Neurologic Manifestations of Wilson’s Disease: A 20-Year Evaluation in Iran

Abstract

Background: Wilson’s disease (WD) is an autosomal recessive genetic disorder that leads to defects in copper metabolism, resulting in widespread clinical manifestations that complicate diagnosis. Recognizing the clinical and paraclinical findings in patients with WD can aid in timely diagnosis and treatment. Methods: The present retrospective case series study examined all patients diagnosed with WD who were referred to Rasul Akram Hospital, Tehran, Iran, between 2002 and 2022. Diagnosis was based on the Leipzig scoring system with confirmation by a movement specialist. Clinical, laboratory, and imaging data were recorded and analyzed. Results: The study included 60 patients with neurologic WD, with a mean age of 20.78 ± 12 years. The most common neurologic manifestations were dystonia (85%), tremor (79.4%), dysarthria (68.2%), gait disturbances (65%), and hypobradykinesia (52.4%). Less frequent symptoms included psychological symptoms (46.7%), rigidity (44.2%), increased deep tendon reflexes (43.8%), dysphagia (33.3%), and ataxia (33.3%). Rare symptoms included increased muscle tone (29.2%), drooling (24.2%), an upward plantar reflex (14.7%), sensory disturbances (12.5%), seizures (10%), and chorea-athetosis (9.5%). MRI, as the most precise imaging modality for detecting neurologic involvement, commonly reveals signal changes in the putamen (45%), midbrain (31%), thalamus (27%), pons (25%), caudate nucleus (19%), and tegmentum (17%). The "face of the giant panda" sign was also observed in 18% of patients. Conclusions: In patients approximately 20 years of age, the presence of neurologic symptoms such as dystonia, tremor, dysarthria, gait disturbances, and hypokinesia should raise clinical suspicion for WD, prompting further paraclinical evaluations for early diagnosis. The findings of this study can aid in the early diagnosis of WD in the Iranian population, potentially reducing the morbidity and mortality associated with this condition.