Colestasi neonatale: la grande simulatrice

Early detection and accurate diagnosis of cholestatic jaundice (CJ) are important for successful treatment and favourable prognosis but the rapid and effective recognition of the causes of cholestasis in infants is still challenging also for paediatric gastroenterologist. Here is reported the case of a female infant with CJ who during the observation showed features suggestive of many diseases such as Alagille syndrome, cystic fibrosis, neonatal hemocromatosis, α1- anti-trypsin deficiency (α1-ATD) and biliary atresia. A definite diagnosis was not obtained with a first liver biopsy performed at the age of 58 days which revealed severe lobular hepatitis and signs of cholangitis. An intraoperative cholangiography, performed to exclude biliary atresia, showed signs of sclerosing cholangitis. A second liver biopsy supported diagnosis of sclerosing cholangitis, but also showed signs of α1-ATD. The analysis of phenotype/genotype of α1-ATD excluded this diagnosis. At the end of a challenging diagnostic process, at the age of 75 days, the final diagnosis was of neonatal sclerosing cholangitis, but many doubts persisted. This case confirms that neonatal cholestasis remains a very challenging matter.