Neurological Type Wilson’s Disease: a Case Report

Abstract

Wilson’s disease (WD) was defined in 1912 as a rare autosomal recessive disorder that leads to defective excretion of copper from the body. Normally, copper is absorbed in the small intestine by enterocytes and transported into the blood via ATP7A proteins. Any excess copper is directed to the liver and excreted by hepatocytes via ATP7B. However, in patients with WD, this ATP7B protein is mutated, and copper accumulates within the body, causing various symptoms. Wilson’s disease can manifest in many different ways, such as neurological, fulminant hepatic fibrosis, ophthalmic, and even psychiatric presentation types, making it difficult to diagnose. Wilson’s disease is essential in the differential diagnosis of an individual expressing neurological symptoms because it is a treatable disease that can progressively increase in severity, and if left untreated, there is a risk of permanent brain impairment. In this case report, a 32-year-old female initially presents progressively worsening dystonia symptoms of the trunk, a wing-flapping tremor, cognitive dysfunction, and dysphonia. In terms of past medical history and past surgical history, no records were available, and she had no recollection of past genetic testing or brain MRIs but claimed to be taking Cuprimine® (penicillamine), Artane (trihexyphenidyl), and oxycodone. The physician performed a physical examination and ordered a brain MRI to collect supportive evidence for the WD diagnosis. This case illustrates a classic presentation of the neurologic type WD in the context of facilitating patient education, performing thorough physical examinations, and adjusting patient treatment plans.

This article is part of the Topical Collection on Medicine