Wilson disease with thrombocytopenia (case report).

Area of Science:

• Pediatric Endocrinology
• Hepatology
• Rare Diseases

Background:

• Wilson disease (WD) is a rare genetic disorder of copper metabolism, typically presenting in adolescence or early adulthood.
• Clinical manifestations of WD are diverse, often involving the liver, brain, and other organs, making early diagnosis challenging.

Observation:

• A 14-year-old female presented with secondary amenorrhea, ascites, ovarian cysts, jaundice, edema, and purpuric rash.
• Despite symptoms, hepatomegaly and splenomegaly were absent; laboratory tests revealed low ceruloplasmin and elevated copper levels.
• Liver biopsy confirmed severe hepatocellular necrosis, inflammation, and fibrosis, while bone marrow aspiration showed no increased megakaryocytes.

Findings:

• The patient was diagnosed with Wilson disease based on characteristic biochemical and histological findings.
• Thrombocytopenia was present, not solely attributable to hypersplenism, and autoimmune/viral causes were excluded.
• The constellation of symptoms, including secondary amenorrhea and thrombocytopenia, pointed towards WD as the underlying cause.

Implications:

• This case highlights the importance of considering WD in adolescents presenting with unexplained secondary amenorrhea.
• Evaluation for WD is crucial in children with unexplained thrombocytopenia, as early intervention can prevent irreversible liver damage.
• Prompt diagnosis and treatment of WD can lead to the reversal of clinical manifestations and restoration of normal liver function.