Primary sclerosing cholangitis (PSC) is a cholestatic disease caused by chronic inflammation of the biliary tract. The disease results in hepatic biliary strictures that lead to end-stage liver disease.¹ The estimated prevalence of PSC is up to 16.2 cases per 100,000 population, with a yearly incidence of 1 case per 100,000. No data on PSC in children is available.² This paper reports a pediatric case of PSC presenting with cirrhosis, portal hypertension, esophageal varices, and cutaneous xanthomas― an unusual yet severe clinical manifestation. This case contributes to the growing awareness of pediatric PSC and underscores the urgent need for earlier recognition, improved diagnostic strategies, and tailored pediatric management.

Informed consent was obtained from the patient’s guardian for the publication of this case report.

A 10-year-old boy presented to a tertiary hospital with complaints of jaundice and melena. He had also experienced a fever three days prior to admission. Approximately five months earlier, he had recurrent episodes of fatigue, abdominal pain, nausea, yellowing of the skin, and marked weight loss. No history of chronic diarrhea, rectal bleeding, or recent medication use was reported. Despite seeking medical care, his jaundice persisted, and he developed yellow papules and nodules on the eyelids, bilateral elbows, and axillae (Fig. 1). No family history of a similar illness was noted.

The physical examination showed that the patient appeared jaundiced and pale, with evident hepatosplenomegaly. No signs of lymphadenopathy or neurological abnormalities were noted. An abdominal examination revealed a firm, enlarged liver measuring 10.5×10.0×7.0 cm below the costal margin, splenomegaly graded as Schuffner 1 (S1), and ascites. The laboratory findings upon admission indicated cholestasis and elevated liver enzymes: total bilirubin 14.6 mg/dL, direct bilirubin 10.8 mg/dL, aspartate transaminase 309 U/L, alanine transaminase 116 U/L, gamma-glutamyl transferase (GGT) 523 U/L, and hypoalbuminemia (albumin 2.7 g/dL). A complete blood count revealed anemia (hemoglobin 6.6 g/dL) with normal leukocyte and platelet counts, and a normal coagulation profile. The lipid profile revealed hyperlipidemia with total cholesterol, high-density lipoprotein, low-density lipoprotein, and triglyceride levels of 283 mg/dL, 8 mg/dL, 200 mg/dL, and 344 mg/dL, respectively. The serological tests for hepatitis A, B, and C viruses were negative. Autoimmune markers were within or slightly above the normal limits: C3 at 200 mg/dL (normal 82–185), C4 at 55 mg/dL (normal 15–53), anti-neutrophil antibody 32.80 AU/mL (negative <40), and anti-double- stranded DNA 4.94 IU/mL (negative <30). The anti-smooth muscle antibody and anti-mitochondrial antibody testing were unavailable.

Chest radiography and echocardiography were unremarkable. Abdominal ultrasonography revealed no hepatic, biliary, or pancreatic masses but showed increased echogenicity of the liver parenchyma, ascites, splenomegaly (spleen size: 12.6 cm), dilation of the extrahepatic bile ducts, and a contracted gallbladder (Fig. 2). Doppler imaging revealed a portal vein diameter of approximately 0.99 cm and a portal flow velocity of 18 cm/s. These findings were consistent with chronic liver disease and early portal hypertension. Magnetic resonance cholangiopancreatography (MRCP) showed multiple short-segment strictures extending from the intrahepatic bile ducts to the proximal common bile duct, indicative of PSC with early cirrhosis and hepatosplenomegaly (Fig. 3). Esophagogastroduodenoscopy revealed grade 3 esophageal varices and congestive gastropathy (Fig. 4).

A histopathological examination of the liver biopsy revealed hepatocellular cloudy swelling, canalicular dilation, and infiltration of polymorphonuclear and mononuclear inflammatory cells within the hepatic lobules and portal areas. Evidence of a bile ductular reaction and periportal fibrosis was also noted, which is consistent with cholestatic obstructive disease (Fig. 5).

The patient was diagnosed with PSC with cirrhosis, esophageal varices, portal hypertension, and cutaneous xanthomas based on these clinical, laboratory, imaging, and histological findings. Management included intravenous antibiotics, packed red cell transfusion, omeprazole, and octreotide infusion. Oral medications included sucralfate, ursodeoxycholic acid, propranolol, furosemide, spironolactone, and fusidic acid for the skin lesions. The patient’s condition improved after seven days of hospitalization, and he was discharged with ongoing outpatient therapy. Although liver transplantation was recommended, financial constraints prevented referral; therefore, supportive medical therapy was continued. Table 1 lists the follow-up laboratory results. One month after discharge, the patient remained symptomatic with persistent liver function abnormalities.

