Biliary atresia (BA) involves the gradual sclerosis of the bile ducts. It commonly manifests as an isolated abnormality but may also occur in syndromic forms. We present the case of an 80-day-old male infant with the syndromic variety of BA associated with polysplenia syndrome, dextrocardia, situs inversus totalis, and malrotation of the intestines. From the first week of life, the patient exhibited jaundice, clay-colored stools, and dark yellow urine. A physical examination revealed an icteric child with a palpable liver. Laboratory testing showed a total bilirubin level of 16 mg/dL, with direct bilirubin at 9 mg/dL, indicative of obstructive jaundice. The patient also presented with elevated liver enzymes and an alkaline phosphatase level of 935 IU/L. Abdominal ultrasonography failed to visualize the gallbladder but demonstrated situs inversus with polysplenia. Echocardiography confirmed dextrocardia, with no other cardiac anomalies detected. The patient underwent a Kasai portoenterostomy, after which bile was present in the stool, and hyperbilirubinemia was reduced. BA polysplenia syndrome is a rare congenital disorder, and surgeons operating on these patients need to be aware of potential challenges caused by abnormal rotation and mirroring of the digestive system anatomy.

Biliary atresia (BA) has a known association with other congenital anomalies and specifically the Biliary Atresia Splenic Malformation syndrome (BASM). Although initial response to the Kasai portoenterostomy (KPE) appear similar, it seems that they have less liver fibrosis in the longer term. We aimed to test this hypothesis. Single-centre prospective database with a 2:1 ratio of contemporaneous controls. We used native liver survivors (at 3+ yrs) as the principal comparison. Three surrogate markers of liver fibrosis were used: AST-to-Platelet-index (APRi), Varices Prediction Rule (VPR) and endoscopic presence of clinically significant varices (grade 2 or 3). [N.B. higher APRI and lower VPR are predictive of liver fibrosis]. Data were quoted as median (IQR where applicable), and non-parametric comparisons were used throughout. P≤0.05 was regarded as significant. During the period 1990 - 2024 there were 154 infants with Syndromic BA (BASM, n= 95 and Non-BASM, n= 59) and Isolated BA (n=252), and of these 55 (35.7%), and 104 (41.3%) were 3+ year native liver survivors. There was no significant difference in age at KPE between the 3 groups and both the APRi was lower in the BASM than both, Non-BASM and IBA (0.63 vs 0.76 vs. 0.72, P<0.01) and VPR was higher in the BASM than IBA (23 vs. 18, P =0.02) respectively. In the 3+ year native liver survivors' group, APRi was lower in both BASM and Non-BASM groups compared to IBA (0.78 vs. 0.45 vs 1.03, P<0.05) and VPR higher 10.6 vs. 10.9 vs 8.1 (P < 0.05). Clinically significant varices were less prevalent in the syndromic groups [2 (3.6%) vs. 22 (21.1%), P=0.002]. There is prima facie clinical and biomarker evidence for reduced portal hypertension and presumably liver fibrosis in both syndromic BA groups, compared to those with Isolated BA. This might suggest that the ongoing pathobiology post-KPE in such syndromic groups is different to that of isolated BA.

Biliary atresia (BA) may be characterized as an obliterative cholangiopathy presenting in the newborn period with conjugated jaundice, pale stools, and dark urine. It is usually thought of as an isolated anomaly in otherwise normal infants. However, in a minority, other anomalies may be present, some as defined syndromes, others as a non-random association. The most fully characterized is that of the biliary atresia splenic malformation syndrome seen in about 10% of European and North American series with a typical array of unusual extrahepatic anomalies (e.g., situs inversus, polysplenia, absence of the inferior vena cava, and a preduodenal portal vein). Its underlying genetic background is obscure in most cases. There are other syndromes with a definite link to BA, such as Cat-Eye syndrome and Kabuki syndrome, and still others that may have a link, such as Zimmerman-Laband syndrome.

Biliary atresia (BA) is an obliterative disease of the bile ducts affecting between 1 in 10,000-20,000 infants with a predominance in Asian countries. It is clinically heterogeneous with a number of distinct variants (e.g., isolated, Biliary Atresia Splenic Malformation syndrome, Cat-eye syndrome, cystic BA, and CMV-associated BA). Facts about its aetiology are hard to encounter but might include genetic, developmental, exposure to an environmental toxin, or perinatal virus infection. However, the cholestatic injury triggers an intrahepatic fibrotic process beginning at birth and culminating in cirrhosis some months later. Affected infants present with a triad of conjugated jaundice, pale stools, and dark urine and may have hepatosplenomegaly upon examination, with later ascites coincident with the onset of progressive liver disease. Rapid, efficient, and expeditious diagnosis is essential with the initial treatment being surgical, typically with an attempt to restore the bile flow (Kasai portoenterostomy (KPE)) or primary liver transplantation (<5%) if considered futile. Failure to restore bile drainage or the onset of complications such as recurrent cholangitis, treatment-resistant varices, ascites, hepatopulmonary syndrome, and occasionally malignant change are usually managed by secondary liver transplantation. This issue summarises recent advances in the disease and points a way to future improvements in its treatment.