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Published on: March 4, 2014
Recurrent limb weakness as initial presentation of Wilson's disease
Partha Pratim Chakraborty1, Sanjay Kumar Mandal, Dipanjan Bandyopadhyay
1Department of Medicine, Medical College, Kolkata 700 072, India. docparthapc@yahoo.co.in
Summary
Wilson's disease can manifest as a rare cause of lower motor neuron weakness and metabolic acidosis. Early diagnosis through specific biomarkers is crucial for effective management.
Area of Science:
- Neurology
- Nephrology
- Hepatology
Background:
- Wilson's disease is a rare genetic disorder of copper metabolism.
- It typically presents with neurological, psychiatric, or hepatic symptoms.
Observation:
- A 28-year-old man presented with recurrent lower motor neuron weakness and metabolic acidosis.
- Physical exam revealed hepatosplenomegaly.
- Laboratory tests showed hypokalemia, hyperchloremia, and normal-anion-gap metabolic acidosis with abnormal liver function tests.
Findings:
- The patient was diagnosed with Type I renal tubular acidosis.
- Further investigation revealed Kayser-Fleischer rings, low serum ceruloplasmin, and high urinary copper.
- These findings confirmed the diagnosis of Wilson's disease.
Implications:
- This case highlights the importance of considering Wilson's disease in patients with unexplained metabolic acidosis and neurological deficits.
- It underscores the need for comprehensive diagnostic workup, including copper studies, in such cases.
- Timely diagnosis and treatment of Wilson's disease can prevent irreversible organ damage.
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