Tumor-induced rickets-osteomalacia: an enigma
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Sandeep Kumar
Abstract
Objectives
We report a case of pediatric thoracic tumor-induced osteomalacia (TIO) causing severe hypophosphatemic rickets with delayed diagnosis and emphasize on timely management of this rare entity.
Case presentation
A young boy presented with rickets since five years of age. Biochemical evaluation revealed hypophosphatemia, hyperphosphaturia, elevated alkaline phosphatase and normal calcium levels. Initially managed as hereditary hypophosphatemic rickets, he was given phosphorus supplements and calcitriol. Despite the therapy, skeletal deformities worsened requiring surgical corrections. Subsequently, he developed iatrogenic tertiary hyperparathyroidism for which he underwent total parathyroidectomy. Later on, he was found to have fibroblast growth factor-23 secreting thoracic mass (10.5 cm in largest dimension) which was excised with significant post operative improvement. Histopathology showed phosphaturic mesenchymal tumor-mixed connective tissue variant, confirming the diagnosis of TIO.
Conclusion
TIO, a correctable cause of hypophosphatemic rickets, should be considered in children presenting with hypophosphatemic rickets with evident mass on examination/imaging and in refractory cases.
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Research funding: None declared.
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Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
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Competing interests: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research reported.
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Informed consent: Informed consent was obtained from the patient for publication of clinical details and imaging and local ethics committee approval was taken.
References
1. Fernández-Cooke, E, Cruz-Rojo, J, Gallego, C, Romance, AI, Mosqueda-Peña, R, Almaden, Y, et al. Tumor-induced rickets in a child with a central giant cell granuloma: a case report. Pediatrics 2015;135:1518–23. https://doi.org/10.1542/peds.2014-2218.Suche in Google Scholar PubMed
2. Eyskens, B, Proesmans, W, Van Damme, B, Lateur, L, Bouillon, R, Hoogmartens, M. Tumour-induced rickets: a case report and review of the literature. Eur J Pediatr 1995;154:462–8. https://doi.org/10.1007/bf02029356.Suche in Google Scholar
3. Burckhardt, M, Schifferli, A, Krieg, AH, Baumhoer, D, Szinnai, G, Rudin, C. Tumor-associated FGF-23-induced hypophosphatemic rickets in children: a case report and review of the literature. Pediatr Nephrol 2015;30:179–82. https://doi.org/10.1007/s00467-014-2979-0.Suche in Google Scholar PubMed
4. Jung, GH, Kim, JD, Cho, Y, Chung, SH, Lee, JH, Sohn, KR. A nine-month-old phosphaturic mesenchymal tumor mimicking the intractable rickets. J Pediatr Orthop B 2010;19:127–32. https://doi.org/10.1097/bpb.0b013e32832f59cb.Suche in Google Scholar
5. Morrell, NT, Beck, NL, Clericuzio, C, Frias-Kletecka, C, Szalay, EA. Tumor-induced rickets presenting in an adolescent: a case report and review of the literature. JBJS Case Connect 2014;4:e79–85. https://doi.org/10.2106/jbjs.cc.n.00006.Suche in Google Scholar PubMed
6. Crossen, SS, Zambrano, E, Newman, B, Bernstein, JA, Messner, AH, Bachrach, LK, et al. Tumor-induced osteomalacia in a three-year-old with unresectable central giant cell lesions. J Pediatr Hematol Oncol 2017;39:21–4. https://doi.org/10.1097/mph.0000000000000686.Suche in Google Scholar PubMed
7. Shimada, T, Hasegawa, H, Yamazaki, Y, Muto, T, Hino, R, Takeuchi, Y, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res 2004;19:429–35. https://doi.org/10.1359/JBMR.0301264.Suche in Google Scholar PubMed
8. Michałus, I, Rusińska, A. Rare, genetically conditioned forms of rickets: differential diagnosis and advances in diagnostics and treatment. Clin Genet 2018;94:103–14. https://doi.org/10.1111/cge.13229.Suche in Google Scholar PubMed
9. Chong, WH, Molinolo, AA, Chen, CC, Collins, MT. Tumor-induced osteomalacia. Endocr Relat Cancer 2011;18:53–77. https://doi.org/10.1530/erc-11-0006.Suche in Google Scholar
10. Jiang, Y, Xia, WB, Xing, XP, Silva, BC, Li, M, Wang, O, et al. Tumor‐induced osteomalacia: an important cause of adult‐onset hypophosphatemic osteomalacia in China: report of 39 cases and review of the literature. J Bone Miner Res 2012;27:1967–75. https://doi.org/10.1002/jbmr.1642.Suche in Google Scholar PubMed
11. Shah, R, Lila, AR, Jadhav, RS, Patil, V, Mahajan, A, Sonawane, S, et al. Tumor induced osteomalacia in head and neck region: single center experience and systematic review. Endocr Connect 2019;8:1330–53. https://doi.org/10.1530/ec-19-0341.Suche in Google Scholar PubMed PubMed Central
