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Wilson's Disease Presenting as Resistant Rickets

Jagdish P Goyal1, Nagendra Kumar1, Sanjeev S Rao1

  • 1Department of Pediatrics, Govt Medical College, Surat, India.

Gastroenterology Research
|December 14, 2016
PubMed

Insights

Wilson's disease, a copper metabolism disorder, can present unusually. This case highlights genu valgum as a presenting symptom in a pediatric patient, emphasizing the need for thorough investigation.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Wilson's disease is an inherited disorder of copper metabolism.
  • It typically presents with a wide range of clinical manifestations.
  • Early diagnosis and treatment are crucial to prevent irreversible organ damage.

Observation:

  • A 12-year-old female child presented with a 6-month history of progressive genu valgum.
  • The patient's physical examination revealed significant valgus deformity.
  • No other typical symptoms of Wilson's disease were immediately apparent.

Findings:

  • Comprehensive investigations, including biochemical tests and imaging, were performed.
  • The diagnostic workup confirmed Wilson's disease as the underlying cause of genu valgum.
  • This case underscores the diverse and sometimes atypical presentations of Wilson's disease.

Implications:

  • Genu valgum can be an initial, albeit uncommon, presenting sign of Wilson's disease in children.
  • A high index of suspicion is necessary for diagnosing Wilson's disease with atypical symptoms.
  • Prompt identification and management of pediatric Wilson's disease are vital for favorable outcomes.

Keywords:
RicketsWilson’s disease

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