Germana Casaccia

The impact of cystic fibrosis on neonatal intestinal obstruction: the need for prenatal/neonatal screening.

Abstract.To determine the incidence of cystic fibrosis (CF) in neonates with intestinal obstruction (NIO) secondary to meconium ileus (MI), jejunoileal atresia (JA), meconium plug syndrome (MPS), volvulus (V), and meconium peritonitis (MP) and analyze the correlation of ultrasonographic (US) signs with CF in NIO with a prenatal diagnosis of intestinal anomaly, a prospective analysis of different types of NIO from 1990 to 1998 was undertaken. Immunoreactive trypsin measurement, genetic studies, and sweat tests were performed to confirm or rule out CF. Cases with prenatal diagnosis were analyzed for gestational age, dilated bowel, ascites, hyperechoic bowel, and calcifications. Of 80 neonates, 19 (24%) had CF: 2/33 (6%) JA, 6/14 (43%) MPS, 1/14 (7.1%) MP, 10/10 (100%) MI, and 0/9 V. Thirty (37.5%) had a prenatal diagnosis of an intestinal anomaly. The overall incidence of CF in NIO with a prenatal diagnosis of intestinal anomaly was 4/30 (13%), or 333 times the estimated risk of CF in the general population. A hyperechoic pattern with dilated bowel was associated with higher specificity for CF: 3/3 cases (100%), followed by hyperechoic bowel with ascites: 3/4 cases (75%). All babies with any type of NIO should thus be screened for CF. Prenatal screening for CF should be indicated in all pregnancies with US patterns of specific intestinal disorders.

Pleural effusion requiring drainage in congenital diaphragmatic hernia: incidence, aetiology and treatment

In congenital diaphragmatic hernia (CDH), chest tube insertion at repair could determine rapid overexpansion of hypoplastic lungs, increasing the risk of pneumothorax. Therefore, in our institution no drainage tube at CDH repair was inserted after 1997. Afterwards several patients needed chest drainage for cardiopulmonary distress due to pleural effusion (PE) during the postoperative course. The aims of this study are to establish the incidence of PE requiring drainage for cardiopulmonary distress during postoperative course in CDH and to assess its eventual increase in patients with patch repair. Furthermore, the aetiology and treatment of PE are highlighted. Records of high-risk CDH operated on from 1998 to 2004 were reviewed. No chest tube was inserted at repair. Drainage was accomplished postoperatively if a cardiopulmonary distress due to PE occurred. Groups with and without patch were compared on gender, gestational age, birth weight, side of hernia, PE, hernial sac, central venous line and venous thrombosis, using the χ2 and Student’s t tests. Overall mortality rate was recorded. Out of 76 patients, 23 (30%) required patch repair. The PE occurred in 22 out of 76 patients, and in 68% of cases a chylothorax resulted. Birth weight was significantly lower, and the PE rate was significantly higher in patients with patch. Pleural drainage yielded improvement of ventilatory and respiratory parameters in all cases. Overall mortality rate was 16 and 23% in patients that required chest drain. The incidence of PE was 30% in CDH and significantly higher in patients with patch. The increased mortality rate in patients with PE causing cardiopulmonary distress warrants chest tube drainage before instability occurs.

Congenital gastrointestinal anomalies in anorectal malformations: what relationship and management?

To date, no systematic review of gastrointestinal anomalies associated with anorectal malformations has been performed. We report the management of three challenging cases of neonates affected by congenital gastrointestinal and anorectal malformations and we review the pertinent published reports to disclose the incidence and outcome of this combination. In 3951 anorectal malformations, the incidence of digestive tract anomalies was approximately 15%. The association of multiple congenital gastrointestinal defects strongly increased the case complexity and worsened the outcome. Based on our study, the application of a rational and staged management plan provides easier diagnosis and treatment of complex cases. Moreover, keeping in mind the likely co‐occurrence of anorectal and gastrointestinal anomalies could help avoid misdiagnosis and prevent life‐threatening complications. Finally, the knowledge of this association and its successful management can help the multi‐specialist team to become more confident in counselling, diagnosis and treatment.

Caecal volvulus in cornelia de Lange syndrome: is its' prevention possible?

conferences over the last 3 years and the materials and strategies have been widely disseminated (http://www.ciprb.org, http://www.tasc-gcipf.org). The evaluation of the programme will be completed late in 2008 and it is hoped that the results will be published in 2009. The PRECISE programme does not have all the answers for drowning prevention. The need for further research and investment in this field is essential and we are very keen for this to occur. But such research must acknowledge and build on what has already been developed in rural and urban areas in Bangladesh and use this knowledge to transfer interventions to other lowand middle-income countries.

Biliary atresia associated with multiple unrelated anomalies : what about it?

The prognosis of extrahepatic biliary atresia (EHBA) and multiple apparently not linked anomalies has never been disclosed. We reported a rare case affected by biliary, anorectal and esophageal atresia, and collected the uncommon associations of EHBA with multiple unrelated congenital defects to make known the prognosis. An elevated rate of hepatic failure despite surgery and an early poor outcome were found in the above-mentioned associations. A liver transplantation at the first months of life could be considered to improve outcome.

Congenital diaphragmatic hernia in CHARGE syndrome

Congenital diaphragmatic hernia (CDH) has been rarely described in CHARGE syndrome. We report a patient affected by CHARGE syndrome presenting with a right-sided Bochdalek-type diaphragmatic hernia, and collect the pertinent literature. Furthermore, we review the embryogenesis of the diaphragm and the pathogenesis of CDH to highlight if this malformation could be explained by a developmental anomaly of CHARGE. On the basis of our study, we suggest that patients affected by CDH, facial asymmetry and cardiovascular or urogenital malformations, should be actively screened for CHARGE syndrome findings.