Work

Wilson’s Disease with Autoimmune Hepatitis Manifestation in a Pediatric Patient: A Case Report and Literature Review

Year: 2025

Type: article

Abstract: Introduction: Wilson’s disease (WD) and autoimmune hepatitis (AIH) are important causes of acute and chronic hepatitis; each can lead to serious complications. The coexistence of these two diseases in the same patient is rare and poses significant diagnostic and therapeutic challenges. The pathophysiological mechanism in WD involves hepatocellular necrosis and the exposure of intracellular antigens to the immune system, resulting in the production of low-titer autoantibodies, which may be misleading and complicate the differentiation between WD and AIH. Case Presentation: We report the case of an 11-year-old girl admitted with abdominal pain, fatigue, and scleral jaundice. Physical examination revealed mild hepatomegaly without splenomegaly. Laboratory investigations were consistent with Wilson’s disease, and treatment with D-penicillamine was initiated. The initial clinical course was favorable; however, six weeks later, the patient again presented with acute hepatitis. A liver biopsy with histochemical analysis revealed findings highly suggestive of both Wilson’s disease and autoimmune hepatitis, confirming a dual diagnosis. Conclusions: The overlap of clinical and biochemical features between AIH and WD can delay accurate diagnosis and treatment, potentially affecting patient outcomes. Although the coexistence of Wilson’s disease and autoimmune hepatitis in the same child is rare, clinicians should maintain a high index of suspicion, given the complex management and the risk of complications associated with both disorders.

Source: Journal of Clinical Medicine

DOI: 10.3390/jcm14248798