativa (Stata v.11).Resultados: Se incluyeron 254 pacientes, 75,6% varones (n=192), de edades comprendidas entre 0,5-14,99 años. La presentación clínica fue: impactación esofágica 23,6%, disfagia 22%, síntomas sugerentes de reflujo gastroesofágico 44,9% y otros 9,4%. Las incidencias anuales desde 2002 a 2013 (nº casos/100.000 niños menores de 15 años/año) fueron respectivamente: 0,81; 1,5; 0,37; 3,17; 3,07; 4,36; 6,87; 7,19; 8,38; 9,05; 9,14 y 9,68. La incidencia de esofagitis eosinofílica se incrementó en una media anual de 19% (RR 1,19, 95% IC: 1,14-1,25, p <0,001). En nuestro estudio únicamente existió asociación (RR>1) entre la incidencia y los recuentos polínicos absolutos de Platanus spp anuales y durante los meses de máxima polinización (1,17 and 1,06, respectivamente) (p <0,05).Conclusión: La incidencia de diagnóstico de esofagitis eosinofílica en la edad pediátrica se ha incrementado en una media anual de un 19%. No se encontró una asociación estadísticamente significativa entre la incidencia y los recuentos polínicos, excepto con el Platanus spp aunque ésta fue débil

Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.

BACKGROUND/OBJECTIVES: The home enteral nutrition (HEN) provides nutritional support to children with chronic diseases who are nutritionally compromised and allows them to be discharged more quickly from hospitals. In 2003, a web-based registry (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition -NEPAD-) was created with the objective of gathering information about pediatric HEN practices in Spain. AIM: The aim of this study was to report the implementation of the NEPAD (Nutrición Enteral Pediátrica Ambulatoria y Domiciliaria, Pediatric Ambulatory and Home Enteral Nutrition) registry of pediatric HEN in Spain and to analyze data evolution trends from 2003 to 2010. SUBJECTS/METHODS: The data from the Spanish NEPAD registry were analyzed according to the following variables: demographic data, diagnosis, indication for HEN, nutritional support regime and administration route. RESULTS: Over the study period, 952 patients (1048 episodes) from 20 Spanish hospitals were included in the NEPAD registry. The most frequent indication for HEN was decreased oral intake (64%), and neurological disease was the most prevalent illness. HEN was delivered via a nasogastric tube in 573 episodes (54.7%), by gastrostomy in 375 episodes (35.8%), oral feeding in 77 episodes (7.3%) and by jejunal access in 23 episodes (2.2%). Significant differences in the mode of administration were observed based on the pathology of the child (χ(2), P<0.0001). The cyclic feeding was the most widely used technique for the administration of HEN. Most of the patients used a pump and a polymeric formula. Transition to oral feeding was the primary reason for discontinuation of this type of support. CONCLUSIONS: Since the NEPAD registry was established in Spain, the number of documented patients has increased more than 25-fold. Many children with chronic illness benefit from HEN, mainly those suffering from neurological diseases.

[Neurocristopathies: a high incidence of cerebral dysgenesis in patients with Hirschsprung's disease]. / Neurocrestopatías: alta frecuencia de disgenesias cerebrales en pacientes con enfermedad de Hirschsprung.

INTRODUCTION: Hirschsprung's disease (HD), or aganglionic megacolon, is a congenital disorder that is characterised by the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. AIM: To study the frequency of cerebral malformations in patients with HD in our environment. PATIENTS AND METHODS: We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. RESULTS: The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied, 10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders. CONCLUSIONS: The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carried out in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis.

Neurocrestopatías: alta frecuencia de disgenesias cerebrales en pacientes con enfermedad de Hirschsprung / Neurocristopathies: a high incidence of cerebral dysgenesis in patients with hirschsprung’s disease

La enfermedad de Hirschsprung (EH) o megacolon agangliónico es un trastorno congénito que secaracteriza por la ausencia de células ganglionares en los plexos submucosos y mioentéricos intestinales, debido a un fracaso en la migración de estas células desde la cresta neural (neurocrestopatía). Se han descrito disgenesias cerebrales y síndromespolimalformativos asociados a EH, lo que sugiere una morfogénesis anormal. Objetivo. Estudiar la frecuencia de malformaciones cerebrales en pacientes afectos de EH en nuestro medio. Pacientes y métodos. Estudio retrospectivo de 41.666 recién nacidos vivos, entre 1993 y 2003, de los cuales se identificaron 17 casos de EH. Resultados. La incidencia de EH en el área de salud de la provincia de Albacete es de 1,68 por cada 5.000 recién nacidos vivos. De los 17 pacientes estudiados porEH, 10 fueron aislados (58,8%) y siete (41,1%) asociados a otras anomalías estructurales y retraso psicomotor. De estos últimos, tres se deben a cromosomopatía (trisomía 21, síndrome de Down), dos a síndromes polimalformativos específicos (un síndrome de Mowat-Wilson, y un posible síndrome FG), uno a patrón de anomalías no encuadrable en entidad sindrómica conocida,y uno con fenotipo normal y disgenesia cerebral aislada. En todos ellos los estudios de neuroimagen identificaron disgenesias cerebrales compatibles con trastornos de la migración neuronal. Conclusiones. La frecuencia de asociación de EH, bien aislada o en el contexto de un síndrome polimalformativo específico, con trastornos de la migración neuronal, es elevada(23,5%). Sugerimos la conveniencia de una valoración genética y neurológica completa en pacientes con EH, y estudios de imagen cerebral para descartar disgenesias cerebrales

