Usefulness of the Leipzig Score in the Diagnosis of Wilson's Disease - A Diagnostically Challenging Case Report.

Abstract

Wilson's disease (WD) is a genetic disorder of copper metabolism that is inherited as an autosomal recessive (AR) due to mutations in the ATP7B gene, which is involved in intracellular copper transport. Approximately 40% to 50% of the patients present with neurological symptoms as their first symptom. The most common neurological symptoms are dysarthria, gait abnormalities, ataxia, dystonia, tremor, parkinsonism, and drooling. This case report aims to present a diagnostically challenging case of WD presenting with neurological symptoms. The 38-year-old male patient was admitted with complaints of imbalance, gait disturbance, weakness in the legs, speech impairment, tremors in the hands, syncope, and drooling. The MRI primarily revealed FLAIR, T1, and T hyperintensities in the bilateral globus pallidus of the basal ganglias. At first, the patient was evaluated according to the Leipzig scoring and received one point from the serum ceruloplasmin level and two points from the neurological symptoms and was evaluated as "possible WD" with a total of three points. 24-hour urine copper was collected during and after the D-Penicillamine challenge. After the test, there was an increase of more than 5 times the upper limit. The Leipzig score was recalculated, and a diagnosis of WD was made with a score of five. Even cases without important diagnostic findings such as Kayser-Fleischer ring or high 24-hour urine copper should be evaluated according to the Leipzig score. It is vital to distinguish WD in patients with young-onset movement disorder and neurological symptoms.