Wilson’s Disease with Pneumothorax, Pneumomediastinum, and Subcutaneous Emphysema as the Initial Presentation: A Case Report

A bstract Wilson’s disease is a genetic disorder with autosomal recessive inheritance that generally presents with symptoms of hepatic and neurological involvement, with features of Coomb’s negative hemolytic anemia and renal involvement. However, such cases rarely present with symptoms of lung involvement. Here, we present a rare case of a 10-year-old girl who presented with respiratory distress secondary to pneumothorax and pneumomediastinum, along with features of congestive cardiac failure and renal involvement as predominant features. Due to multisystem involvement, our differentials included autoimmune and certain genetic diseases. Investigations showed Kayser–Fleischer rings along with low serum ceruloplasmin and very high 24 h urinary copper excretion. The case was diagnosed as Wilson’s disease with a rare initial presentation of pneumothorax and pneumomediastinum. Wilson’s disease should be considered a possibility in cases presenting with symptoms of lung involvement alongside the usual presenting features of hepatic, neurological, or renal involvement.