Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis.

Congenital cystic lesions of the bile ducts represent a spectrum of liver and biliary system lesions, resulting from abnormal embryologic development of the ductal plate. These disorders include Caroli disease, choledochal cysts, autosomal dominant polycystic liver disease, congenital hepatic fibrosis, and biliary hamartomas. Each disorder carries a peculiar clinical presentation, prognosis, and risk of complications. Knowledge of radiological findings of fibropolycystic liver diseases is crucial for their appropriate detection and for differential diagnosis with other similar hepatic cystic lesions, in order to avoid relevant misdiagnosis. The aim of this review is to provide an illustrative summary of the most relevant imaging findings of these conditions as encountered on ultrasound, computed tomography, and magnetic resonance imaging, and provide pearls for imaging-based differential diagnosis.

Congenital diarrheal disorders: an updated diagnostic approach.

Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

[Digestive malformations and their associations to syndrome condition and genetic defects]. / Malformaciones digestivas y su asociación a patología sindrómica y defectos genéticos.

INTRODUCTION: The incidence of disease syndromes and genetic defects in patients with malformations is much higher than in the general population. We reviewed our experience in infants with gastrointestinal malformations to know the incidence of genetic defects and syndromic presentation, for purposes of carrying out the most complete assessment and treatment. MATERIAL AND METHODS: We recruited 161 patients with one or more malformations or congenital gastrointestinal pathology. We evaluated: type of malformation (isolated or syndromic), association with polimalformative complex, genetic testing and its results. RESULTS: The main diagnosis, from highest to lowest incidence, is intestinal malrotation (17.18%), Hirschsprung's disease (13.64%), Meckel's diverticulum (13.14%), oesophageal atresia (12.13%), anorectal malformation (11.12%), diaphragmatic hernia (6.57%), duodenal atresia (5.56%), small bowel atresia (4.55%), omphalocele (4.04), and other (12.07%). In 45.3% the malformation is not isolated. 27.4% appear as syndrome, 4.1% as development defect and 2.7% as association. Genetic study was performed in 30.43%, detecting defects in 36.7% of the studies. Down syndrome (n = 8) is the most frequent. DISCUSSION AND CONCLUSIONS: Our experience with these patients is similar to that provided in the literature. We consider that it is important to identify any associated anomalies, especially heart disease, craniofacial anomalies and other gastrointestinal malformations, because they condition the patient's management. Pathologies that are often associated with other defects require more effort for their detection. The knowledge of these patients is essential for correct treatment.

Potential of MR-imaging in the paediatric abdomen.

OBJECTIVE: To describe the potential and relevant applications of MR-imaging (MRI) in typical paediatric abdominal conditions and diseases. METHOD: The commonly used indications, applications, and sequences as well as typical imaging findings of paediatric abdominal MRI are presented and discussed, with emphasis on specific paediatric needs and queries. Only applications as used in routine clinical work are listed, other more sophisticated and advanced techniques will only briefly be mentioned. Furthermore, some aspects of paediatric MR Urography are presented and discussed. CONCLUSION: Though conventional imaging methods (ultrasound and plain film) are valuable and - particularly in the paediatric abdomen - form the mainstay of routine imaging in paediatric abdominal radiology, some conditions require sectional imaging. MRI is increasingly applied to these queries in neonates, infants and children as an alternative method to CT without any radiation burden, and - when performed adequately and skilfully - can answer most treatment relevant questions. MR will increasingly be applied with new applications and broader availability also with functional information deriving from new equipment and research offering an ideal one stop imaging approach to many conditions also in children.

Advanced bile duct carcinoma in a 15-year-old patient with pancreaticobiliary maljunction and congenital biliary cystic disease.

