Rare Genetic Disorder Causing Bone Demineralization in a Neonate
Author Information
Author(s): Afrah Adeeba, Finkel Michael A., Fonseca Carolina, Asato Marianne Tomiyoshi, Jay M. Susan, Pappas Athina, Gowda Shashikala B., Jay Allison
Primary Institution: University of Michigan
Hypothesis
This case report aims to describe the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT).
Conclusion
The case highlights the importance of considering rare genetic disorders in neonates with complex clinical presentations and the need for comprehensive counseling for consanguineous parents.
Supporting Evidence
- The neonate exhibited significant demineralization of skeletal structures and atypical rib morphology.
- Laboratory results showed elevated serum calcium and parathyroid hormone levels.
- Molecular testing confirmed a homozygous variant in the calcium-sensing receptor gene.
Takeaway
This study is about a baby who had a rare condition that made her bones weak and caused serious health problems, but doctors were able to help her with treatment.
Methodology
The case report was developed from a retrospective chart review.
Participant Demographics
The participant was a female neonate born to consanguineous parents.
Digital Object Identifier (DOI)
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