A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

  • Yasmine Makhlouf Department of Rheumatology, Rabta Hospital, Tunisia
  • Soumaya Boussaid Department of Rheumatology, Rabta Hospital, Tunisia
  • Houda Ajlani Department of Rheumatology, Rabta Hospital, Tunisia
  • Samia Jemmali Department of Rheumatology, Rabta Hospital, Tunisia
  • Sonia Rekik Department of Rheumatology, Rabta Hospital, Tunisia
  • Hela Sehli Department of Rheumatology, Rabta Hospital, Tunisia
  • Mouhamed Eleuch Department of Rheumatology, Rabta Hospital, Tunisia

Keywords

Osteomalacia, neurofibromatosis, hypophosphatemia

Abstract

Background: Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a one of the more common hereditary autosomal disorders. However, osteomalacia in neurofibromatosis type 1 is very rare tumour-induced osteomalacia; fibroblast growth factor-23 is usually implicated.

Patients and methods: We report the case of a patient with a history of von Recklinghausen neurofibromatosis who presented with hypophosphataemic osteomalacia.

Results: The patient was treated with high-dose calcitriol and oral phosphate with clinical improvement.

Conclusion: Even though it is a rare entity, we must consider the diagnosis of hypophosphataemic osteomalacia in patients with neurofibromatosis in order to deliver appropriate treatment.

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  • Published: 2021-05-25

    Issue: 2021: Vol 8 No 5 (view)

    Section: Articles

    How to cite:
    1.
    Makhlouf Y, Boussaid S, Ajlani H, Jemmali S, Rekik S, Sehli H, Eleuch M. A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis. EJCRIM 2021;8 doi:10.12890/2021_002618.