[Giant arachnoid cyst with hydrocephalus and secondary chronic intracranial hypertension]. / Quiste aracnoideo gigante con hidrocefalia e hipertensión intracraneal crónica secundaria.

TITLE: Quiste aracnoideo gigante con hidrocefalia e hipertensión intracraneal crónica secundaria.

Management of ampullary tumours in children: still a challenge.

This study describes the case of the youngest patient ever reported with ampullary adenoma. The incidence of ampullary adenomas in childhood is unknown. Endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound are used in adults to assess and treat these lesions, although there are no instruments designed specifically for use in young children. A six-year-old girl was admitted for abdominal pain, vomiting, pruritus and weight loss. Abdominal ultrasound showed biliary tree (8mm) and pancreatic duct dilatation (4mm). Magnetic resonance cholangiopancreatography and computed tomography confirmed these findings, and also showed displacement of the ampulla to the left upper quadrant. An upper endoscopy confirmed a large ampullary adenoma. A laparotomy was performed and a 5cm villous tumour arising from the ampulla was excised. The postoperative course was uneventful. The histology demonstrated adenoma of the ampulla (intestinal type) without low-grade dysplasia. all clinical and radiological parameters are normal at 20 months follow-up. We describe the case of the youngest patient ever reported with ampullary adenoma. Pancreaticoduodenectomy carries high morbidity and mortality rates, and therefore it should be avoided in absence of histologically proven malignancy. We believe that surgical ampullectomy is a safe and oncologically correct procedure until better endoscopic instruments for peadiatric use will be designed.

Infectious Complications Following Small Bowel Transplantation.

Microbiological spectrum and outcome of infectious complications following small bowel transplantation (SBT) have not been thoroughly characterized. We performed a retrospective analysis of all patients undergoing SBT from 2004 to 2013 in Spain. Sixty-nine patients underwent a total of 87 SBT procedures (65 pediatric, 22 adult). The median follow-up was 867 days. Overall, 81 transplant patients (93.1%) developed 263 episodes of infection (incidence rate: 2.81 episodes per 1000 transplant-days), with no significant differences between adult and pediatric populations. Most infections were bacterial (47.5%). Despite universal prophylaxis, 22 transplant patients (25.3%) developed cytomegalovirus disease, mainly in the form of enteritis. Specifically, 54 episodes of opportunistic infection (OI) occurred in 35 transplant patients. Infection was the major cause of mortality (17 of 24 deaths). Multivariate analysis identified retransplantation (hazard ratio [HR]: 2.21; 95% confidence interval [CI]: 1.02-4.80; p = 0.046) and posttransplant renal replacement therapy (RRT; HR: 4.19; 95% CI: 1.40-12.60; p = 0.011) as risk factors for OI. RRT was also a risk factor for invasive fungal disease (IFD; HR: 24.90; 95% CI: 5.35-115.91; p < 0.001). In conclusion, infection is the most frequent complication and the leading cause of death following SBT. Posttransplant RRT and retransplantation identify those recipients at high risk for developing OI and IFD.

Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias / Intestinal failure and transplantation in microvillous inclusion disease

INTRODUCCIÓN: La enfermedad por inclusiones microvellositarias es una entidad rara, de herencia autosómica recesiva y caracterizada por una diarrea grave de carácter secretor que produce un fracaso intestinal permanente dependiente de nutrición parenteral. Habitualmente se inicia en el período neonatal y el único tratamiento posible en el momento actual es el trasplante intestinal. PACIENTES Y MÉTODOS: Se revisa, de forma retrospectiva, a 6 pacientes (3 varones y 3 mujeres), diagnosticados entre 1998 y 2013 de enfermedad por inclusiones microvellositarias. RESULTADOS: Todos comenzaron en el primer mes de vida, con una mediana de edad de tres días (rango: 3-30 días) y presentaron diarrea secretora dependiente de nutrición parenteral, con un volumen fecal en ayunas de 150-200ml/kg/día. La microscopia óptica de muestras biópsicas duodenales mostró grados variables de atrofia vellositaria sin hiperplasia críptica, con acumulación de material PAS positivo en el citoplasma de los enterocitos del borde en cepillo y la inmunotinción anti-CD10 fue indicativa de inclusiones intracitoplasmáticas. La confirmación diagnóstica se realizó con microscopia electrónica. En 2 de ellos se realizó estudio genético que demostró mutaciones en el gen MYO5B. Evolutivamente, 3 fallecieron y 3 se encuentran vivos; 2 de ellos portadores de trasplante intestinal y el tercero en espera de trasplante multivisceral

