The first Korean case report with scaphocephaly as the initial sign of X-linked hypophosphatemic rickets

Introduction X-linked hypophosphatemic rickets (XLH) can occasionally cause premature fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23), which leads to the dysregulation of phosphate and vitamin D metabolism. Secondary craniosynostosis has long been conside...

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Bibliographic Details
Published in:Child's nervous system 2019-06, Vol.35 (6), p.1045-1049
Main Authors: Lee, Keun Soo, Lee, Bo Lyun
Format: Article
Language:English
Subjects:
Case Report
Medicine
Medicine & Public Health
Neurosciences
Neurosurgery
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Summary:Introduction X-linked hypophosphatemic rickets (XLH) can occasionally cause premature fusion of cranial sutures through an increased level of fibroblast growth factor 23 (FGF-23), which leads to the dysregulation of phosphate and vitamin D metabolism. Secondary craniosynostosis has long been considered to present late after XLH has already been diagnosed either clinically or genetically. Case presentation We present observations of a male infant showing sagittal synostosis as the first sign of XLH. Our patient did not show any other skeletal deformities except macrocephaly with a long head shape. There is a family history of genetically unconfirmed hypophosphatemic rickets in his mother. Direct sequencing by genomic polymerase chain reaction revealed that the patient has a large deletion comprising exons 1–3 of the phosphate regulating endopeptidase homolog X-linked ( PHEX ) gene. Conclusion Our observations suggest that craniosynostosis secondary to rickets can develop in early infancy. Careful monitoring of head shape and growth is therefore critical for early detection of craniosynostosis in XLH.
ISSN:0256-7040
1433-0350
DOI:10.1007/s00381-018-04042-7