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.

Síndrome de megavejiga-microcolon-hipoperistaltismo intestinal. A propósito de un caso de supervivencia prolongada / Megacystis-microcolon-intestinal hypoperistalsis syndrome: a propos of a case of prolonged survival

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[Cystic fibrosis: nutritional considerations]. / Fibrosis quística: aspectos nutricionales.

During the last few decades, improved treatment measures and nutritional support in cystic fibrosis have increased survival and quality of life in these patients. There is a clear relationship between the development of malnutrition and worsening in respiratory function and both factors have been related to poor disease outcome. Malnutrition is a very frequent complication of this disease and is found in 20% of patients, due to negative energy-proteic balance. This disequilibrium can be explained by increased energy expenditure, high nutritional requirements and decreased oral intake. Periodic monitoring of clinical, anthropometrical and functional nutritional status is mandatory. Intake must be greater than requirements and specific nutritional support should be established when required. Patients with cystic fibrosis must receive a hypercaloric and hyperproteotic diet, with a high fat content, a normal quantity of carbohydrates and with pancreatic and liposoluble vitamin supplements in case of pancreatic insufficiency.

Fibrosis quística: aspectos nutricionales / Cystic fibrosis: nutritional considerations

La mejora durante las últimas décadas de las técnicas de tratamiento y de soporte nutricional de los pacientes con fibrosis quística ha permitido prolongar la supervivencia y aumentar la calidad de vida de estos pacientes. Existe una clara relación entre el desarrollo de la malnutrición y la disminución de los parámetros de función respiratoria y ambos se asocian con un peor pronóstico de la enfermedad. La malnutrición es una complicación muy frecuente, presente al menos en el 20% de los pacientes. Esto se debe a que, con frecuencia, se establece un balance energético y proteico negativo originado por el aumento del gasto energético y el aumento de las necesidades nutricionales junto con una disminución de los aportes ingeridos. Debe monitorizarse de forma periódica el estado nutricional desde el punto de vista clínico, antropométrico y analítico, asegurando que la ingesta alcance los requerimientos y realizando un soporte nutricional más específico en aquellas situaciones en las que se produzca un fracaso nutricional. La dieta del paciente con fibrosis quística debe ser hipercalórica e hiperproteica, rica en grasa, con aporte normal de hidratos de carbono y con aporte de suplementos pancreáticos y de vitaminas liposolubles cuando exista insuficiencia pancreática (AU)

[Differentiated thyroid carcinoma in childhood]. / Carcinoma diferenciado de tiroides en la edad pediátrica.

We report the cases of 6 patients, all younger than 14 years of age, with differentiated thyroid carcinoma. None of the patients had a previous history of radiation exposure. All patients presented with an enlarged thyroid gland as a solitary nodule, with or without cervical nodes. The fine-needle aspiration cytological examination was found to be the most sensitive and specific, evidencing 5 pure papillary adenocarcinoma and 1 follicular. Our standard preoperative evaluation included thyroid scintiscan and ultrasound examination, laboratory studies of thyroid function and serum calcitonin, chest x-ray, fine needle aspiration and vocal cord examination. The treatment was total thyroidectomy and bilateral modified neck dissection. A whole body scan (WBS) with 131I was performed 6 weeks after surgery, followed by radioiodine therapy for ablation of thyroid remnants and treatment of metastases when present. Patients then began thyroid replacement treatment. The follow-up of the patients consisted of thyroglobulin and WBS. The microscopic carcinoma was found in the contralateral lobe in 100%. Lung metastases were detected in 2 patients. All of the patients have survived during a follow-up period ranging from 6 to 108 months.