Multisuture craniosynostosis and acquired Chiari malformation secondary to vitamin D deficiency rickets: illustrative case
TL;DR
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) is presented.
Abstract
BACKGROUND 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. OBSERVATIONS 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. LESSONS 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