case report
He was treated for anxiety and cirrhosis. Wilson's disease was hiding in plain sight.
2026-06-23
He was treated for anxiety and cirrhosis. Wilson's disease was hiding in plain sight.
A body in decline
In February 2025, a 36-year-old man presented for evaluation of progressive weakness and drooping eyelids. His decline had begun approximately one year earlier with reduced grip strength, eventually requiring the use of a cane and walker. He suffered from cramping when walking and had lost 30 pounds unintentionally.
The patient’s wife noted he was increasingly slurring his speech and choking on water and his own saliva. Alongside these physical failures, he developed new-onset significant anxiety that disrupted his nighttime sleep. Despite a history of presumed alcoholic cirrhosis, the cause of his sudden physical and mental deterioration remained unclear.
The psychiatric and neurologic search
Initial evaluations focused on individual symptoms rather than a unified cause. He underwent MRIs of his brain and spine, as well as CT angiography, all of which were unremarkable. Because of his muscle weakness and slurred speech, doctors suspected myasthenia gravis, but antibody panels were negative, and a trial of pyridostigmine provided no benefit.
His symptoms were treated as isolated problems. His anxiety and behavioral changes were noted, but the diagnostic focus remained on potential neuromuscular etiologies. He underwent six sessions of plasma exchange and a course of IVIG without any improvement in his symptoms.
Fragmented clues
A physical exam revealed bilateral partial cranial nerve palsies, meaning he was unable to gaze downward. His muscle tone was flaccid, his reflexes were almost entirely absent, and his muscle strength was significantly decreased. Nerve conduction studies and needle EMGs were largely unremarkable, ruling out primary nerve problems but failing to explain his profound weakness.
The diagnostic course was convoluted. Multiple providers performed tests for everything from HIV and Lyme disease to heavy metals and vitamin deficiencies. Most results were within normal limits, leaving the patient without an answer as his condition persisted.
The genetic thread
The turning point came with a 211-gene genetic neuromuscular panel. The results revealed a homozygous pathogenic variant in ATP7B, the gene responsible for Wilson’s disease. This is a rare genetic disorder where the body cannot properly excrete copper, leading to toxic accumulation in the liver, brain, and other organs.
Follow-up laboratory testing confirmed the find. His serum ceruloplasmin was dangerously low at 7 mg/dL, and his 24-hour urine copper was severely elevated at 956 µg, more than fifteen times the upper limit of normal. A re-evaluation of his brain MRI showed cerebral atrophy and dilated ventricles. The "alcoholic cirrhosis" and "anxiety" were not independent issues; they were symptoms of copper poisoning the body.
Treatment and outcome
The patient was started on penicillamine, a copper-chelating medication. Within just one and a half months, he showed significant improvement in both his muscle strength and his ability to move his eyes.
However, his recovery was complicated by medication nonadherence and a subsequent drug reaction involving fevers. He was transitioned to zinc acetate while waiting for insurance approval for a different chelator, trientine. Ultimately, the patient was lost to follow-up, but his case remains a stark reminder that psychiatric symptoms and hepatic dysfunction can be the first signs of a treatable metabolic crisis.
The medical picture
24-hour urine copper
956 µg/24 h (Ref: 15-60 µg/24 h)
Ceruloplasmin
7 mg/dL (Ref: 14-30 mg/dL)
LDH
111 U/L (Ref: 125-275 U/L)
Creatine kinase
32 U/L (Ref: 30-200 U/L)
Genetic testing
Homozygous pathogenic variant of ATP7B
Adapted faithfully from the open-access case report: Cureus (PMC12807768). DOI: 10.7759/cureus.99405. Read the original at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12807768/.