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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2015; 25(01): 63-66
DOI: 10.4103/0971-3026.150155
Musculoskeletal Radiology

Hypophosphatemic osteomalacia in von Recklinghausen neurofibromatosis: Case report and literature review

Aman Gupta
Department of Radiodiagnosis, Sri Aurobindo Medical College and Post Graduate Institute, Indore, Madhya Pradesh, India
,
Abhishek Dwivedi
Department of Radiodiagnosis, Sri Aurobindo Medical College and Post Graduate Institute, Indore, Madhya Pradesh, India
,
Priyanka Patel
Department of Radiodiagnosis, Sri Aurobindo Medical College and Post Graduate Institute, Indore, Madhya Pradesh, India
,
Somya Gupta
Department of Radiodiagnosis, Sri Aurobindo Medical College and Post Graduate Institute, Indore, Madhya Pradesh, India
› Author Affiliations Financial support and sponsorship Nil.
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Abstract

Osteomalacia in neurofibromatosis is a rare entity and distinct from more common dysplastic skeletal affections of this disease. As a rule, it is characterized by later onset in adulthood. There is renal phosphate loss with hypophosphatemia and multiple pseudofractures in the typical cases. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiological mechanism-reduction in phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing rickets in children and osteomalacia in adults.

Keywords

Hypophosphatemia - neurofibromatosis - osteomalacia - von Recklinghausen disease


Publication History

Article published online:
30 July 2021

© 2015. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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