Hypophosphataemic osteomalacia in neurofibromatosis

Acta Orthop Belg. 2009 Dec;75(6):847-50.

Abstract

Oncogenic Osteomalacia syndrome is associated with mesenchymal tumours, caused by a protein secreted from tumours which inhibits tubular renal phosphate absorption and reduces 1,25 dihydroxy vitamin-D renal conversion. It manifests as osteomalacia with hypophosphataemia and hyperphosphaturia. Association of neurofibromatosis with oncogenic osteomalacia is unusual. We report a rare case of oncogenic osteomalacia with generalized neurofibromatosis which presented to us as pathological fracture.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Femoral Fractures / etiology
  • Fractures, Spontaneous / etiology
  • Humans
  • Hypophosphatemia / complications*
  • Middle Aged
  • Neurofibromatoses / complications*
  • Osteomalacia / complications*