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Craniosynostosis as the Presenting Feature of X-linked Hypophosphatemic Rickets

Janaki D Vakharia1,2, Kristal Matlock3,4, Helena O Taylor5,6

  • 1Division of Pediatric Endocrinology, The Warren Alpert Medical School, Brown University, Providence, Rhode Island.

Pediatrics
|April 4, 2018
PubMed

Insights

Craniosynostosis, premature suture closure, can be an early sign of X-linked hypophosphatemic rickets (XLH). This study reports the first cases of primary craniosynostosis in infants with XLH, highlighting a potential presenting feature of the disease.

Area of Science:

  • Pediatrics
  • Genetics
  • Metabolic Bone Disease

Background:

  • Craniosynostosis is the premature fusion of cranial sutures, occurring either primarily (congenital) or secondarily due to metabolic conditions.
  • X-linked hypophosphatemic rickets (XLH) is a genetic disorder affecting phosphate metabolism, typically presenting with rickets.
  • While secondary craniosynostosis is known in metabolic bone diseases, primary craniosynostosis in XLH is not well-documented.

Observation:

  • Two unrelated infants presented with primary craniosynostosis.
  • Genetic testing confirmed XLH in both patients.
  • One infant showed craniosynostosis before other XLH symptoms; the other developed rickets after craniosynostosis.

Findings:

  • This study details the first reported instances of primary craniosynostosis in infants with XLH.
  • Craniosynostosis was identified as an early, potentially presenting, feature of XLH.
  • The findings highlight the variability in XLH presentation.

Implications:

  • Craniosynostosis should be considered in the differential diagnosis of infants with XLH.
  • Early recognition of craniosynostosis may facilitate timely XLH diagnosis and management.
  • This expands understanding of the clinical spectrum of XLH.

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