Biliary atresia, splenic malformation, and situs inversus managed with Kasai portoenterostomy: case report

Abstract

Introduction:

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.

Case Presentation:

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.

Clinical discussion:

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.

Conclusion:

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.

Introduction

Biliary atresia (BA), a cholangiopathic condition affecting neonates, is marked by a progressive fibroinflammatory process that obliterates both the extra- and intrahepatic bile ducts. This condition typically results in cholestasis, portal fibrosis, and eventual biliary cirrhosis^[1]. Davenport’s classification system categorizes BA into four distinct clinical groups: Syndromic BA, Cystic BA, cytomegalovirus-associated BA, and Isolated BA^[2].

Syndromic BA is correlated with several congenital anomalies, such as polysplenia, cardiac defects, interruption of the inferior vena cava, preduodenal portal vein, intestinal malrotation, and situs inversus, and is termed BA splenic malformation syndrome (BASM)^[3]. The distinct surgical anatomy of this syndrome presents difficulties for surgeons^[4]. This report describes the case of an 80-day-old male infant with the syndromic form of BA, accompanied by polysplenia syndrome, dextrocardia, situs inversus totalis, and intestinal malrotation.

HIGHLIGHTS

• Biliary atresia polysplenia syndrome is an uncommon disorder.

• BASM could include an array of splenic malformations, disorders of visceral symmetry, and malformations of the intra-abdominal veins (e.g., absent inferior vena cava, preduodenal portal vein).

• Surgeons operating on these patients need to be aware of potential challenges caused by abnormal rotation and mirroring of the digestive system anatomy.

• The first 60 days of life are the best period for surgery, leading to a 10-year survival rate in approximately 70% of cases.

This case report has been reported in line with the SCARE Criteria^[5].

Case presentation

An 80-day-old male infant was admitted with jaundice, acholic stools, and dark yellow urine, which had been present since the first week of life. The mother’s prenatal care was unremarkable. The patient had no history of fever or cyanosis. He was born at ull term via normal vaginal delivery with a birth weight of 2.8 kg. Clinical examination revealed icterus and a palpable liver.

Laboratory investigations revealed a normal complete blood count, serum electrolytes, urea, and creatinine. Total bilirubin was measured at 16 mg/dL, with a direct bilirubin of 9 mg/dL, indicative of obstructive jaundice. Liver enzymes were elevated [alanine aminotransferase (ALT) – 200.1 U/L, aspartate transaminase (AST) − 214.8], and alkaline phosphatase was raised to 935 IU/L. Total serum albumin was within the normal range (4.02 g/dL). Abdominal ultrasonography was limited due to the inability to visualize the gallbladder but did reveal situs inversus with polysplenia. Echocardiography confirmed dextrocardia without evidence of other cardiac anomalies.

During the exploration, the gallbladder was rudimentary and atretic. The liver had a dark color, a smooth texture, and was centrally positioned. Polysplenia was observed on the right side, along with the stomach. The duodenum was entirely intra-peritoneal, and the duodenojejunal flexure was in the midline. Furthermore, the transverse colon was retroperitoneal, and the ileocecal junction was in the left upper quadrant (Fig. 1). The gallbladder was dissected from its bed, moving toward the porta hepatis. The portal plate was sharply transected between the portal vein bifurcation. A Roux loop of the jejunum, created 15 cm from the duodenojejunal flexure, was brought towards the porta without traversing the transverse mesocolon window. Finally, an end-to-side porto-enterostomy was performed using interrupted absorbable 5-0 sutures (Fig. 2). The postoperative recovery was uneventful. On the third postoperative day, the patient began passing green-colored stool, and oral feeding was permitted on the fourth day. The patient was then discharged on the eighth postoperative day.

Figure 1.

Intraoperative picture showing hypoplastic and atretic gallbladder (blue arrow) (A), stomach (S) in the right side of the abdomen (B), polysplenia (black arrows).

Figure 2.

Intra-operative picture of portal dissection during Kasai procedure. White arrows – right and left portal veins, blue arrow – fibrous cone transected at porta (A), Completed portoenterostomy (B).

Three months post-surgery, the patient exhibited marked clinical progress, demonstrated by weight gain, resolution of edema, and the disappearance of jaundice. Postoperative laboratory analysis revealed a direct bilirubin level of 3 mg/dL and a total bilirubin level of 7 mg/dL. Liver enzymes were mildly elevated, with an alkaline phosphatase level of 456 U/L, and normal albumin levels compared to preoperative levels.

