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El síndrome de megavejiga-microcolon-hipoperistaltismo intestinal (MMIHS) es una grave enfermedad congénita autosómica recesiva, caracterizada por distensión vesical e hipoperistaltismo intestinal que provoca obstrucción intestinal funcional en el neonato, además de otras alteraciones. Presenta una incidencia muy baja, en torno al centenar de casos se describen en la bibliografía; la esperanza de vida apenas supera el año falleciendo generalmente por procesos sépticos. El caso que se presenta triplica esta supervivencia, con una calidad de vida y desarrollo ponderal muy aceptables. La nutrición parenteral domiciliaria unida a un seguimiento y coordinación multidisciplinar muy estrictos, constituyen las claves del éxito en esta patología.Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a severe congenital disease with autosomal recessive inheritance, characterized by vesical distension and intestinal hypoperistalsis what causes intestinal obstruction in newborn, with other abnormalities associated. It presents a low incidence, about a hundred cases are reported in the bibliography. Life expectancy doesn't reach a year because of the sepsis failure generally. In our study the survival is higher than the majority of the cases reported, with good cuality of life and acceptable ponderal development. Home parenteral nutrition with the following and multidisciplinary collaboration in a strict way, establish the success' key in this pathology.

This article presents a case report of a three and half year-old boy with functional constipation and sensory hyperreactivity. The Integrated Sensory Toileting® approach was used to guide clinical reasoning and identify the sensory underlying factors that were impacting the child's ability to acquire age-appropriate toileting habits and gastrointestinal health. The six months of treatment in occupational therapy and gastroenterology, as well as six months of follow-up are described. Improvements in sensory reactivity are documented using the Sensory Processing Measure-2 and the Toileting Habit Profile Questionnaire-Revised and corroborate with improvements in the child's ability to participate in toileting routines and improved gastrointestinal health.

Non-steroidal anti-inflammatories, corticoids and antihistamines, as well as a great many other molecules, have classically been used to control the symptoms of cryopyrin-associated periodic syndromes (CAPS), with very few encouraging results. Knowledge of its genetic character, and its aetiopathogenesis associated with inflammasome and the production of interleukin-1 (IL-1) has led to the development of new therapeutic weapons that have not just obtained improvements of the symptoms and quality of life of the patients, but also managed to control the underlying inflammation. Results show that anakinra, an IL-1 receptor antagonist molecule, improved the clinical symptoms and the inflammatory markers of patients with CAPS has motivated research with other molecules directed against IL-1: rilonacept and canakinumab. It is likely that the use of these molecules could prevent the development of the late complications associated with chronic inflammation., (Copyright © 2011 Elsevier España S.L. All rights reserved.)

Schönlein-Henoch purpura is a small vessel disease that affects mainly skin and kidney, although several gastrointestinal symptoms may occur including abdominal pain, intussusception, perforation or bleeding. Massive lower gastrointestinal haemorrhage is rare and even more as the main symptom of the disease. We present a case of a 2-year-old boy with Schönlein-Henoch purpura who developed a massive lower gastrointestinal bleeding requiring blood transfusion. In this patient both Schönlein-Henoch purpura and gastrointestinal haemorrhage were successfully treated with intravenous methylprednisolone, avoiding surgical intervention. Physicians need to have a high index of suspicion when evaluating these patients, even more when dermatologic signs are scarce. Glucocorticosteroid therapy may be effective when treating severe gastrointestinal symptoms.

Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a severe congenital disease with autosomal recessive inheritance, characterized by vesical distension and intestinal hypoperistalsis what causes intestinal obstruction in newborn, with other abnormalities associated. It presents a low incidence, about a hundred cases are reported in the bibliography. Life expectancy doesn't reach a year because of the sepsis failure generally. In our study the survival is higher than the majority of the cases reported, with good cuality of life and acceptable ponderal development. Home parenteral nutrition with the following and multidisciplinary collaboration in a strict way, establish the success' key in this pathology.

Sarcoidosis is a multisystem granulomatous disorder characterized by the infiltration of noncaseating granulomata in the affected tissues. We report here the clinical case of a Caucasian Spanish patient suffering from sporadic early-onset sarcoidosis (EOS) with simultaneous cutaneous and articular symptoms. NOD2 (nucleotide-binding oligomerization domain; previously known as CARD15, caspase recruitment domain) gene mutational analysis revealed the presence of the recurrent R334W missense mutation. As in previously reported EOS cases, our patient was initially misdiagnosed with dermatitis.

The objectives of this study were to evaluate the nutritional status and the efficiency of high density oral supplements in patients with cystic fibrosis. Twenty patients with cystic fibrosis (10 boys and 10 girls) with a mean age of 11.63 years (SD:6.3) were studied. Sixty percent of these patients were receiving high density oral supplements. A clinical and nutritional evaluation, including a three day evaluation of food intake, were performed. Patients were separated into two groups according to oral supplement intake and the presence or not of pulmonary colonization. We found the patients to have a mild to moderate clinical status. Anthropometric values were lower than ideal. Intake of calories, macronutrients and micronutrients were similar (except for folic acid) in both groups of patients and were close or above the established dietetic recommendations for cystic fibrosis. Patients with pulmonary colonization scored lower in the Shwachman and Brasfield tests, had lower weights, subscapular skinfolds and nutritional indices, and higher plasma immunoglobulin A concentrations. We conclude that a free hypercaloric diet allows cystic fibrosis patients to maintain an adequate nutritional status. Oral supplements should be prescribed on an individual basis according to the results of periodic food records and clinical and anthropometric status evaluation.

Presentation of a case of Niemann-Pick disease type A diagnosed by clinic, enzymatic analysis of leucocytic cells and the liver and presence of foamy cells widely distributed throughout the body. This case presents peculiarity of being associated to an endocardial fibroelastosis which is very infrequent.

A number of 241 patients with meningococcal infection, treated between 1972 and 1978, is analysed. Some new therapeutic patterns are established based on the application of the prognosis score of Stiehm. With these patterns consisting in the use of volume expansors with anti-aggregating properties and low dosage prophylactic heparin administration, authors have considerably improved their results reported in 1972, succeeding in diminishing the global mortality to 3.73%, a figure inferior to that of all known series to date.

Authors report a ten years old girl with mixed connective tissue disease. Diagnosis was based on clinical and serological findings. They stress good response to corticoid therapy and presence of recurrent parotitis.

Based upon our previous experience on the treatment of meningococcal infections with satisfactory evolution when the fourth day of therapy was finalized and taking into account published experiences with four or less days of therapy, we realized a study on the efficacy of a four days therapy when venial meningococcal infections but of seven days when the serious ones. The results obtained were like the former ones we published concerning to death rate but having inferior number of complications. The results of our study suggest that meningococcal infections may be successfully treated according to seriousness, with a four or seven-day course of intravenous penicillin G (300,000 UI/kg/day) distributed in six "aliquots" each four hours. The possibility of a four-days therapy, not taking into account seriousness, is considered for every meningococcal infections.

We have studied an infant (female) with a persisting hypernatremia and adipsia, examined for the first time at the age of five months. The funtional test carried out showed an insensibility of the osmoreceptors for very important changes in POsm. carryng with them a lack of response of the ADH. Neuroradiological studies demostrated hydrocephalia secondary to a stenosis of the aqueduct of Silvio. Treatment with chlorpropamide proved effective. The literature is being revised comparing out results with those of other authors.