Hirschsprung’s disease (HD), or aganglionic megacolon, is a congenital disorder that is characterisedby the absence of ganglion cells in the submucosal and myenteric plexuses of the intestine, which is caused by the failure of these cells to migrate from the neural crest (neurocristopathy). Cerebral dysgenesis and polymalformation syndromes have been reported in association with HD, thus suggesting an abnormal morphogenesis. Aim. To study the frequency of cerebralmalformations in patients with HD in our environment. Patients and methods. We conducted a retrospective study of 41,666 live newborn infants, over the period 1993-2003, and 17 cases of HD where identified. Results. The incidence of HD in the health district of the province of Albacete is 1.68 per 5,000 live newborn infants. Of the 17 patients with HD who were studied,10 were isolated (58.8%) and seven (41.1%) were associated to other structural abnormalities and psychomotor retardation. Three of the cases in this latter group were due to chromosome pathology (trisomy 21, Down syndrome), two were caused by specific polymalformation syndromes (one Mowat-Wilson syndrome and one possible FG syndrome), one was due to a pattern of abnormalities that did not fit any known syndrome, and one had a normal phenotype and isolated cerebral dysgenesis. In all of cases the neuroimaging studies identified cerebral dysgenesis that was compatible with neuronal migration disorders.Conclusions. The frequency of association of HD, either isolated or within the context of a specific malformation syndrome, with neuronal migration disorders is high (23.5%). We suggest a full genetic and neurological evaluation should be carriedout in patients with HD, together with brain imaging studies in order to rule out the possibility of cerebral dysgenesis

Ictericia colestásica como complicación de una pielonefritis aguda en una niña de 6 años / Cholestatic jaundice complicating acute pyelonephritis in a 6-year-old girl

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Hepatitis colestásica como manifestación inicial de escarlatina / Cholestatic hepatitis as initial manifestation of scarlet fever

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Síndrome de cutis laxa congénita / Congenital cutis laxa syndrome

El síndrome de cutis laxa comprende un grupo de enfermedades del tejido conectivo que se caracterizan por la relajación de la piel que cuelga en forma de pliegues flácidos sin elasticidad y que produce un aspecto de envejecimiento precoz.Exponemos el caso de un recién nacido, a término, de 2.650 g de peso, de sexo femenino, que presentaba piel redundante al nacimiento y facies con frente ancha, micronagtia, labios finos con pliegues nasogenianos marcados y fontanela anterior amplia de 4 x 5 cm. A los 3 meses de edad se observó una acentuación del aspecto de envejecimiento y la presencia de grandes pliegues en cara abdomen y región sacra. El cariotipo era normal, 46 XX. El estudio ecográfico renal y cerebral también era normal. En el ecocardiograma se apreciaba una comunicación interventricular subaórtica. Se diagnosticó síndrome de cutis laxa congénita tipo III autosómico recesivo por su aparición en el periodo neonatal y la ausencia de alteraciones gastrointestinales o pulmonares asociadas (AU)

Hemangioma solitario intestinal y anemia crónica / Solitary intestinal hemangioma and chronic anemia

Los hemangiomas del tracto gastrointestinal son una causa rara pero importante de hemorragia digestiva, que se manifiesta bien por sangrado activo o bien por anemia ferropénica resistente al tratamiento. Su diagnóstico resulta con frecuencia difícil y la presencia de hemangiomas en otras localizaciones, habitualmente en la piel, hace sospechar su existencia. Presentamos el caso de una niña con anemia persistente secundaria a un hemangioma solitario en intestino delgado (AU)

[Megacalycosis diagnosed during the study of antenatal hydronephrosis]. / Megacaliosis diagnosticada en el estudio de una hidronefrosis prenatal.

We describe a case of megacalycosis in a newborn female with a probable antenatal ultrasonographic diagnosis of left multicystic dysplastic kidney. Uroradiology, ultrasonography and nuclear medicine studies were performed and diagnosis was established by excretory urogram. We have found only one previously published case of megacalycosis in which diagnosis was made during the postnatal study of antenatal hydronephrosis. Megacalycosis should be included in the differential diagnosis of prenatal hydronephrosis.

Megacaliosis diagnosticada en el estudio de una hidronefrosis prenatal / Congenital megacalycosis diagnosed during the study of antenatal hydronephrosis. Case report

Se describe un caso de megacaliosis en una recién nacida con diagnóstico prenatal de probable riñón multiquístico displásico izquierdo. Se practicaron estudios urorradiológicos, ecografía renal y renograma diurético, siendo la urografía excretora la exploración diagnóstica. En la revisión bibliográfica realizada tan sólo se ha encontrado un caso documentado de megacaliosis diagnosticada en el estudio posnatal de una hidronefrosis demostrada ecográficamente en período prenatal. La megacaliosis debe figurar en el diagnóstico diferencial de la hidronefrosis prenatal (AU)

[Phenotype heterogeneity in Gitelman's syndrome]. / Variabilidad fenotípica del síndrome de Gitelman.

A family with three offspring affected of Giltelman's syndrome is reported. The phenotypic variability of this entity is emphasized. Moreover, the diagnosis criteria of the syndrome, phathophysiology, and genetics and clinical differences with Bartter's syndrome are stated.

Fibrosis hepática congénita y enfermedad poliquística renal autosómica recesiva / Congenital hepatic fibrosis and autosomal recessive policystic kidney disease

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Variabilidad fenotípica del síndrome de Gitelman / Phenotype heterogeneity of Gitelman's syndrome

Presentamos una fratria afecta de síndrome de Gitelman en la que se pone de manifiesto su variabilidad fenotípica. Así mismo se exponen los criterios diagnósticos de la entidad, su fisiopatología y las diferencias genéticas y clínicas con el síndrome de Bartter (AU)