Discussion

BA is a progressive inflammatory and sclerosing condition of the biliary tree occurring in about 1 in 15 000–20 000 live births^[6]. This malformation is usually isolated, but in 10–25% of cases, it is associated with other anomalies. The most common association is polysplenia syndrome, also known as BASM, which is reported in about 10% of cases^[7]. BASM could include an array of splenic malformations (usually polysplenia, but also asplenia and double spleen), disorders of visceral symmetry (e.g., situs inversus and malrotation), malformations of the intraabdominal veins (e.g., absent inferior vena cava, preduodenal portal vein)^[8].

In BA, the triangular cord sign and gallbladder abnormalities are the two most accurate and widely accepted ultrasonographic findings used to diagnose or exclude the condition. Typically, the gallbladder is small, shrunken, and noncontractile, and the liver exhibits increased echogenicity. Additionally, the presence of other associated anomalies of the polysplenia syndrome is pathognomonic. While magnetic resonance imaging (MRI) techniques like magnetic resonance cholangiopancreatography offer more precise diagnosis of BA, they are costly, may necessitate sedation, and have not been widely adopted in most hospitals^[9–11].Ultrasound in our case failed to visualize the gallbladder and revealed polysplenia with situs inversus. Given the reasons stated previously MRI was not performed.

Situs inversus represents a congenital malformation characterized by the mirror-image transposition of internal organs. This condition stems from a disruption in the embryonic development process, specifically the failure to establish the typical left–right body axis. The resulting anomaly involves the aberrant positioning of thoraco-abdominal organs and vasculature, frequently accompanied by complex congenital cardiac and extracardiac abnormalities^[12]. In our case, the stomach and spleens were lying on right side of the abdomen. The duodenum was intraperitoneal and transverse colon retroperitoneal.

The abnormal, misoriented, and variable anatomy in cases of BASM always poses a challenge for the surgeon^[4]. Orientation of the Roux-en-Y loop can present challenges during BA repair. Typically, the loop is routed through an opening in the transverse mesocolon, but intestinal malrotation or reverse rotation can complicate this process. The presence of mirrored abdominal viscera further compounds these difficulties^[13]. In our case, we had to maneuver the Roux-en-Y loop directly to the portal plate for portoenterostomy, without channelling it through the transverse mesocolon as described in the miriza et al report.

Reports on the clinical outcome of patients with BASM after portoenterostomy have been conflicting. While some researchers have reported a poor outcome, likely due to associated cardiac abnormalities, others have not observed a worsening in the hepatobiliary disease^[14]. Moreover, in these patients, increasing age has a significant detrimental effect on the outcome^[15]. The first 60 days of life are the best period for surgery, leading to a 10-year survival rate in approximately 70% of cases^[3]. The Liu et al study found that more than half of BA patients can survive for 10 years with their native liver, even when the Kasai portoenterostomy procedure was performed after 70 days of life^[16]. In our case, we chose to proceed with the Kasai procedure despite the patient’s delayed presentation.

In addition to the age at operation, other key determinants of a satisfactory outcome after portoenterostomy include successfully achieving postoperative bile flow, the presence of microscopic ductal structures at the porta hepatis, the extent of liver parenchymal disease at the time of diagnosis, and technical factors involving the portoenterostomy anastomosis. Liver transplantation is indicated for BA patients when the initial portoenterostomy surgery fails to restore bile drainage, leading to worsening liver disease. Transplantation is also indicated if bile drainage remains inadequate despite the initial surgery, resulting in declining liver function, poor growth, and ongoing complications of chronic liver disease^[10,11,17]. The index case is currently under close follow-up, passing bile-colored stool and exhibiting improved liver function tests.

Conclusion

BA polysplenia syndrome presents a rare clinical entity. Surgical interventions for affected individuals necessitate a thorough understanding of the potential complexities arising from atypical rotation and mirroring of the digestive system’s anatomical arrangement.

Ethical approval

This type of study does not require any ethical approval by our institution.

Consent

Written informed consent was obtained from the patient’s parents for the publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal upon request.

Sources of funding

No funding was received.

Author contributions

Y.T.G.: Writing – review & editing. Writing-original draft, visualization, conceptualization. F.M.T.: Writing – review & editing, Conceptualization. S.H.K.: Writing – review & editing H.T.G.: Investigation, conceptualization. B.T.G.: Investigation, conceptualization. R.M.T.: Writing – review & editing.

Conflicts of interest disclosure

There are no any conflicts of interest with this article.

Guarantor

Yirgalem Teklebirhan Gebreziher.

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Provenance and peer review

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Data availability statement.

Not applicable.