Biliary atresia: 20-40-year follow-up with native liver in an Italian centre.

INTRODUCTION: Biliary atresia (BA) represents the leading indication for liver transplantation in childhood. Only few studies reported the outcome of patients who survived more than 20 years on their native liver, and up to date there are no Italian data available. We reported our 40-year single centre experience with long-term follow-up of BA patients. MATERIALS AND METHODS: All consecutive patients who underwent Kasai portoenterostomy (KPE) for BA managed at our Institution between 1975 and 1996 were retrospectively reviewed. Native liver (NLS) and overall survival (OS) were analyzed with Kaplan-Meyer curves and LogRank test. A p value of <.05 was regarded as significant. Quality of life of patients currently surviving with their native liver was assessed through a quality of life questionnaire. RESULTS: During the 22-year period of the study 174 patients underwent surgery (median age 60 days). Clearance of jaundice at 6 months from surgery was achieved in 90 patients (51.7%). NLS was 41% at 5 years, 32% at 10 years, 17.8% at 20 years and 14.9% at 40 years. Cholangitis was recorded in 32%, hepatocellular carcinoma in 0.5%. Twenty-six patients (14.9%) survived with their liver more than 20 years; 84.6% had normal serum bilirubin level and 23% had esophageal varices. Quality of life was comparable with the healthy Italian population in all but one patient. CONCLUSIONS: Our Italian experience confirms KPE represents the cornerstone of treatment for children with BA. Multidisciplinary and meticulous lifelong post-operative follow-up should be guaranteed for these patients because of the possibility of late-onset cholangitis, portal hypertension, hepatic deterioration and liver malignant tumors. TYPE OF THE STUDY: retrospective case series. LEVEL OF EVIDENCE: IV.

Urgent laparoscopic mesh splenopexy for torsion of wandering spleen and distal pancreas: A case report.

Wandering spleen is a condition in which an incomplete fusion of the splenic ligaments allows the spleen to move within the abdomen, predisposing it to splenic torsion along its vascular pedicle. Torsion of a wandering spleen is an uncommon occurrence, especially in children, and associated torsion of the distal pancreas is even more unusual, with only four cases having been reported in adults. Non-specific clinical presentation makes radiologic evaluation essential in order to obtain a diagnosis and to send the patient for early surgery before life-threatening complications arise. Here we present a rare case of torsion of wandering spleen together with volvulus of the distal pancreas in a 13-year-old girl. In this case, prompt radiological assessment allowed for an early diagnosis, and the patient was successfully treated with urgent laparoscopic derotation of both the spleen and the distal pancreas as well as mesh splenopexy. To the best of our knowledge, this procedure has never been described in a pediatric setting.

18q deletion in a cystic fibrosis infant, increased morbidity and challenge for correct treatment choices: a case report.

Cystic Fibrosis (CF) is the most frequent recessive disease of Caucasian patients. Association with other diseases or syndromes has previously been reported. Co-morbidity may be a challenge for clinicians, who have to face more severe problems. We have described a CF infant, F508del homozygote, diagnosed by neonatal screening, who also had a chromosome 18q terminal deletion [del (18)(q22-qter)]. Some clinical features of the 18q deletion: e.g., cardiopathy, gastro-oesophageal reflux and severe muscular hypotonia, worsened the CF clinical picture and his quality of life, with repeated pulmonary exacerbations and failure to thrive in the first six months of life. The treatment strategy was chosen following an accurate multi-disciplinary team study of overlapping chromosome syndrome and CF symptoms. The use of a gastrostomy device for enteral nutrition together with a new device (Ez-PAP) for chest physiotherapy led to normal growth, a notably reduced hospitalization rate and improved quality of life. This case shows how co-morbidities worsening the clinical course of a "complicated patient" can be faced thanks to unconventional therapies that represent a challenge for clinicians.

Colonic stricture mimicking Hirschsprung's disease: a localized cytomegalovirus infection.

The diagnosis of congenital cytomegalovirus (CMV) infection is best established by isolating the virus from urine or saliva within the first 2 weeks of life. Detection beyond this point may reflect perinatal acquisition of CMV. Cytomegalovirus is usually transmitted by direct human-to-human contact through vertical or horizontal routes. Infected persons can excrete CMV in urine, saliva, semen, cervical secretions, or breast milk. Because the virus establishes latent infections, blood products and solid organs can also transmit CMV. In the surgical literature, intestinal CMV-infected cells in infants have prevalently been associated with neonatal necrotizing enterocolitis, and only very few cases of primary CMV infection of the gastrointestinal tract of surgical interest in immunocompetent neonates have been reported. We describe a neonate with congenital or perinatal CMV infection with gastrointestinal involvement who developed a colonic stricture and manifested a clinical picture simulating Hirschsprung's disease. The intestinal lesion was a localized segmental CMV infection of the colon in which inflammation dominated the histopathologic finding. Chorioretinitis was also present.