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

<b>Introduction</b>: 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: 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.

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Publication Details

Journal
Journal of Clinical Medicine
Published
2025-12-12
DOI
https://doi.org/10.3390/jcm14248798
Primary Topic
Liver Diseases and Immunity
Type
article
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article

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

Elena Cojocaru, Monica-Cristina Pânzaru, Gabriela Păduraru, Laura Mihaela Trandafir et al.
Journal of Clinical Medicine
Liver Diseases and Immunity
article

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

Elena Cojocaru, Monica-Cristina Pânzaru, Gabriela Păduraru, Laura Mihaela Trandafir, Vasile Valeriu Lupu, Nicoleta Gimiga, Gabriela Ghiga, Laura-Iulia Bozomitu, Lăcrămioara Ionela Butnariu, Ana Maria Scurtu
article en

Abstract

<b>Introduction</b>: 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. <b>Case Presentation</b>: 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. <b>Conclusions</b>: 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.

Journal of Clinical MedicineVol. 14(24)
University of Saint Mary (US), Grigore T. Popa University of Medicine and Pharmacy (RO)
Openalex Percentile: Top 47%
Liver Diseases and Immunity
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