Hypophosphataemic osteomalacia in neurofibromatosis


Published online: Dec 27 2009

Manish Chadha, Ajay Pal Singh, Arun Pal Singh

From University College of Medical Sciences & Guru Teg Bahadur Hospital, Delhi, India

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.