Hyderabad doctor solves mystery behind 21-year-old woman’s strange gait through an eye test

A simple eye test proved to be a game changer for this 21-year-old woman who was observed with a strange gait, as though she was dancing while walking. She suffered from this condition for four years.

Dr Sudhir Kumar, on X (formerly Twitter), mentioned about the case that intrigued many.

“A 21-year-old woman was brought for evaluation. She was noted by her parents to dance while walking for the past 4 years. In addition, her voice was not clear at times. She had no psychiatric symptoms. Her memory was normal. There was no history of jaundice or any hepatic symptoms. Family history was unremarkable for neurological or hepatic disorders. On neurological examination, she exhibited dysarthria and choreoathetoid movements involving the right upper and lower extremities,” mentioned the post.

It was at this juncture that the patient underwent an ophthalmological evaluation that solved the mystery behind the strange gait. She was diagnosed with Wilson’s disease after a Kayser-Fleischer (KF) ring was observed on a slit-lamp examination.

“Serum ceruloplasmin levels were within normal limits. Magnetic Resonance Imaging (MRI) of the brain demonstrated hyperintense signal changes in the pons, midbrain, and lentiform nuclei—findings typically associated with Wilson’s disease. Based on clinical presentation, ocular findings, and characteristic MRI changes, a diagnosis of Wilson’s disease was made despite normal ceruloplasmin levels,” he said.

What is Wilson’s disease?

According to the Mayo Clinic, Wilson's disease is a rare inherited condition that causes copper levels to build up in several organs, especially the liver, brain and eyes.

The patient was then put on chelation therapy (removal of excess copper) with D-penicillamine along with pyridoxine and zinc. Over the course of treatment, she showed significant clinical improvement in both speech and motor symptoms.

The Hyderabad-based doctor discussed the case to highlight a neurologically predominant form of Wilson’s disease in a young adult with no hepatic manifestations and normal ceruloplasmin levels. He also underscored the importance of high clinical suspicion and neuroimaging, especially in atypical cases.

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