INTRODUCTION: Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation. PATIENTS AND METHODS: A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013. RESULTS: All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation

Enfermedad de Ménétrier asociada a infección por citomegalovirus / Ménétrier′ s disease associated with cytomegalovirus infection

La enfermedad de Ménétrier es una entidad poco frecuente en el niño, caracterizada por una gastroenteropatía pierde proteínas con engrosamiento de la mucosa gástrica y edemas generalizados. La etiología vírica es la más frecuente, siendo el citomegalovirus el agente infeccioso más habitualmente implicado. A diferencia del adulto, es un trastorno autolimitado y con buen pronóstico en el niño. Se revisa a 4 pacientes (3 varones y una mujer) diagnosticados de enfermedad de Ménétrier en los últimos 5 años. La edad media de presentación fue de 28,7 meses (rango: 10-48 meses). La sintomatología clínica más común fue fiebre, vómitos y edemas. La endoscopia demostró engrosamiento de pliegues gástricos y erosiones en grado variable. Todos los pacientes asociaban infección gástrica por citomegalovirus y presentaron una evolución favorable, con resolución del trastorno en pocas semanas

Menetrier's disease is a rare entity in children, characterized by a protein-losing gastroenteropathy with thickening of the gastric mucosa and generalized edema. The most common etiology is viral, and cytomegalovirus is the agent most frequently implicated. Unlike in the adult, it is a self-limited disorder with a good prognosis in children. Four patients (three boys and one girl) diagnosed with Ménétrier disease in the past five years were reviewed. The mean age at presentation was 28.7 months (range: 10-48 months). The most common clinical symptoms were fever, vomiting, and edema. Endoscopy showed thickened gastric folds and erosions in several stages. All patients had an associated gastric cytomegalovirus infection, and a favorable outcome, with resolution of the disorder,was observed within a few weeks

[Intestinal failure and transplantation in microvillous inclusion disease]. / Fracaso intestinal y trasplante en la enfermedad por inclusiones microvellositarias.

INTRODUCTION: Microvillous inclusion disease is a rare autosomal recessive condition, characterized by severe secretory diarrhea that produces a permanent intestinal failure and dependency on parenteral nutrition. It usually begins in the neonatal period, and the only treatment at present is intestinal transplantation. PATIENTS AND METHODS: A retrospective review was conducted on 6 patients (three males and three females) diagnosed with microvillous inclusion disease between 1998 and 2013. RESULTS: All debuted in the first month of life, with a median age of three days (range, 3-30 days), and had secretory diarrhea dependent on parenteral nutrition, with fasting fecal volume of 150-200ml/kg/day. Light microscopy of duodenal biopsy samples showed varying degrees of villous atrophy without cryptic hyperplasia, accumulation of PAS positive material in the cytoplasm of enterocytes brush border, and anti-CD10 immunostaining was suggestive of intracytoplasmic inclusions. Diagnostic confirmation was performed with electron microscopy. Two of them had a genetic study, and showed mutations in MYO5B gene. Three died and three are alive; two of them with an intestinal transplantation and the third waiting for a multivisceral transplantation.

[Ménétriers disease associated with cytomegalovirus infection]. / Enfermedad de Ménétrier asociada a infección por citomegalovirus.

