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22-07-2024 | Rickets | Teaching Case Presentations

A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges

Authors: Eleni Statha, George Paltoglou, Artemis Doulgeraki, Eleni Vakali, Elpis Vlachopapadopoulou, Stavroula Economou, Irini-Ikbale Sakou, Alexandra Soldatou, Kyriaki Karavanaki, Elena Fryssira

Published in: Hormones

Abstract

Background

Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH)₂D.

Case presentation

An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered.

Conclusion

VDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.

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Title: A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges
Authors: Eleni Statha
George Paltoglou
Artemis Doulgeraki
Eleni Vakali
Elpis Vlachopapadopoulou
Stavroula Economou
Irini-Ikbale Sakou
Alexandra Soldatou
Kyriaki Karavanaki
Elena Fryssira
Publication date: 22-07-2024
Publisher: Springer International Publishing
Keywords: Rickets
Respiratory Syncytial Virus in Pediatrics
Bronchiolitis
Pediatric Diagnostics
Growth and Stunted Growth
Genetic Testing
Molecular Genetics
Pharmacotherapy in Children
Metabolic Disease and Nutrition
Growth and Development
Growth and Stunted Growth
Respiratory Syncytial Virus Infection
Infectious Pulmonary Diseases
Published in: Hormones
Print ISSN: 1109-3099
Electronic ISSN: 2520-8721
DOI: https://doi.org/10.1007/s42000-024-00579-2

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on modern management of frailty

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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