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Journal of Medical Case Reports

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Open Access 01-12-2023 | Genu Valgum | Case report

Misdiagnosed metabolic bone abnormality: a case report

Authors: Mohammed Alsabri, Hannah Street, Aaron Sircy, Bahaaeldin Labib

Published in: Journal of Medical Case Reports | Issue 1/2023

Abstract

Background

Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed.

Case presentation

A 5-year and 9-month-old otherwise healthy Yemeni girl presented to her Yemen physician for evaluation of inward bending of her right knee and short stature. After extensive medical testing, she was given a diagnosis of hypophosphatemic rickets and growth hormone deficiency and started on treatment. Despite appropriate treatment, however, her condition continued to progress, prompting her family to pursue additional workup including genetic testing outside of Yemen. Genetic testing ultimately revealed a variation of unknown significance associated with amelogenesis imperfecta.

Conclusions

Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. However, the patient’s condition did not improve. Further genetic testing revealed a variation of unknown significance associated with amelogenesis imperfecta. We aim to present this case, provide an overview of the causes, and diagnostic metabolic bone health evaluation.

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Title: Misdiagnosed metabolic bone abnormality: a case report
Authors: Mohammed Alsabri
Hannah Street
Aaron Sircy
Bahaaeldin Labib
Publication date: 01-12-2023
Publisher: BioMed Central
Keywords: Genu Valgum
Rickets
Hypophosphatemic Rickets
Acidosis
Published in: Journal of Medical Case Reports / Issue 1/2023
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-023-04164-w

At a glance: The STEP trials

Springer Medicine

Misdiagnosed metabolic bone abnormality: a case report

Abstract

Background

Case presentation

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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