Casi indimenticabili
Wilson Wilson Wilson
Wilson Wilson Wilson
Annalisa Carciofi1, Fabrizio Pugliese2, Irene D’Alba3, Paola Coccia3, Maria Elena Lionetti2, Simona Gatti2
1Scuola di Specializzazione in Pediatria, Università Politecnica delle Marche
2SOD Clinica Pediatrica a indirizzo genetico-metabolico e gastro-nefrologico, 3SOSD Oncoematologia Pediatrica, Ospedale Salesi, Ancona
Maggio 2025 | DOI: 10.53126/MEBXXVIIIMA120
Abstract
A 13-year-old boy was admitted with abdominal pain, vomiting and unexplained cytopoenia. Initial investigations showed splenomegaly, ileal wall thickening, hepatic structural alterations and persistent pancytopenia. Extensive infectious, haematological and metabolic workups yielded negative results. Only after progressive evaluation of hepatic involvement - including transient elastography and copper metabolism studies - was Wilson’s disease diagnosed, confirmed by low ceruloplasmin, Kayser-Fleischer ring and brain MRI changes. This case underscores the diagnostic complexity of Wilson’s disease and highlights the importance of a holistic approach in evaluating patients with atypical, multisystemic presentations.
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