Omphalocele and biliary atresia: chance or causality. A case report.

To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, due to anatomical changes resulting from omphalocele. A surgical approach was chosen on the 37th day of life aiming to confirm diagnosis of biliary atresia and to repair omphalocele. During the surgical procedure, structural alterations compatible with biliary atresia were observed, later confirmed by pathological examination; a hepatoportoenterostomy was performed and the omphalocele was corrected. She evolved well in the postoperative period, with a decrease in direct bilirubin and liver enzymes, as well as resolution of fecal acholia, and was discharged in good clinical condition. This is a bizarre and extremely rare association, but the prognosis may be good when an early diagnosis is made and surgery performed, besides support and clinical management to prevent complications in the perioperative period. Although the pathogenesis of the diseases has not been fully defined yet, there is, to date, no direct relation between them. The association between omphalocele and biliary atresia is extremely uncommon, with only two published cases.

Omphalocele and biliary atresia: chance or causality. A case report

ABSTRACT To relate omphalocele and biliary atresia and investigate possible embryological correlations that justify the simultaneous occurrence. A female preterm newborn diagnosed as omphalocele; cesarean delivery, weight 2,500g, 46 XX karyotype. Initially, the newborn remained fasting and on parenteral nutrition, and enteral diet was introduced later, with good acceptance. On the 12th day of life, the newborn presented direct hyperbilirubinemia, increased levels of liver enzymes and fecal acholia, with a presumptive diagnosis of biliary atresia. However, the ultrasound was inconclusive, due to anatomical changes resulting from omphalocele. A surgical approach was chosen on the 37th day of life aiming to confirm diagnosis of biliary atresia and to repair omphalocele. During the surgical procedure, structural alterations compatible with biliary atresia were observed, later confirmed by pathological examination; a hepatoportoenterostomy was performed and the omphalocele was corrected. She evolved well in the postoperative period, with a decrease in direct bilirubin and liver enzymes, as well as resolution of fecal acholia, and was discharged in good clinical condition. This is a bizarre and extremely rare association, but the prognosis may be good when an early diagnosis is made and surgery performed, besides support and clinical management to prevent complications in the perioperative period. Although the pathogenesis of the diseases has not been fully defined yet, there is, to date, no direct relation between them. The association between omphalocele and biliary atresia is extremely uncommon, with only two published cases.

Prematurity and fetal lung response after tracheal occlusion in fetuses with severe congenital diaphragmatic hernia.

OBJECTIVE: To evaluate the independent association of fetal pulmonary response and prematurity to postnatal outcomes after fetal tracheal occlusion for congenital diaphragmatic hernia. METHODS: Fetal pulmonary response, prematurity (<37 weeks at delivery) and extreme prematurity (<32 weeks at delivery) were evaluated and compared between survivors and non-survivors at 6 months of life. Multivariable analysis was conducted with generalized linear mixed models for variables significantly associated with survival in univariate analysis. RESULTS: Eighty-four infants were included, of whom 40 survived (47.6%) and 44 died (52.4%). Univariate analysis demonstrated that survival was associated with greater lung response (p=0.006), and the absence of extreme preterm delivery (p=0.044). In multivariable analysis, greater pulmonary response after FETO was an independent predictor of survival (aOR 1.87, 95% CI 1.08-3.33, p=0.023), whereas the presence of extreme prematurity was not statistically associated with mortality after controlling for fetal pulmonary response (aOR 0.52, 95% CI 0.12-2.30, p=0.367). CONCLUSION: Fetal pulmonary response after FETO is the most important factor associated with survival, independently from the gestational age at delivery.

Transplante de fígado em criança: experiência inicial do Instituto da Criança do Hospital das Clínicas da Universidade de Säo Paulo / Liver transplantation in children: initial experience of the Instituto da Criança of the Hospital das Clínicas of Universidade de Säo Paulo

Este artigo relata a experiência inicial do Instituto da Criança com o transplante de fígado em crianças, desde a fase de planejamento e efetivaçäo aos resultados iniciais. O primeiro passo foi a reuniäo da equipe de profissionais experientes no tratamento da criança, constituída de cirurgiöes pediatras, hepatologistas, intensivistas, anestesistas e assistente social, para o estabelecimento de protocolos terapêuticos, análises de critérios de indicaçäo, imunizaçäo ativa e drogas imunossupressivas. Após um longo tratamento cirúrgico, com a realizaçäo de mais de 100 transplantes de fígado em animais de médio porte, iniciamos a fase clínica, em setembro de 1989. Desta data a julho de 1991, foram realizados 12 transplantes ortotópicos de fígado em nove crianças (três retransplantes) portadoras de insuficiência hepática terminal. A idade variou de 2a e 3m a 17a, sendo cinco crianças do sexo masculino e quatro de feminino. o feminino. Os doadores fora selecionados apenas segundo o grupo sanguinio ABO e compatibilidade de peso corpóreo. Apenas em uma ocasiäo uma criança A+ recebeu fígado de doador O+. A imunossuprassäo básica constitui-se de ciclosporina, corticosteróide e azatioprina. A permanência em UTI variou de 3 a 24 dias e foi basicamente condicionada à necessidade de ventilaçäo mecânica. Näo tivemos mortalidade operatória, trombose arterial, venosa, ou complicaçäo biliar precoce. A sobrevida geral foi de 78% (7/9) das crianças. Os dois casos de óbito ocorreram em decorrência de näo funcionamento primário do enxerto. Embora o número de casos ainda näo seja grande, estes resultados iniciais säo comparáveis aos dos melhores centros de transplante hepático do mundo

Raquitismo vitamina D dependente tipo II: relato de um caso / Type II vitamin D dependent rickets: report of a case

Os autores apresentam um caso de raquitismo vitamina D dependente do tipo II e discutem a etiopatogenia, os aspectos clínicos, laboratoriais, radiológicos e terapêuticos. O diagnóstico diferencial com raquitismo carencial e raquitismo vitamina D dependente tipo I é abordado