Acute Diagnosis of Wilson’s Disease in a Teenage Patient

Abstract

Introduction: Wilson's disease is a rare autosomal recessive disease caused by a mutation in the ATP7B gene which leads to impaired copper metabolism, excretion into bile, and incorporation into ceruloplasmin. Then, copper builds up in the liver, cornea, and brain. Patients usually present between the ages of 5-35 years. A variety of hepatic and psychiatric symptoms are usually present such as: hepatitis, cirrhosis, Parkinsonism, chorea, depression, or personality changes. Due to the build-up of copper in the cornea, a yellowish ring called a Kayser-Fleischer Ring is produced. Diagnosis is made through decreased serum ceruloplasmin, liver biopsy, MRI, and urine copper. Case: This case is a 19-year-old male who recently graduated High School. During a several month period, he experienced drastic personality change and other symptoms including: weight loss, dysphagia, tremor, and drooling. When presented to the ED with suicidal ideation, he was admitted to a psychiatric facility for one week. Upon discharge, he continued to decline, even with his prescribed antidepressants. A neurologist ordered an MRI due to a recent motor vehicle accident and a suspicion for a concussion. The MRI showed lesions significant to Wilson's disease. He was referred to an ophthalmologist who found Kayser- Fleischer rings of his cornea. After the 24-hour urinalysis and ceruloplasmin level he was officially diagnosed with Wilson's disease. He began penicilamine therapy, but continued to decline. He is now participating in an ongoing trial for WTX101 therapy. Importance: This case is noteworthy because it can be difficult to make the diagnosis. It is estimated that only 50% of patients with Wilson's disease are actually diagnosed. Although this is a rare disease, it is important to consider for young patient's presenting with new onset neurologic symptoms. Often the psychiatric symptoms can be overlooked in young individuals such as: depression, substance abuse, schizophrenia, or bipolar. The prognosis of this disease is dependent on prompt initiation of therapy. Some studies have shown complete resolution of brain parenchyma lesions if therapy is started within 24 months of initial symptoms. However, if therapy is not started within this time period, parenchymal lesions can be permanent. Without medication this disease is fatal.The male described above is included in a trial for WTX101. This medication works by directly removing excess copper from hepatocytes. It also forms a complex with albumin and copper to promote biliary copper excretion.