Wilson’s Disease in Children (About 52 Cases): Diagnostic and Therapeutic Difficulties

Abstract

Wilson's disease is an autosomal recessive inherited metabolic disease. It is characterized by toxic accumulation of copper in the body, mainly in the liver, central nervous system, and cornea. The aim of this work was to report our service's experience regarding the diagnostic, therapeutic, and evolutionary management of Wilson's disease. We conducted a descriptive and analytical retrospective study at the Pediatric B department of the Mohammed VI University Hospital Center in Marrakech over a period of 13years. Fifty-two cases of Wilson's disease were identified, with of which the average age at diagnosis was 10 years with extremes varying between 5 and 15 years. A male predominance of 54% was found, with a sex ratio of 1.15. Consanguinity was present in 32 cases. Clinical signs at admission were predominantly cholestatic jaundice in 38% of patients. Neurological signs, within an extrapyramidal syndrome, were found in 18 patients. Kayser-Fleisher rings were found in 35 children. Five patients were diagnosed through family screening. Biologically, a decrease in prothrombin levels at the time of diagnosis was found in 46 patients with cytolysis in 50 cases. Serum ceruloplasmin level was lowered in 46 patients, serum copper level was decreased in 41 patients, and urinary copper excretion was increased in 49 patients. Hemolytic anemia was found in 14 patients. Abdominal ultrasound revealed signs of portal hypertension on cirrhotic liver in 26 patients. Genetic testing was performed in 12 patients, revealing six different homozygous mutations in the ATP7B gene, except for 2 patients in whom no mutations were detected. Regarding treatment, D-Penicillamine is the cornerstone of Wilson's disease treatment, initiated in all patients along with adjunctive therapy and a low-copper diet, except for patients diagnosed through screening who were directly started on zinc acetate.