We report a case of advanced bile duct carcinoma arising in a 15-year-old female with pancreaticobiliary maljunction and congenital biliary cystic disease. Pancreaticoduodenectomy and partial resection of the liver was performed. Surgical and histopathological findings indicated advanced tubular adenocarcinoma, classified as final stage IVb according to the General rules for surgical and pathological studies on cancer of the biliary tract proposed by the Japanese Society of Biliary Surgery, 5th edition, and stage IV according to the American Joint Committee on Cancer (AJCC)/International Union Against Cancer (UICC), 6th edition. She underwent chemotherapy with gemcitabine HCl after discharge. She died of cachexia 14 months after the surgery. Although it is well known that biliary malignancies arise frequently in patients with pancreaticobiliary maljunction, it is uncommon for advanced bile duct carcinoma to occur in a 15-year-old female. We should pay attention to the possibility of biliary malignancy in patients with pancreaticobiliary maljunction and congenital biliary cystic disease, even when the patients are juveniles.

Disease characteristics as determinants of the labour market position of adolescents and young adults with chronic digestive disorders.

BACKGROUND: Job prospects can be problematic for young patients with chronic digestive disorders. OBJECTIVES: To compare the employment status and disease burden in young adult patients with several chronic digestive disorders with healthy controls, and to determine whether labour participation depends on disease characteristics, such as type of diagnosis and burden of disease. PARTICIPANTS: In total 622 patients categorized into five diagnostic groups--inflammatory bowel disease (IBD) (n=274), chronic liver diseases (n=78), congenital digestive disorders (n=104), food allergy (n=77), celiac disease (n=89)--and a population-based control group (n=248), age 15-24 years. METHODS: Labour participation and burden of disease (i.e. consequences of the disease in daily life) were assessed by a postal questionnaire. Multivariate statistics were computed to investigate the relationship between disease characteristics and labour participation. RESULTS: Patients with IBD or chronic liver diseases were found to have limited job prospects. Patients with chronic liver diseases, IBD and food allergy reported more disease burden regarding several indicators compared with controls. Logistic regression analyses including background characteristics revealed socio-economic status (educational level of parents) and nocturnal toilet use as important determinants of employment. In addition, gender and medication intake were found to be most determinative for a full-time position. CONCLUSIONS: The possible impact of IBD and chronic liver diseases on the labour participation of young adults should be recognized and deserves extra attention from gastroenterologists so that young patients can be supported to increase their job opportunities.

Molecular insights into congenital disorders of the digestive system.

Recent work is providing new insights into molecular mechanisms of digestive system development and their alteration in clinically significant disorders. An understanding of these mechanisms has largely been gained through the use of animal models, because many of the basic processes required in embryogenesis are functionally conserved among species. Such conserved factors include cell-cell signaling pathways and the regulation of gene expression. Disruption of these pathways have been implicated in several congenital disorders of the digestive system, including Hirschsprung disease, malrotation, altered sphincter development, Meckel diverticulum, biliary atresia, Alagille syndrome, pancreatic heterotopias, and pancreatic agenesis. In this review, we highlight recent studies in digestive system development, which elucidate mechanisms underlying congenital disorders of the human digestive system.

Cirurgia de urgência no recém-nascido / Emergency surgery in the newborn

O tratamento cirúrgico das urgências neonatais exige recursos técnicos e humanos altamente especializados, e constitui importante segmento da Cirurgia Pediátrica. Dentre inúmeras afecçöes seräo abordadas, por sua incidência e gravidade, a atresia de esôfago, a hérnia diafragmática, as obstruçöes duodenais congênitas (atresia duodenal, pâncreas anual, a má-rotaçäo intestinal e membrana duodenal), as atresias jejuno-ileais, a doença de Hirschsprung, as anomalias ano-retais em suas várias formas, o íleo e a peritonite meconiais, a onfalocele, a gastrosquise e a enterite necrotizante neonatal. Aspectos clínicos e da fisiologia, bem como a conduta diagnóstica e os cuidados pré-, intra e pós operatórios säo analisados aqui, de maneira sucinta e objetiva