Associação Rara Entre Intussuscepção E Doença Celíaca Em Criança

Intussusception is a common cause of acute intestinal obstruction in the pediatric population and it is normally idiopathic. Rare cases of chronic intussusception require investigation with greater attention. CASE REPORT: We present a clinical case of a three-year-old boy with aqueous diarrhea, abdominal distension, vomiting and weight loss over a two-month period. During the investigation, abdominal ultrasound showed imaging of intussusception. The intraoperative findings showed the intussusception had resolved spontaneously. In further investigation, it was found that the diarrhea was malabsorptive and, after the patient underwent upper gastrointestinal endoscopy, a diagnosis of celiac disease was made. After a gluten-free diet was introduced, the patient showed complete remission of symptoms and regained weight, and normal growth was reestablished. CONCLUSION: If the clinical presentation of intussusception is unusual, etiological investigation should be undertaken. In this case report, celiac disease was the underlying cause. © 2016, Sao Paulo Medical Journal. All rights reserved.134545746

Colonic transit in children and adolescents with chronic constipation

AbstractObjectiveThe aim of this study was to assess clinical features and colonic transit patterns in Brazilian children with refractory constipation.MethodsFrom 2010 to 2013, 79 constipated patients received follow-up care in a tertiary hospital. Of these patients, 28 (aged 8–14 years) were refractory to conventional therapy and underwent a simplified visual method of nuclear colonic transit study, by ingestion of a liquid meal containing 9.25MBq/kg of 99mTc-phytate. Abdominal static images were taken immediately and at two, six, 24, 30, and 48h after ingestion for qualitative analysis of the radio marker progression through the colon.ResultsTwo patterns of colonic transit were found: slow colonic transit (SCT, n=14), when images at 48h showed a larger part of the tracer remained in proximal and transverse colon, and distal retention (DR, n=14), when after 30h, the radio isotope passed the transverse colon and was retained in the rectosigmoid up to 48h. The SCT and DR group included, respectively, nine and ten males; median ages in the nuclear study of 11 and 10 years, p=0.207; median duration of constipation of seven and six years, p=0.599. Constipation appearing during first year age (p=0.04) and report of soft stools (p=0.02) were more common in SCT patients. Palpable abdominal fecal impaction was found only in DR group. Appendicostomy for antegrade continence enema was successful in 4/12 (30%) of SCT patients (median follow-up: 2.4 years).ConclusionNuclear transit study distinguished two colonic dysmotility patterns and was useful for guiding refractory patients to specific therapies

Erratum To: Quality Of Sweat Test (st) Based On The Proportion Of Sweat Sodium (na) And Sweat Chloride (cl) As Diagnostic Parameter Of Cystic Fibrosis: Are We On The Right Way?

During production of the original article [1] the Methods section included an incorrect sentence. The following sentence "For the analysis of variables with numerical distribution, Fisher's exact test and one-way analysis of variance were used" should be corrected as "For the analysis of variables with numerical distribution, Student's t-test and one-way analysis of variance were used". © The Author(s).12

1952 - Nr 20

To describe the case of an infant with Hirschsprung's disease presenting as total colonic aganglionosis, which, after surgical resection of the aganglionic segment persisted with irreversible functional intestinal obstruction; discuss the difficulties in managing this form of congenital aganglionosis and discuss a plausible pathogenetic mechanism for this case. Case description The diagnosis of Hirschsprung's disease presenting as total colonic aganglionosis was established in a two‐month‐old infant, after an episode of enterocolitis, hypovolemic shock and severe malnutrition. After colonic resection, the patient did not recover intestinal motor function that would allow enteral feeding. Postoperative examination of remnant ileum showed the presence of ganglionic plexus and a reduced number of interstitial cells of Cajal in the proximal bowel segments. At 12 months, the patient remains dependent on total parenteral nutrition. Comments Hirschsprung's disease presenting as total colonic aganglionosis has clinical and surgical characteristics that differentiate it from the classic forms, complicating the diagnosis and the clinical and surgical management. The postoperative course may be associated with permanent morbidity due to intestinal dysmotility. The numerical reduction or alteration of neural connections in the interstitial cells of Cajal may represent a possible physiopathological basis for the condition. © 2016 Sociedade de Pediatria de São Paulo34338839

Síndrome da obstrução intestinal distal: um desafio diagnóstico e terapêutico na fibrose cística

