Présentation inhabituelle de la maladie de Wilson chez l'enfant : hématurie macroscopique récurrente

Résumé

Wilson's disease is an autosomal recessive inherited disorder of copper metabolism. It has a variety of presentations. We reported a case of 14-year-old boy who presented with a history of recurrent macroscopic hematuria and flank pain. He had signs of chronic liver disease and dysarthria. He had kidney stones and hypercalciuria. The diagnosis of Wilson's disease was confirmed by low serum ceruloplasmin level, high 24 hours urinary copper excretion and genetic testing.