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Methods for the Study of the Zebrafish Maxillary Barbel
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Maxillary tumour-induced osteomalacia.

O Emodi1, A Rachmiel1, D Tiosano2

  • 1Department of Oral and Maxillofacial Surgery, the Clinical Research Institute and Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

International Journal of Oral and Maxillofacial Surgery
|March 25, 2018
PubMed
Summary

Tumour-induced osteomalacia (TIO), a rare disorder causing bone softening, was diagnosed late in a patient despite early symptoms. Prompt diagnosis using FGF23, octreotide scans, and PET/CT led to surgical cure and restored mobility.

Keywords:
FGF23alkaline phosphatasemaxillamaxillofacialosteomalaciaphosphatetumour

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Area of Science:

  • Endocrinology
  • Oncology
  • Radiology

Background:

  • Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia, and osteomalacia.
  • Delayed diagnosis in TIO can lead to severe complications, including growth limitation, bone pain, fractures, and loss of ambulation.

Observation:

  • A patient presented with symptoms of TIO at age 12 but was not diagnosed until age 18, experiencing significant physical decline.
  • Diagnostic modalities included fibroblast growth factor 23 (FGF23) analysis, octreotide scan, and 68Ga-DOTA-NOC-PET/CT, which successfully localized the tumor.

Findings:

  • Maxillary TIO was diagnosed after a 6-year delay, during which the patient suffered profound growth limitation and loss of mobility.
  • Surgical removal of the maxillary tumor via partial maxillectomy resulted in a complete cure and reversal of symptoms.
  • Post-treatment, the patient regained the ability to walk, demonstrating the efficacy of tumor resection.

Implications:

  • This case highlights the critical importance of high clinical suspicion for TIO in patients with unexplained hypophosphatemia and bone disease.
  • The prompt and accurate application of advanced diagnostic tools like FGF23 analysis and specific imaging modalities is crucial for timely diagnosis and effective treatment.
  • Early diagnosis and intervention in TIO can prevent severe long-term disability and significantly improve patient outcomes.