In Wilson’s disease, excess copper accumulates in vital organs, causing a wide range of symptoms depending on where the burden is highest.
Published Apr 11, 2025 | 7:00 AM ⚊ Updated Apr 11, 2025 | 7:00 AM
An Indian woman walking. Representative image. (iStock)
Synopsis: Wilson’s disease is a rare genetic disorder in which the body is unable to properly eliminate excess copper, leading to its buildup in the liver, brain, and eyes. If left untreated, it can cause serious liver damage, and neurological symptoms, and even be life-threatening.
When a 21-year-old woman began showing unusual movements while walking — what looked almost like dancing — her family initially brushed it off. However, when the odd gait continued for four years, along with occasional slurring of speech, they brought her to neurologist Dr Sudhir Kumar at a Hyderabad hospital.
“She appeared to dance while walking,” her parents told the doctor. She had no mental health issues, no memory problems, and no history of liver trouble or jaundice, said Dr Kumar. Her family history was also clear of any neurological or liver-related disorders.
However, during the neurological examination, Dr Kumar noticed signs that pointed to something more serious. The young woman had dysarthria, a condition where muscle control for speech is affected, causing unclear or slurred speech.
She also displayed choreoathetoid movements — involuntary, jerky, and writhing motions — in her right arm and leg.
A clue came when an ophthalmologist was called in for further evaluation. “A Kayser-Fleischer (KF) ring — a copper-coloured ring around the cornea seen on a slit-lamp exam — was discovered,” said Dr Kumar.
What seemed like dance was, in fact, a symptom of a treatable neurological condition.
It was Wilson’s disease, a rare genetic disorder in which the body is unable to properly eliminate excess copper, leading to its buildup in the liver, brain, and eyes. If left untreated, it can cause serious liver damage, and neurological symptoms, and even be life-threatening. However, with early diagnosis, it is treatable and manageable.
To further investigate, doctors ordered blood tests, including serum ceruloplasmin — a protein that typically drops in Wilson’s disease. Surprisingly, her ceruloplasmin levels were within normal range, a finding that could have thrown off the diagnosis.
However, the brain had more to say.
An MRI scan revealed hyperintense signal changes in specific brain regions — the pons, midbrain, and lentiform nuclei. These areas are often affected in Wilson’s disease due to copper buildup disrupting normal brain function. The imaging findings were strikingly consistent with the disease.
Despite the normal ceruloplasmin levels, the clinical presentation, the presence of KF rings, and the MRI abnormalities sealed the diagnosis: Wilson’s disease.
In Wilson’s disease, excess copper accumulates in vital organs, causing a wide range of symptoms depending on where the burden is highest. While many patients show liver-related issues first, in this young woman’s case, the disease manifested neurologically, with no signs of liver dysfunction.
“This case highlights a neurologically predominant form of Wilson’s disease in a young adult with no hepatic symptoms,” said Dr Kumar. It underscores the importance of high clinical suspicion, especially in atypical presentations.
In simpler terms — sometimes, what looks like a quirky walk or harmless slurring might actually be the brain sending an SOS. And in rare but treatable conditions like Wilson’s disease, early recognition can mean the difference between progression and recovery.
With the diagnosis confirmed, the young woman was started on chelation therapy — a treatment that removes excess copper from the body — using D-penicillamine, along with pyridoxine (vitamin B6) and zinc, which helps block copper absorption from food.
“Approximately five percent to 15 percent of patients with Wilson’s disease may have normal serum ceruloplasmin levels,” said Dr Kumar.
“This is why it’s crucial not to rely on a single test. Neurological symptoms usually begin between the ages of 10 and 30, often peaking in the late teens or early twenties. And Kayser-Fleischer rings are present in over 90 percent of patients with neurological Wilson’s disease,” he added.
(Edited by Muhammed Fazil.)