To evaluate the demographics, genotype, and clinical presentation of pediatric patients presenting with distal intestinal obstruction syndrome (DIOS), and factors associated with DIOS recurrence. Methods: Case series of ten patients (median age 13.2 years), followed-up in a reference center, retrospectively assessed. Data analyzed included age, gender, cystic fibrosis genotype, meconium ileus at birth, hydration status, pulmonary exacerbation, Pseudomonas aeruginosa colonization, pancreatic insufficiency (PI), body mass index (BMI) at the episodes, clinical manifestations of DIOS, imaging studies performed, acute management of DIOS, maintenance therapy, and recurrence on follow-up. Results: All patients had two positive sweat chloride tests, and nine of ten also had genotype study. The most common genotype identified was homozygosis for the delta F508 mutation. In seven cases, a previous history of meconium ileus was reported. All patients had pancreatic insufficiency. Diagnosis of DIOS was based on clinical and imaging findings. Of the total number of episodes, 85% were successfully managed with oral osmotic laxatives and/or rectal therapy (glycerin enema or saline irrigation). Recurrence was observed in five of ten patients. Conclusion: In this first report of pediatric DIOS in South America, the presence of two risk factors for DIOS occurrence was universal: pancreatic insufficiency and severe genotype. Medical history of meconium ileus at birth was present in most patients, as well as in the subgroup with DIOS recurrence. The diagnosis relied mainly on the clinical presentation and on abdominal imaging. The practices in the management of episodes varied, likely reflecting changes in the management of this syndrome throughout timesem informaçãoAvaliar os dados demográficos, o genótipo e o quadro clínico de pacientes pediátricos que apresentam Síndrome da Obstrução Intestinal Distal (DIOS) e os fatores associados à recidiva da DIOS. Casuística de 10 pacientes (idade média 13,2 anos) monitorados em um centro de referência e avaliados de forma retroativa. Os dados analisados incluíram idade, sexo, genótipo da Fibrose Cística, íleo meconial no nascimento, estado de hidratação, exacerbação pulmonar, colonização por Pseudomonas aeruginosa, insuficiência pancreática (IP), IMC nos episódios, manifestações clínicas da DIOS, estudos de diagnóstico por imagem realizados, manejo agudo da DIOS, terapia de manutenção e recidiva no acompanhamento. Todos os pacientes apresentaram dois exames de cloreto no suor positivos e 09/10 também apresentaram estudo do genótipo. O genótipo mais comum identificado foi a homozigose da mutação delta F508. Em sete casos foi mencionado um histórico de íleo meconial. Todos os pacientes apresentaram insuficiência pancreática. O diagnóstico da DIOS teve como base achados clínicos e de imagem. 85% do número total de episódios foram tratados com sucesso com laxantes osmóticos orais e/ou terapia retal (enema de glicerina ou irrigação salina). A recidiva foi observada em 5 de 10 pacientes. Neste primeiro relatório da DIOS pediátrica na América do Sul, a presença de dois fatores de risco na ocorrência da DIOS foi universal: insuficiência pancreática e genótipo associado a doença grave. O histórico de íleo meconial no nascimento esteve presente na maioria dos pacientes, bem como no subgrupo com recidiva da DIOS. O diagnóstico dependeu principalmente do quadro clínico e do diagnóstico por imagem abdominal. As práticas de manejo de episódios variaram, provavelmente refletindo as mudanças no tratamento dessa síndrome ao longo do temposem informaçã

Gastric Emptying Of Water In Children With Severe Functional Fecal Retention

The objective of this study was to evaluate gastric emptying (GE) in pediatric patients with functional constipation. GE delay has been reported in adults with functional constipation. Gastric emptying studies were performed in 22 children with chronic constipation, fecal retention and fecal incontinence, while presenting fecal retention and after resuming regular bowel movements. Patients (18 boys, median age: 10 years; range: 7.2 to 12.7 years) were evaluated in a tertiary pediatric gastroenterology clinic. Gastric half-emptying time of water (reference range: 12 ± 3 min) was measured using a radionuclide technique immediately after first patient evaluation, when they presented fecal impaction (GE1), and when they achieved regular bowel movements (GE2), 12 ± 5 weeks after GE1. At study admission, 21 patients had reported dyspeptic symptoms, which were completely relieved after resuming regular bowel movements. Medians (and interquartile ranges) for GE1 and GE2 were not significantly different [27.0 (16) and 27.5 (21) min, respectively (P = 0.10)]. Delayed GE seems to be a common feature among children with chronic constipation and fecal retention. Resuming satisfactory bowel function and improvement in dyspeptic symptoms did not result in normalization of GE data.46329329

