Misdiagnosed metabolic bone abnormality: a case report

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...

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Bibliographic Details
Published in:Journal of medical case reports 2023-10, Vol.17 (1), p.1-436, Article 436
Main Authors: Alsabri, Mohammed, Street, Hannah, Sircy, Aaron, Labib, Bahaaeldin
Format: Article
Language:English
Subjects:
Acidosis
Age
Amelogenesis imperfecta
Bone density
Bone diseases
Bone surgery
Case Report
Case reports
Dental enamel
Enamel hypoplasia
Genetic screening
Growth hormones
Health aspects
Kidneys
Knee
Metabolic bone disease
Metabolism
Mortality
Osteoporosis
Parents & parenting
Pediatrics
Phosphatase
Phosphorus
Rare genetic disease
Renal enamel syndrome
Rickets
Somatotropin
Teeth
Vitamin D
Vitamin deficiency
Yemen
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Summary: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. Keywords: Metabolic bone disease, Rare genetic disease, Amelogenesis imperfecta, Enamel hypoplasia, Renal enamel syndrome
ISSN:1752-1947
1752-1947
DOI:10.1186/s13256-023-04164-w