Hypophosphatasia is a rare metabolic bone disorder that predisposes patients to craniosynostosis. Typically, patients born with hypophosphatasia will exhibit fused cranial sutures at birth. This is the first reported case of delayed onset of pancraniosynostosis in a patient with infantile hypophosphatasia. The severity of onset and delayed presentation in this patient are of interest and should give pause to those care providers who treat and evaluate patients with hypophosphatasia.
FeddeK.N., BlairL., SilversteinJ., CoburnS.P., RyanL.M., WeinsteinR.S., WaymireK., NarisawaS., MillanJ.L., MacGregorG.R., WhyteM.P.Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia.J Bone Miner Res.1999; 14: 2015–2026.
7.
FosterB.L., NagatomoK.J., TsoH.W., TranA.B., NocitiF.H., NarisawaS., YadavM.C., McKeeM.D., MillanJ.L., SomermanM.J.Tooth root dentin mineralization defects in a mouse model of hypophosphatasia.J Bone Miner Res.2013; 28: 271–282.
GastonH.Ophthalmic complications of spina bifida and hydrocephalus.Eye (Lond).1991; 5(pt 3): 279–290.
10.
LiuJ., NamH.K., CampbellC., GasqueK.C., MillánJ.L., HatchN.E.Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia.Bone.2014; 67: 81–94.
NarisawaS., FröhlanderN., MillánJ.L.Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.Dev Dyn.1997; 208: 432–446.
14.
Nakamura-UtsunomiyaA., OkadaS., HaraK., MiyagawaS., TakedaK., FukuharaR., NakataY., HayashidaniM., TachikawaK., MichigamiT.. Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.Clin Pediatr Endocrinol.2010; 19(1): 7–13.
15.
OzonoK., MichigamiT.Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers.J Hum Genet.2011; 56: 174–176.
16.
RenierD., Sainte-RoseC., MarchacD., HirschJ.F.Intracranial pressure in craniostenosis.J Neurosurg.1982; 57: 370–377.