Doença De Hirschsprung – Dismotilidade Intestinal Pós-cirúrgica

To describe the case of an infant with Hirschsprung's disease presenting as total colonic aganglionosis, which, after surgical resection of the aganglionic segment persisted with irreversible functional intestinal obstruction; discuss the difficulties in managing this form of congenital aganglionosis and discuss a plausible pathogenetic mechanism for this case. Case description The diagnosis of Hirschsprung's disease presenting as total colonic aganglionosis was established in a two-month-old infant, after an episode of enterocolitis, hypovolemic shock and severe malnutrition. After colonic resection, the patient did not recover intestinal motor function that would allow enteral feeding. Postoperative examination of remnant ileum showed the presence of ganglionic plexus and a reduced number of interstitial cells of Cajal in the proximal bowel segments. At 12 months, the patient remains dependent on total parenteral nutrition. Comments Hirschsprung's disease presenting as total colonic aganglionosis has clinical and surgical characteristics that differentiate it from the classic forms, complicating the diagnosis and the clinical and surgical management. The postoperative course may be associated with permanent morbidity due to intestinal dysmotility. The numerical reduction or alteration of neural connections in the interstitial cells of Cajal may represent a possible physiopathological basis for the condition. © 2016 Sociedade de Pediatria de São Paulo34338839

Gastric emptying of water in children with severe functional fecal retention

The objective of this study was to evaluate gastric emptying (GE) in pediatric patients with functional constipation. GE delay has been reported in adults with functional constipation. Gastric emptying studies were performed in 22 children with chronic constipation, fecal retention and fecal incontinence, while presenting fecal retention and after resuming regular bowel movements. Patients (18 boys, median age: 10 years; range: 7.2 to 12.7 years) were evaluated in a tertiary pediatric gastroenterology clinic. Gastric half-emptying time of water (reference range: 12 ± 3 min) was measured using a radionuclide technique immediately after first patient evaluation, when they presented fecal impaction (GE1), and when they achieved regular bowel movements (GE2), 12 ± 5 weeks after GE1. At study admission, 21 patients had reported dyspeptic symptoms, which were completely relieved after resuming regular bowel movements. Medians (and interquartile ranges) for GE1 and GE2 were not significantly different [27.0 (16) and 27.5 (21) min, respectively (P = 0.10)]. Delayed GE seems to be a common feature among children with chronic constipation and fecal retention. Resuming satisfactory bowel function and improvement in dyspeptic symptoms did not result in normalization of GE data

Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smooth muscle dysfunction syndrome (MSMDS, MIM613834). The genetic bases of these conditions recently begun to be clarified with the identification of pathogenic variants in ACTG2, ACTA2, and MYH11 in individuals with visceral motility dysfunction. The MMIHS was associated with the heterozygous variant in ACTG2 and homozygous variant in MYH11, while the heterozygous variant in ACTA2 was observed in patients with MSMDS. In this study, we describe the clinical data as well as the molecular investigation of seven individuals with visceral myopathy phenotypes. Five patients presented with MMIHS, including two siblings from consanguineous parents, one had CIPO, and the other had MSMDS. In three individuals with MMIHS and in one with CIPO we identified heterozygous variant in ACTG2, one being a novel variant (c.584C>T-p.Thr195Ile). In the individual with MSMDS we identified a heterozygous variant in ACTA2. We performed the whole-exome sequencing in one sibling with MMIHS and her parents; however, the pathogenic variant responsible for her phenotype could not be identified. These results reinforce the clinical and genetic heterogeneity of the visceral myopathies. Although many cases of MMIHS are associated with ACTG2 variants, we suggest that other genes, besides MYH11, could cause the MMIHS with autosomal recessive pattern. (C) 2016 Wiley Periodicals, Inc.Visceral motility dysfunction is a key feature of genetic disorders such as megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS, MIM moved from 249210 to 155310), chronic intestinal pseudo-obstruction (CIPO, MIM609629), and multisystemic smoo1701129652974sem informaçãoConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)sem informaçãoThe authors thank the families for their participation in this study.The whole exome sequencing performed in this project wassupported by NHGRI 1U54HG006542 to the Baylor-HopkinsCenter for Mendelian Genomic