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.

VIEW THE ENTIRE ARTICLE

References

  • Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales. Brain 1988;111:1355–1381.
  • Gupta A, Dwivedi A, Patel P, Gupta S. Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis: case report and literature review. Indian J Radiol Imaging 2015;25(1):63–66.
  • Jacob JJ, Finny P, Thomas M, Thomas N, John M. Oncogenic osteomalacia. J Assoc Physicians India 2007;55(1):231–233.
  • Drezner MK. Oncogenic rickets and osteomalacia. In: Favus MJ, editor. Primer on the metabolic bone diseases and disorders of mineral metabolism. 3rd ed. Philadelphia: Lippincott-Raven; 1996, p. 319–325.
  • Konishi K, Nakamura M, Yamakawa H, Suzuki H, Saruta T, Hanaoka H, et al. Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis. Am J Med Sci 1991;301(5):322–328.
  • Morlock G, Savary JP, Sebert JL, Durroux R, Gardiol JC. Osteomalacie vitamino-résistante hypophosphatémique associée à une neurofibromatose. Rev Rhum Mal Osteoartic 1982;49:125–130.
  • Abdel-Wanis M, Kawahara N. Hypophosphatemic osteomalacia in neurofibromatosis 1: hypotheses for pathogenesis and higher incidence of spinal deformity. Med Hypotheses 2002;59(2):183–185.
  • Favere AM, Tsukumo DM, Matos PS, Santos SL, Lalli CA. Association between atypical parathyroid adenoma and neurofibromatosis. Arch Endocrinol Metab 2015;59(5):460–466.
  • Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol 2006;50(4):802–813.
  • Dominguez JH, Gray RW, Lemann J Jr. Dietary phosphate deprivation in women and men: effects on mineral and acid balances, parathyroid hormone and metabolism of vitamin D. J Clin Endocrinol Metab1976;43(5):1056–1068.

    • Views: 570
    HTML downloads: 92
    PDF downloads: 307

    Published: 2021-05-25
    Issue: 2021: Vol 8 No 5 (view)

    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.