Paediatric sickle cell disease presenting with hepatobiliary symptoms—a case presentation and brief literature review

Abstract

Abstract Background Sickle hepatopathy is the hepatobiliary dysfunction associated with sickle cell disease. It has a varied spectrum ranging from asymptomatic transaminasemia to gallstones or fulminant liver failure. Hepatobiliary manifestations may be the initial presentation in children with undiagnosed sickle cell disease as seen in our three index cases. This may mimic a primary liver disease, delaying definite diagnosis and management. Case presentation We describe three cases. The first case was a 9-year-old girl child with cholecystitis with choledocholithiasis, the second case was a 15-year-old boy with acute hepatitis of unidentified aetiology, and the third case was a 3-month-old infant with neonatal cholestasis in absence of common structural or metabolic cause. All three cases had underlying haemolytic anaemia with splenomegaly and belonged to the sickle belt of the region. The final diagnosis in all three index cases was sickle cell disease with hepatopathy. Conclusion The clinical syndrome of hepatitis or cholestasis with or without cholangitis in the background of splenomegaly and haemolytic anaemia should prompt screening for sickle cell disease.

Keywords

• Sickle cell hepatopathy
• Choledocholithiasis
• Acute sickle intrahepatic cholestasis
• Acute hepatic sickle crisis
• Sickle cell cholangiopathy
• Case report