Postnatal Pancraniosynostosis in a Patient with Infantile Hypophosphatasia

Abstract

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.

Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia

“…4 Surgical treatment of craniosynostosis with strip craniectomies and open vault remodeling in HPP patients has been previously reported in those with milder forms of the infantile and childhood subtypes displaying signs of increased ICP, whereas those with the perinatal lethal form often did not survive to surgery. [5][6][7] More recently, asfotase alfa (Strensiq, Alexion Pharmaceuticals), a bone-targeted recombinant tissue-nonspecific alkaline phosphatase ectodomain fusion protein, has been demonstrated to be effective as an enzyme replacement therapy in children with perinatal lethal or severe infantile HPP. 8,9 Subcutaneous treatment of these patients with Strensiq has allowed for bone mineralization and good survival and function after 7 years.…”

“…Increased ICP has been previously reported to occur in half of patients afflicted with the HPP 4 . Surgical treatment of craniosynostosis with strip craniectomies and open vault remodeling in HPP patients has been previously reported in those with milder forms of the infantile and childhood subtypes displaying signs of increased ICP, whereas those with the perinatal lethal form often did not survive to surgery 5–7 …”