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Recurrent limb weakness in a 17-year-old boy

Rajoo Thapa1, Biswajit Biswas, Debkrishna Mallick

  • 1Division of Pediatric Neurology, the Institute of Child Health, Kolkata, West Bengal, India. rajoothapa@yahoo.co.in

Clinical Pediatrics
|February 28, 2009
PubMed

Insights

Wilson disease, a rare inherited copper disorder, can present with hypokalemic weakness and hepatitis in adolescents. Early diagnosis through specific tests is crucial for effective treatment with penicillamine and zinc.

Area of Science:

  • Genetics and Metabolism
  • Hepatology
  • Neurology

Background:

  • Wilson disease is an inherited disorder of copper metabolism, leading to toxic accumulation.
  • Genetic defects impair the biliary excretion pathway for excess copper.

Observation:

  • A 17-year-old male presented with recurrent hypokalemic weakness and undetermined etiology since age 12.
  • Clinical findings included lower motor neuron weakness, preserved reflexes, and minimal sensory deficits.
  • Investigations revealed distal renal tubular acidosis, hepatitis, and Kayser-Fleischer rings.

Findings:

  • Diagnosis of Wilson disease was confirmed by low serum ceruloplasmin, high serum copper, and elevated urinary copper.
  • Biochemical markers confirmed copper overload and impaired excretion.
  • The patient showed a positive response to penicillamine and zinc therapy.

Implications:

  • Hypokalemic weakness and unexplained hepatitis in children may indicate Wilson disease.
  • Early identification and treatment are vital for managing this rare genetic disorder.
  • This case highlights the importance of considering Wilson disease in pediatric patients with neurological and hepatic symptoms.

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