Severe hypophosphataemia can be an early sign of osteopetrorickets: a case report
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Artemis Doulgeraki
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Laura Bani-Odeh
Abstract
Osteopetrorickets is a rare complication of autosomal recessive (“malignant”) osteopetrosis. Its prompt diagnosis is essential, because early suspicion of infantile osteopetrosis enables treatment with human stem cell transplantation, depending on the gene involved. It is important to identify not only the characteristic radiological changes of rickets, but also the coexistence of increased bone density, so as not to miss this very rare entity. Herein, a brief case report is presented.
Acknowledgments
The authors wish to thank the parents for providing their consent for presentation of this case. They are also greatful to Dr Ioannis Papoulidis for providing detailed information on the genetic analysis of our patient.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
References
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Supplementary Material
This article contains supplementary material (https://doi.org/10.1515/jpem-2023-0001).
© 2023 Walter de Gruyter GmbH, Berlin/Boston
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- Effect of metabolic control on cognitive functions in children and adolescents with type 1 diabetes mellitus
- Uric acid and sCD163 as biomarkers for metabolic dysfunction and MAFLD in children and adolescents with overweight and obesity
- Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy
- Evaluation and management of pediatric thyroid nodules and thyroid cancer at a single institution after adoption of the American Thyroid Association 2015 guidelines
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- Association of adipocytokines and adipocytokine ratios with cardiovascular risk factors in Japanese preadolescents
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- A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
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