Orthopedic and neurosurgical care of X-linked hypophosphatemia

Federico Di Rocco; Anya Rothenbuhler; Catherine Adamsbaum; Justine Bacchetta; Zagorka Pejin; Georges Finidori; Stéphanie Pannier; Agnès Linglart; Philippe Wicart

doi:10.1016/j.arcped.2021.09.003

Orthopedic and neurosurgical care of X-linked hypophosphatemia

Arch Pediatr. 2021 Oct;28(7):599-605. doi: 10.1016/j.arcped.2021.09.003. Epub 2021 Oct 6.

Authors

Federico Di Rocco¹, Anya Rothenbuhler², Catherine Adamsbaum³, Justine Bacchetta⁴, Zagorka Pejin⁵, Georges Finidori⁵, Stéphanie Pannier⁶, Agnès Linglart⁷, Philippe Wicart⁸

Affiliations

¹ Department of Pediatric Neurosurgery, French Referral Center for Craniosynostosis, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Université de Lyon, 69677, Lyon, France; INSERM 1033, LYOS, Bone Disorders Prevention, 69008 Lyon, France. Electronic address: [email protected].
² AP-HP, Endocrinology and Diabetology for Children, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, Paris, France; AP-HP, Platform of Expertise for Rare Disorders Paris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France.
³ AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, Paris, France; Paris-Saclay University, AP-HP, Department of Pediatric Radiology, Bicêtre Paris Saclay Hospital, Le Kremlin-Bicêtre, France; AP-HP, Department of Pediatric Radiology, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France.
⁴ Reference Center for Rare Renal Disorders and Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, Department of Pediatric Nephrology, Rheumatology and Dermatology, Femme Mère Enfant Hospital, 69677 Bron Cedex, France.
⁵ AP-HP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France; ENSAM, Institute for Human Biomechanics Georges Charpak, Paris 13 University, Paris, France.
⁶ AP-HP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France; Université de Paris, Paris, 75006, France.
⁷ AP-HP, Endocrinology and Diabetology for Children, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, Paris, France; AP-HP, Platform of Expertise for Rare Disorders Paris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; INSERM U1185, Bicêtre Paris Sud Hospital, Le Kremlin Bicêtre, and Paris-Saclay University, France.
⁸ AP-HP, Endocrinology and Diabetology for Children, Bicêtre Paris Sud Hospital, Le Kremlin-Bicêtre, France; AP-HP, Reference Center for Rare Disorders of Calcium and Phosphate Metabolism, filière OSCAR, Paris, France; AP-HP, Department of Pediatric Orthopedic Surgery, Necker Hospital, Paris, France. Electronic address: [email protected].

PMID: 34625380
DOI: 10.1016/j.arcped.2021.09.003

Abstract

X-linked hypophosphatemia (XLH) is due to mutations in the PHEX gene leading to unregulated production of FGF23 and uncontrollable hypophosphatemia. XLH is characterized in children by rickets, short stature, waddling gait, and leg bowing of variable morphology and severity. Phosphate supplements and oral vitamin D analogs partially or, in some cases, fully restore the limb straightness. XLH patients may also be affected by premature, complete, or partial ossification of sutures between cranial bone, which could eventually result in cranial dysmorphia, decreased intracranial volume, and secondary abnormally high intracranial pressure with a cerebral compression. Our goal is to address the criteria and the management of the skeletal complications associated with XLH, mainly orthopedic and neurosurgical care, and reflect on decision-making and follow-up complexities.

Keywords: Chiari syndrome; Craniosynostosis; Genu valgum; Genu varum; Hypophosphatemia; Osteotomy; Rickets; Syringomyelia.

MeSH terms

Familial Hypophosphatemic Rickets / surgery*
Fibroblast Growth Factor-23
Humans
Neurosurgical Procedures / methods*
Neurosurgical Procedures / trends
Orthopedic Procedures / methods*
Orthopedic Procedures / trends
Skull / abnormalities
Skull / physiopathology
Skull / surgery