A Challenging Case of Wilson's Disease

Abstract

Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea. The clinical presentation of WD can vary widely. Diagnosis requires a combination of clinical and biochemical findings. We present a case of a 20-year-old woman who presented to the Emergency Room with progressive motor decline. She exhibited characteristic neurological symptoms and signs, such as hypomimia, bradyphrenia, bradykinesia, dysarthria, sialorrhea, upper limb dystonia, and wing-beating tremor. Ophthalmological examination revealed corneal deposits known as Kayser-Fleischer rings. Laboratory investigations demonstrated low levels of ceruloplasmin and elevated serum copper. Brain MRI showed typical signs of copper deposition in the basal ganglia. The Leipzig criteria were used to confirm the diagnosis. Treatment with penicillamine and zinc acetate resulted in symptom improvement. This case highlights the diverse presentation of WD and the importance of early diagnosis and prompt treatment initiation.

Keywords: atp7b; ceruloplasmin; chelation; copper; liver; wilson's disease.

Figure 1. Kayser-Fleischer (KF) ring (arrow). Evaluation of KF ring was done by naked eye examination using torch light.

Figure 2. Patient's brain MRI. (A) T2 FLAIR images revealed symmetrical hypersignal in the thalami, lentiform nuclei, and lateral aspects of the brainstem. (B, C) Axial T2 FLAIR images showed hypersignal in the tegmental and mesencephalic roof.

Figure 3. Patient's abdominal MRI revealing a liver with diffuse heterogenic nodular structure (white arrow) and mild splenomegaly (orange arrow).