Acute Diagnosis of Wilson’s Disease in a Teenage Patient

• Main Author: Ryan McCarthy
• Format: Article
• Language: English
• Published: Marshall University 2019-10-01
• Series: Marshall Journal of Medicine
• Subjects: wilson's disease; depression; suicidal ideation; neurogenetics; copper metabolism; neurologic wilson's disease; hepatic; tremor in teenager
• Online Access: https://mds.marshall.edu/cgi/viewcontent.cgi?article=1242&context=mjm

Wilson’s Disease, a rare autosomal recessive genetic disease, is caused by a mutation in the ATP7B enzyme gene. Without this enzyme, copper builds up in the brain, liver, and cornea causing a multitude of symptoms. It is important to consider Wilson’s disease because the prognosis is dependent on timely diagnosis. This is an interesting case of a 19-year-old male who presented with suicidal thoughts and rapid weight loss. After many months and an extensive work-up, Wilson’s Disease was diagnosed. Due to his rapid decline, he was transferred to a larger university healthcare center where he is currently enrolled in clinical trial for WTX101.