PSC has an insidious course in children. It often presents with mild symptoms and initially occurs without complications in most cases. Nevertheless, it is a progressive disease and may ultimately require liver transplantation.¹ The incidence of PSC in children is less than 20% of that reported in adults, yet PSC accounts for 2% to 3% of liver transplantations in the pediatric population. The annual incidence is estimated at 1 case per 100,000, and the cause remains unclear.² Fatigue, right upper quadrant pain, pruritus, and weight loss are the most frequently reported clinical manifestations, followed by jaundice. Early-stage PSC in children is difficult to detect, and many patients seek treatment only after progression to end-stage liver disease.³

PSC is diagnosed based on a high index of suspicion. Measurement of the GGT levels is particularly useful for evaluating bile duct disorders in children because they are often accompanied by elevated liver enzymes. In addition to blood tests, a diagnosis requires further investigations such as cholangiography, liver biopsy, or both. The first-line biliary imaging approach in children is MRCP, which can evaluate the main intraand extrahepatic ducts in most cases of PSC. MRCP is particularly valuable in pediatric patients because it is non-invasive, with a reported sensitivity, specificity, and diagnostic accuracy of 86%, 77%, and 83%, respectively. Endoscopic retrograde cholangiopancreatography was once considered the gold standard for diagnosis, but it is invasive, carries risks of complications, and is less cost-effective than MRCP.⁴ On the other hand, invasive cholangiography may be more sensitive than MRCP in detecting early disease (97% vs. 90% overall diagnostic accuracy). Therefore, it may be considered in cases where MRCP (and potentially liver biopsy) is negative, but a high degree of clinical suspicion remains. Typical MRCP findings in PSC include stricturing or diffuse irregularity (‘beading’) of the extrahepatic biliary system, caused by multiple strictures interspersed with segments of normal or dilated bile ducts. Additional features may include subtle dilation of the bile ducts and gallbladder enlargement.¹

A liver biopsy in PSC may reveal histological features of autoimmune or immune-mediated disease. The pathognomonic finding is concentric periductular fibrosis (‘onion skinning’). In addition, a liver biopsy may reveal bile duct injury, ductopenia, cholestasis, ductular proliferation, or periductular inflammation, but features such as interface hepatitis and portal lymphoplasmacytic infiltration are typically absent. Therefore, a combination of blood tests, cholangiography, and liver biopsy is required to support the diagnosis of PSC.⁵ Even when cases are identified during the early or stable stages of the disease, the histological findings at diagnosis generally do not correlate with, or predict, the course of progression. The clinical trajectory of PSC in pediatric patients remains highly unpredictable.¹

The presence of a dominant stricture in the bile duct is rare in children but may cause serious complications. Early trials of ursodeoxycholic acid (UDCA) in patients with PSC, both controlled and uncontrolled, involved small groups and used doses of 10–15 mg/kg daily. These studies reported improvements in liver enzymes, occasional improvement in symptoms, and mixed histological outcomes (where available).⁶ More recent trials have evaluated higher UDCA doses, up to 30 mg/kg daily. Although these showed no reduction in symptoms, there was significant improvement in the serum alkaline phosphatase and GGT levels.⁷ Secondary hyperlipidemia frequently occurs in cholestatic liver disease and results in hypercholesterolemia, but cutaneous lipid deposition is rare. The pathophysiological mechanisms of hyperlipidemia in cholestasis include impaired biliary excretion of cholesterol and bile acids, increased hepatic cholesterol synthesis, and reduced peripheral cholesterol clearance. These disturbances lead to systemic cholesterol accumulation, with the subcutaneous deposition manifesting as xanthomatous lesions, typically observed on the eyelids, axillae, and extensor surfaces such as the elbows.⁸ In PSC, the presence of cutaneous xanthomas reflects underlying systemic metabolic derangements caused by chronic cholestasis and may serve as an indirect marker of advanced disease severity.⁹ The management of cutaneous xanthomas in PSC centers on the treatment of the underlying cholestasis. Lipid-lowering agents may be used, but often with limited effectiveness.¹⁰

Portal hypertension may arise as a complication of existing liver damage and is one of the clinical manifestations of hepatic fibrosis. The etiology of portal hypertension in children is classified as pre-hepatic, hepatic, or post-hepatic.¹¹ In PSC, however, portal hypertension typically develops as a consequence of intrahepatic dysfunction caused by liver damage.

Esophageal varices are classified into five grades according to the Dagradi classification. Grade 3 is defined as a prominent bluish varicose vein, 3–4 mm in diameter, either straight or tortuous.¹² In the present case, endoscopy revealed a tortuous, bluish varicose vein measuring 3 mm, consistent with grade 3. According to Soehendra’s classification, esophageal varices are categorized as grade 3 when located in the gastric fundus.¹² In this patient, varices were found confined to the gastric fundus and above.

This patient’s Sclerosing Cholangitis Outcomes in Pediatrics (SCOPE) index score of nine places him in the high-risk category, underscoring the need for cautious interpretation of its prognostic implications. Such a classification requires a thorough evaluation of the contributing factors, including pre-existing comorbidities, current physiological disturbances, and potential iatrogenic influences that may further compromise the patient’s condition.¹³ Although chronic health indices, such as the SCOPE index, provide valuable information for long-term mortality prediction, their utility in capturing the dynamic physiological changes occurring in the perioperative period may be limited, reducing their accuracy in estimating the short-term risk.¹⁴

PSC in children can present with distinct clinical and pathological features. A diagnosis is established through biochemical testing, cholangiography, and liver biopsy. Several drugs may improve liver biochemistry, but there is no evidence of long-term benefit, and some cases ultimately require liver transplantation.^1,15 A diagnosis of PSC relies on a high index of suspicion, supported by the cholestasis findings, elevated serum GGT levels, MRCP, and liver biopsy demonstrating bile duct dilatation. Early diagnosis is challenging because liver damage is often already present. Therefore, supportive therapy continues to play an important role, particularly in regions with limited access to liver transplantation.

PSC is a rare and progressive cholestatic disease in children that often presents with subtle symptoms, making an early diagnosis challenging. A combination of diagnostic tools, including liver biopsy, MRCP, and serum biomarkers, is essential for accurate identification. Early recognition and timely intervention are crucial to improving the outcomes and quality of life of affected children.