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The Right Leg that Troubled the Left Leg.

The Journal of the Association of Physicians of India·2023
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Proband and the Brother.

Santosh B1, Jyothsna Priya Kotha1

  • 1Bangalore Baptist Hospital, Bengaluru, Karnataka, India.

The Journal of the Association of Physicians of India
|April 28, 2023
PubMed
Summary

Camurati-Engelmann disease (CED) is a rare genetic disorder causing bone overgrowth. Early diagnosis through genetic testing and family history is key for effective treatment with Losartan, leading to pain relief.

Area of Science:

  • Genetics
  • Orthopedics
  • Rare Diseases

Background:

  • Camurati-Engelmann disease (CED) is a rare autosomal dominant disorder characterized by hyperostosis, limb pain, and muscle weakness.
  • Genetic mutations in the TGF Beta-1 gene on chromosome 19 are the cause of CED.
  • Diagnosis involves characteristic radiographic findings and molecular genetic testing for TGF Beta-1 mutations.

Observation:

  • A 40-year-old female presented with left lower limb pain and tenderness.
  • Imaging revealed sclerotic lesions and abnormal osteoblastic activity, with PET-CT showing hyperostosis suggestive of CED.
  • Family history of a sibling with a limp prompted further investigation.

Findings:

  • The patient tested positive for a TGF Beta-1 mutation, confirming the diagnosis of CED.

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  • Her brother was also diagnosed with CED after evaluation for his childhood limp.
  • Treatment with Losartan resulted in complete pain relief for the patient.

    • Implications:

    • This case highlights the importance of considering family history in diagnosing rare genetic bone disorders like CED.
    • Early diagnosis and treatment with Losartan can effectively manage symptoms and improve patient quality of life.
    • Further research into TGF Beta-1 mutations and CED pathogenesis is warranted.