Keun Soo Lee1, Bo Lyun Lee2. 1. Department of Neurosurgery, Busan Paik Hospital, Inje University College of Medicine, Busan, South Korea. 2. Division of Pediatric Neurology, Department of Pediatrics, Busan Paik Hospital, Inje University College of Medicine, Bokji-ro 75, Busanjin-gu, Busan, 47392, South Korea. bototii@paik.ac.kr.
Abstract
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.
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.
Authors: I A Holm; A E Nelson; B G Robinson; R S Mason; D J Marsh; C T Cowell; T O Carpenter Journal: J Clin Endocrinol Metab Date: 2001-08 Impact factor: 5.958
Authors: Mitchel Seruya; Albert K Oh; Michael J Boyajian; John S Myseros; Amanda L Yaun; Robert F Keating; Gary F Rogers Journal: J Craniofac Surg Date: 2013-01 Impact factor: 1.046