Menetrier's disease is a rare entity in children, characterized by a protein-losing gastroenteropathy with thickening of the gastric mucosa and generalized edema. The most common etiology is viral, and cytomegalovirus is the agent most frequently implicated. Unlike in the adult, it is a self-limited disorder with a good prognosis in children. Four patients (three boys and one girl) diagnosed with Ménétrier disease in the past five years were reviewed. The mean age at presentation was 28.7 months (range: 10-48 months). The most common clinical symptoms were fever, vomiting, and edema. Endoscopy showed thickened gastric folds and erosions in several stages. All patients had an associated gastric cytomegalovirus infection, and a favorable outcome, with resolution of the disorder,was observed within a few weeks.

Etiología de la ataxia aguda en urgencias pediátricas: experiencia de 11 años / Etiology of acute ataxia in pediatric emergencies: 11 years experience

Las alteraciones en la marcha son un motivo de consulta habitual en las urgencias pediátricas; sin embargo, los casos de verdadera marcha atáxica son muy infrecuentes en los pacientes pediátricos. La principal preocupación del profesional de urgencias radica en excluir las causas graves de este síndrome clínico; afortunadamente, en la mayoría de casos en la infancia, su origen suele ser un proceso benigno y autolimitado. Dentro de las ataxias adquiridas, la forma más habitual de presentación en los servicios de urgencias suele ser la aguda, cuya evolución es menor de 72 horas en un niño previamente sano. En esta revisión hemos analizado los casos de ataxia adquirida valorados en nuestro servicio de urgencias pediátricas durante un periodo de 11 años, así como su enfoque diagnóstico. En nuestra serie, la causa más frecuente de ataxia aguda fue la postinfecciosa (un 39,13% del total), seguida de las de origen tumoral (17,39%) y las intoxicaciones (13,04%) (AU)

Changes in gait are a common reason for consultation in pediatric emergencies, however cases of true gait ataxia are rare in pediatric patients. The main concern of professional emergency lies in the exclusion of serious causes of this clinical syndrome, fortunately in most cases the origin in childhood is usually benign and self-limiting process. Among the acquired ataxias, the most common form of presentation in the pediatric emergency is usually that of acute ataxia, which are those whose evolution is less than 72 hours in a previously healthy child. In this review we have analyzed the cases of acquired ataxia evaluated in our pediatric emergency department during a period of 11 years and what was the diagnostic approach. In our series of cases the most common cause of acute ataxia was postinfectious (39.13% of total), followed by the tumoral origin (17.39%) and secondary to ingestion of toxic agents (13.04%) (AU)

Susceptibilidad genética en la enfermedad celiaca. Actualización / Genetic susceptibility in celiac disease. Uptodate

La enfermedad celiaca (EC) es una enteropatía causada por una respuesta inmunitaria anómala mediada por los linfocitos T frente al gluten. Para el desarrollo de la enfermedad son necesarias una predisposición genética y la exposición al gluten, pero también actúan otros factores ambientales como desencadenantes (dietéticos, infecciones, aumento de la permeabilidad intestinal...). Los principales factores genéticos asociados a la EC se relacionan con el complejo mayor de histocompatibilidad de clase II, que codifica el antígeno leucocitario humano HLA-DQ2 y HLA-DQ8. Algunos estudios recientes de asociación del genoma han identificado varios locus de riesgo en pacientes celiacos en genes no relacionados con el HLA. Presentamos una actualización de estos genes y de las diferencias existentes entre ellos en individuos sanos, pacientes celiacos y pacientes celiacos potenciales (AU)

Celiac disease (CD) is an enteropathy consequence of an aberrant immune response mediated by T lymphocytes against gluten. For the development of the disease it is necessary a genetic predisposition and gluten exposure; however, other environmental factors (dietary, infections, increased intestinal permeability...) act as triggers. The main genetics factors associated with celiac disease are major histocompatibility complex class II genes, that encode human leukocyte antigen HLA-DQ2 and HLA-DQ8. Recent genome-wide association studies have led to the identification of several non-HLA risk loci for celiac disease. We present an update on these genes and genetics differences between healthy subjects, celiac disease and potential celiac (AU)