12. Tella, SH, Amalou, H, Wood, BJ, Chang, R, Chen, CC, Robinson, C, et al. Multimodality image‐guided cryoablation for inoperable tumor‐induced osteomalacia. J Bone Miner Res 2017;32:2248–56. https://doi.org/10.1002/jbmr.3219.Suche in Google Scholar PubMed PubMed Central
13. Weidner, N. Review and update: oncogenic osteomalacia rickets. Ultrastruct Pathol 1991;15:317–33. https://doi.org/10.3109/01913129109016242.Suche in Google Scholar PubMed
14. Li, D, Zhu, R, Zhou, L, Zhong, D. Clinical, histopathologic, subtype, and immunohistochemical analysis of jaw phosphaturic mesenchymal tumors. Medicine (Baltimore) 2020;99:19090. https://doi.org/10.1097/md.0000000000019090.Suche in Google Scholar
© 2020 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Pharmacological treatment strategies for patients with monogenic obesity
- Original Articles
- Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity
- Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method
- Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg
- Relationship between breastfeeding and obesity in high school girls
- Saudi children with celiac disease: are they at risk of developing type-1 diabetes mellitus?
- The relation of serum endocan and soluble endoglin levels with metabolic control in children and adolescents with type 1 diabetes mellitus
- From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
- Thyroid peroxidase antibodies are common in children with HLA-conferred susceptibility to type 1 diabetes, but are weakly associated with thyroid function
- Individualized dosimetry in children and young adults with differentiated thyroid cancer undergoing iodine-131 therapy
- Association study of DLK1 in girls with idiopathic central precocious puberty
- Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
- Fibroblast growth factor 23 and its role in phosphate homeostasis in growing children compared to adults
- Utility and duration of leuprolide stimulation testing in children
- Effect of an interval rehabilitation program with home-based, vibration-assisted training on the development of muscle and bone in children with cerebral palsy – an observational study
- Case Reports
- Metyrapone as treatment in the neonatal McCune–Albright syndrome
- Tumor-induced rickets-osteomalacia: an enigma
- Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature
- Hypercalcemia from hypervitaminosis A in a child with autism
Artikel in diesem Heft
- Frontmatter
- Review Article
- Pharmacological treatment strategies for patients with monogenic obesity
- Original Articles
- Influence of FTO (Fat mass and obesity) gene and parental obesity on Brazilian children and adolescents adiposity
- Developing waist circumference, waist-to-height ratio percentile curves for Pakistani children and adolescents aged 2–18 years using Lambda-Mu-Sigma (LMS) method
- Screening for celiac disease among children with overweight and obesity: toward exploring celiac iceberg
- Relationship between breastfeeding and obesity in high school girls
- Saudi children with celiac disease: are they at risk of developing type-1 diabetes mellitus?
- The relation of serum endocan and soluble endoglin levels with metabolic control in children and adolescents with type 1 diabetes mellitus
- From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus
- Thyroid peroxidase antibodies are common in children with HLA-conferred susceptibility to type 1 diabetes, but are weakly associated with thyroid function
- Individualized dosimetry in children and young adults with differentiated thyroid cancer undergoing iodine-131 therapy
- Association study of DLK1 in girls with idiopathic central precocious puberty
- Clinical, biochemical and genetic characteristics of children with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
- Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study
- Fibroblast growth factor 23 and its role in phosphate homeostasis in growing children compared to adults
- Utility and duration of leuprolide stimulation testing in children
- Effect of an interval rehabilitation program with home-based, vibration-assisted training on the development of muscle and bone in children with cerebral palsy – an observational study
- Case Reports
- Metyrapone as treatment in the neonatal McCune–Albright syndrome
- Tumor-induced rickets-osteomalacia: an enigma
- Porto-systemic shunt – a rare cause of hyperandrogenism in children. Two case reports and review of literature
- Hypercalcemia from hypervitaminosis A in a child with autism
