Acute Encephalopathy and Refractory Hypokalemia in a 12-Year-Old Boy

Area of Science:

• Medicine
• Genetics
• Neurology

Background:

• Wilson disease is an inherited disorder of copper metabolism.
• Copper accumulation in organs causes diverse clinical symptoms.
• Typical onset is between 5 and 35 years, with neurological and hepatic manifestations.

Observation:

• A 12-year-old boy presented with acute encephalopathy and tubulopathy.
• He had persistent hypokalemia.
• Diagnosis of Wilson disease was confirmed by low serum ceruloplasmin and elevated 24-hour urinary copper.

Findings:

• Wilson disease can manifest with neurological and renal symptoms.
• Hepatic evaluation may be normal in affected individuals.
• Low ceruloplasmin and high urinary copper are key diagnostic markers.

Implications:

• Highlights the importance of considering Wilson disease in acute encephalopathy cases.
• Emphasizes the need for neurological and renal assessments in diagnosis.
• Underscores that Wilson disease presentation can extend beyond typical hepatic involvement.