Authors
Andrew Linkugel, Sacha C Hauc, Gregory Pearson, Albert Isaacs, Jonathan Pindrik
Published in
Journal of neurosurgery. Case lessons. Volume 12. Issue 4. Jul 27, 2026. Epub Jul 27, 2026.
Abstract
While frequently sporadic or genetic in etiology, craniosynostosis may occur secondarily due to underlying defects in bone mineralization. X-linked hypophosphatemia represents a common genetic cause of rickets, with sequelae including craniosynostosis and Chiari malformation type I (CM-I). In contrast, severe nutritional vitamin D deficiency-induced rickets represents a rare cause of acquired or postnatal craniosynostosis and CM-I, with few cases reported in the published literature.
The authors present the case of a 2-year-old boy with a history of severe vitamin D deficiency rickets who presented with multisuture craniosynostosis, acquired CM-I, and clinical symptoms and signs of increased intracranial pressure (ICP). His headaches and papilledema resolved with cranial vault expansion and bone-only posterior fossa decompression. By the time of his presentation with craniosynostosis, his vitamin D deficiency had been treated and resolved for about 1 year.
Secondary or postnatal craniosynostosis often does not present with characteristic head shape changes but may be associated with elevated ICP and acquired CM-I, which may require surgical intervention. Late presentation or diagnosis of craniosynostosis in young children without typical features should prompt investigation for underlying disorders of bone metabolism. https://thejns.org/doi/10.3171/CASE26200.
PMID:
42508058
Bibliographic data and abstract were imported from PubMed on 28 Jul 2026.
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