Not the Stereotypical Wilson Disease: A Case Report

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Wilson disease (WD) is a genetic disorder impacting copper metabolism, often presenting with liver or neuropsychiatric symptoms.
• Neuropsychiatric manifestations in WD typically include hyperkinetic or hypokinetic movement disorders.
• Motor stereotypies are an exceptionally rare clinical feature of Wilson disease.

Observation:

• A 12-year-old girl exhibited progressive behavioral changes and cognitive decline.
• Her primary motor symptom was stereotypies affecting the upper limbs.
• Brain imaging revealed striatal involvement consistent with Wilson disease.

Findings:

• The patient was diagnosed with Wilson disease.
• Her motor stereotypies showed a partial response to chelation therapy.
• This represents one of the few documented cases of motor stereotypies in WD globally and the second from India.

Implications:

• This case expands the known spectrum of neurological presentations in Wilson disease.
• It underscores the importance of considering rare movement disorders in the differential diagnosis of WD.
• Further research may elucidate the pathophysiology linking copper dysregulation to stereotypies.