A Rare Presentation of Hepatolithiasis and Acute Cholangitis: A Case Report Highlighting Heterotaxy Syndrome With Left Isomerism

Abstract

Heterotaxy syndrome (HS) is a rare congenital disorder characterized by the atypical arrangement of thoracic and abdominal organs. This complex condition is challenging to diagnose due to its ambiguous classification system and the wide spectrum of clinical presentations. HS can be subcategorized into left or right isomerism, with left isomerism typically associated with less severe cardiac malformations but still carrying significant morbidity due to other organ system anomalies. We present the case of a 50-year-old male with a history of diabetes mellitus, hypertension, chronic kidney disease, and cholecystectomy, who presented with worsening abdominal and back pain, fever, and signs of sepsis. Imaging revealed common bile duct thickening and pneumobilia, raising suspicion of acute cholangitis. Further evaluation uncovered multiple congenital anomalies consistent with HS with left isomerism, including congenital malrotation, bilateral hyparterial bronchi, a reversed superior mesenteric artery/vein (SMA/V) relationship, and interruption of the inferior vena cava (IVC) with azygos continuation. The patient was found to have hepatolithiasis complicated by acute cholangitis, leading to septic shock. After aggressive medical and endoscopic intervention, including endoscopic retrograde cholangiopancreatography (ERCP) with lithotripsy, the patient stabilized and was discharged with follow-up care. This case highlights the diagnostic and management challenges associated with HS, particularly when patients present with acute symptoms related to non-cardiac complications. The combination of HS and hepatolithiasis, a rare association, underscores the importance of considering HS in patients with unusual or unexplained anatomical findings. Given the complex nature of this condition, a multidisciplinary approach is crucial for optimizing patient outcomes. HS with left isomerism can present with a wide array of congenital anomalies that may complicate acute medical conditions such as cholangitis. This case illustrates the need for thorough imaging and a high index of suspicion to diagnose HS in adults presenting with atypical abdominal findings. Early recognition and multidisciplinary management are essential in mitigating complications and improving patient outcomes.

Keywords: acute cholangitis; hepatolithiasis; heterotaxy syndrome; isomerism; polysplenia; situs ambiguous.

Figure 1. Axial contrast-enhanced CT at presentation demonstrates an intrahepatic biliary ductal dilatation (solid arrow) with pneumobilia (asterisks). There is absence of an intrahepatic IVC (dashed arrow) and multiple splenules indicating polysplenia (hollow arrowheads).

CT: Computed tomography; IVC: Inferior vena cava

Figure 2. Sagittal contrast-enhanced CT reformat reveals a well-demonstrated presence of gastrointestinal malrotation with swirling of mesenteric vasculature (solid arrowhead).

CT: Computed tomography

Figure 3. Axial contrast-enhanced CT images at the level of the pancreas demonstrates a truncated dorsal pancreas (solid arrow).

CT: Computed tomography

Figure 4. Slightly more inferior to Figure 3, an axial contrast-enhanced CT images at the level of the duodenum. The duodenum (dashed arrow) remains to the right of midline, compatible with congenital gastrointestinal malrotation as suggested on prior sagittal image (Figure 2).

CT: Computed tomography

Figure 5. Axial T2-weighted image of the abdomen through the liver demonstrates intrahepatic biliary stone (solid arrow). Redemonstrated is a truncated IVC/absent intrahepatic IVC (dashed arrow) and polysplenia (arrowheads).

IVC: Inferior vena cava

Figure 6. Coronal T2-weighted image of the abdomen through the liver demonstrates intrahepatic biliary stone (solid arrow) and redemonstrated truncated IVC/absent intrahepatic IVC (dashed arrow).

IVC: Inferior vena cava