A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis
KeywordsOsteomalacia, neurofibromatosis, hypophosphatemia
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.
Issue: 2021: Vol 8 No 5 (view)