Surgical Indications in Hypophosphataemic Rickets.

Low levels of phosphate in blood secondary to a lack of phosphorous reabsorption in the renal tubule cause hypophosphataemic rickets. To increase blood calcium levels, bone calcium is released into the bloodstream by increasing the activity of osteoclasts in the bones. These alterations in bone metabolism lead to delayed growth and small height, diffuse bone pain, bone fragility with microfractures, and frequent fractures and bone deformities. Although management of some of these conditions is mainly conservative, in cases of bone deformities or severe osteomalacia surgery should be considered: from minimally invasive surgical techniques of guided growth in patients with less deformity and open physeal cartilage to correction osteotomies in three-dimensional deformities. This article briefly reviews the indications for surgery procedures to be performed in these patients, highlighting when to use aggressive and non-aggressive approaches.

Hypophosphatemic rickets and craniosynostosis: a multicenter case series.

OBJECTIVE This study examines a series of patients with hypophosphatemic rickets and craniosynostosis to characterize the clinical course and associated craniofacial anomalies. METHODS A 20-year retrospective review identified patients with hypophosphatemic rickets and secondary craniosynostosis at 3 major craniofacial centers. Parameters examined included sex, age at diagnosis of head shape anomaly, affected sutures, etiology of rickets, presenting symptoms, number and type of surgical interventions, and associated diagnoses. A review of the literature was performed to optimize treatment recommendations. RESULTS Ten patients were identified (8 males, 2 females). Age at presentation ranged from 1 to 9 years. The most commonly affected suture was the sagittal (6/10 patients). Etiologies included antacid-induced rickets, autosomal dominant hypophosphatemic rickets, and X-linked hypophosphatemic (XLH) rickets. Nine patients had undergone at least 1 cranial vault remodeling (CVR) surgery. Three patients underwent subsequent surgeries in later years. Four patients underwent formal intracranial pressure (ICP) monitoring, 3 of which revealed elevated ICP. Three patients were diagnosed with a Chiari Type I malformation. CONCLUSIONS Secondary craniosynostosis develops postnatally due to metabolic or mechanical factors. The most common metabolic cause is hypophosphatemic rickets, which has a variety of etiologies. Head shape changes occur later and with a more heterogeneous presentation compared with that of primary craniosynostosis. CVR may be required to prevent or relieve elevated ICP and abnormalities of the cranial vault. Children with hypophosphatemic rickets who develop head shape abnormalities should be promptly referred to a craniofacial specialist.