A previously healthy 13-year-old girl with a 5-month-history of hypersalivation, dysarthria, tremor, thrombocytopenia, and leukopenia was admitted to our hospital. On examination we noticed hypersalivation with an incomplete closing of the mouth, dysarthria, splenomegaly, resting and action tremor of the upper extremities, and slightly weakened hand grip. Jaundice, palmar erythema, or spider-like nevus were not present. Her body mass index was in the 1st percentile (Z-score -2.21). Magnetic resonance (MRI) of the brain showed abnormal T2 hyperintensity in the basal ganglia, mesencephalon, and pons. Abdominal ultrasound indicated diffuse changes in liver parenchyma with circular edges, regenerative nodes, splenomegaly, and suspected portal hypertension, without ascites. Fibrosis was confirmed by liver fibroscan and abdominal MRI, which corresponded to laboratory findings (lower prothrombin time, levels of coagulation factors and albumin, bicytopenia, but with normal ALT and bilirubin; only AST and GGT were minimally above the upper normal limit). Esophagogastroduodenoscopy revealed esophageal varices grade I and portal gastropathy due to portal hypertension. Kayser Fleischer ring was present. Low ceruloplasmin levels and positive penicillamine test further confirmed the suspicion for Wilson’s disease which was confirmed by genetic testing that showed homozygous H1069Q mutation. Once the diagnosis was established, we gathered a multidisciplinary team which included neurologist, gastroenterologist, hematologist, cardiologist, nephrologist, rheumatologist, endocrinologist, dietitian, and psychologist. There were no signs of renal tubular damage and the heart was structurally healthy.

Penicillamine was gradually introduced, but not to the maximum dose recommended by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). One week later zinc acetate was added into the therapy. We have chosen this scheme because of the risk of hematological complications at the penicillamine full dose. Vitamin D and calcium supplementation was introduced due to reduced bone density. Other supportive therapy included a copper-free diet, high-energy oral nutritional supplement adjusted for patients with liver disease, MCT oil, and gastroprotection. Two months after initiation of therapy cupriuria is threefold increased as compared to the initial values suggesting efficacy of therapy. She has not had side effects with this combination therapy.

Although the most common presentation of Wilson’s disease in childhood includes liver disease, we should be aware of its possibility to present with neurological symptoms without obvious clinical signs of liver disease, despite the existence of cirrhosis. A multidisciplinary team is required to monitor possible complications of the disease, side effects of the therapy and offer psychological support to the patient and their family.