Abstract
Cholestatic jaundice in early infancy is a complex diagnostic problem. Misdiagnosis of cholestasis as physiologic jaundice delays the identification of severe liver diseases. In the majority of infants, prolonged physiologic jaundice represent benign cases of breast milk jaundice, but few among them are masked and caused by neonatal cholestasis (NC) that requires a prompt diagnosis and treatment. Therefore, a prolonged neonatal jaundice, longer than 2 weeks after birth, must always be investigated because an early diagnosis is essential for appropriate management. To rapidly identify the cases with cholestatic jaundice, the conjugated bilirubin needs to be determined in any infant presenting with prolonged jaundice at 14 days of age with or without depigmented stool. Once NC is confirmed, a systematic approach is the key to reliably achieve the diagnosis in order to promptly initiate the specific, and in many cases, life-saving therapy. This strategy is most important to promptly identify and treat infants with biliary atresia, the most common cause of NC, as this requires a hepatoportoenterostomy as soon as possible. Here, we provide a detailed work-up approach including initial treatment recommendations and a clinically oriented overview of possible differential diagnoses in order to facilitate the early recognition and a timely diagnosis of cholestasis. This approach warrants a broad spectrum of diagnostic procedures and investigations including new methods that are described in this review.
Highlights
Neonatal physiological jaundice is a common and mostly benign symptom
Wolman disease and cholesterol ester storage disease (CESD) are rare autosomal recessive disorders with an estimated incidence of 1 in 40,000 live births [75]. Their identification is especially important as an enzyme-replacement therapy with human recombinant lysosomal acid lipase (LAL) is available and improves the natural course, offering a possibility for longterm survival [78, 79]
A variety of disorders can present with cholestasis during the neonatal period
Summary
Neonatal physiological jaundice is a common and mostly benign symptom. It typically resolves 2 weeks after birth. Size, dilated bile ducts, gall bladder (size, wall thickness, triangular cord sign), identification of extrahepatic obstructive lesions (e.g., choledochal cyst, gallstones, sludge), ascites, spleen size, situs abnormalities, and vascular malformations should be determined by an experienced operator. The non-cholestatic entities Dubin-Johnson syndrome (defect in the MRP2 gene) [48] and Rotor syndrome (defect in the OATP1B1/OATP1B3 gene) [49] need to be distinguished from NC These conditions manifest with direct hyperbilirubinemia but the excretion of serum bile acid is unimpaired. An early partial external biliary diversion normalizes serum bile acids and relieves pruritus for children with PFIC1 and 2 [56] This procedure decelerates disease progression until liver transplantation is needed. Liver transplantation is curative and the treatment of choice for α1ATD
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