DOI: 10.12890/2021_002618

A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis

Authors

  • 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

yasmine.mkhlouf@gmail.com

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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References

  1. Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis: a clinical and population study in south-east Wales. Brain 1988;111:1355–1381.
  2. 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.
  3. Jacob JJ, Finny P, Thomas M, Thomas N, John M. Oncogenic osteomalacia. J Assoc Physicians India 2007;55(1):231–233.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Menezes Filho H, de Castro LC, Damiani D. Hypophosphatemic rickets and osteomalacia. Arq Bras Endocrinol Metabol 2006;50(4):802–813.
  10. 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.

Published

2021-05-25

Issue

Vol. 8 No. 5 (2021)

How to Cite

1.
Makhlouf Y, Boussaid S, Ajlani H, Jemmali S, Rekik S, Sehli H, et al. A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis. EJCRIM [Internet]. 2021 May 25 [cited 2026 Nov. 3];8(5). Available from: https://ejcrim.com/index.php/ejcrim/article/view/2618