Makhlouf, Yasmine and Boussaid, Soumaya and Ajlani, Houda and Jemmali, Samia and Rekik, Sonia and Sehli, Hela and Eleuch, Mouhamed (2021) A Rare Case of Hypophosphataemic Osteomalacia in von Recklinghausen Neurofibromatosis. European Journal of Case Reports in Internal Medicine, 8 (5). pp. 1-4. ISSN ISSN: 2284-2594
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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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | Osteomalacia, neurofibromatosis, hypophosphatemia |
| Subjects: | 600 Tecnologia - Scienze applicate 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici) > 616 Malattie (classificare qui la Clinica medica, la medicina basata sull'evidenza, la Medicina interna, la Medicina sperimentale) |
| Depositing User: | Marina Spanti |
| Date Deposited: | 19 Jan 2022 16:56 |
| Last Modified: | 19 Jan 2022 16:56 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/21241 |
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