Misdiagnosed metabolic bone abnormality: a case report

Journal of Medical Case Reports

Case Report

Aaron Sircy¹  Hannah Street²  Mohammed Alsabri³  Bahaaeldin Labib⁴ 

[1] CMEF Aultman Hospital, 2600 6th st. SW, 44710, Canton, OH, USA;NYU Langone Medical Center, 550 1st Avenue, 10016, New York, NY, USA;Pediatrics, 1 Brookdale University Hospital and Medical Center, 1Brookdale Plaza, 11212, Brooklyn, NY, USA;Emergency Medicine Department, Al Thawra Modern General Hospital (TMGH), Sana’a City, Yemen;College of Osteopathic Medicine, NYIT, Glen Head, NY, USA;Rutgers-Robert Wood Johnson University Hospital, 200 Somerset Street, 08901, New Brunswick, NJ, USA;

关键词: Metabolic bone disease;    Rare genetic disease;    Amelogenesis imperfecta;    Enamel hypoplasia;    Renal enamel syndrome;   

DOI  :  10.1186/s13256-023-04164-w

 received in 2023-01-31, accepted in 2023-09-05,  发布年份 2023

来源: Springer

【 摘 要 】

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

【 授权许可】

CC BY   
© BioMed Central Ltd., part of Springer Nature 2023

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