Chiari malformation associated with vitamin D-resistant rickets: case report

Area of Science:

• Neurology
• Pediatric Endocrinology
• Skeletal Dysplasias

Background:

• Craniocervical junction abnormalities present diversely, from congenital to degenerative causes.
• Vitamin D-resistant hypophosphatemic rickets is a rare condition with potential skeletal manifestations.
• Foramen magnum stenosis, Chiari I malformation, and syringomyelia are serious neurological conditions affecting the craniocervical junction.

Observation:

• A 12-year-old male with vitamin D-resistant rickets developed progressive upper extremity weakness and pain.
• MRI revealed significant foramen magnum stenosis, Chiari Type I malformation, and a large cervicothoracic syrinx (C2-T7).

Findings:

• Surgical decompression (suboccipital craniectomy, C1 laminectomy, duraplasty) reduced syrinx diameter postoperatively.
• Two years post-surgery, the syrinx significantly collapsed, though residual syrinx persisted (T2-T6).
• Neurological deficits, including pain and weakness, showed limited improvement despite syrinx reduction.

Implications:

• Vitamin D-resistant rickets can precipitate Chiari malformation and syringomyelia by affecting the skull base.
• Understanding this association is crucial for managing patients with rickets and craniocervical abnormalities.
• Further research into the link between metabolic bone disease and Chiari malformation is warranted.