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Article

Clinical phenotypes among patients with familial forms of Chiari malformation type 1.

Journal of neurosurgery. Pediatrics - 1 Jul 2025

Mekbib Kedous Y, Muñoz William, Allington Garrett, Zhao Shujuan, Mehta Neel H, Fortes Carla, Shohfi John P, Fan Baojian, Nelson-Williams Carol, DeSpenza Tyrone, Butler William E, Alper Seth L, Jackson Eric M, Kahle Kristopher T

Abstract excerpt

OBJECTIVE: Chiari malformation type 1 (CM1) is the most common neurological disorder of the craniocervical junction. CM1 is characterized by cerebellar tonsillar herniation below the foramen magnum, causing CSF obstruction and neural compression. Patients with CM1 suffer from highly variable symptoms, progression, comorbidities, and outcomes, partly due to poor understanding of CM1 pathogenesis. In this paper,...

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Identifiers

PMID: 40315599
DOI: 10.3171/2025.1.PEDS24187
PMCID: PMC12558010

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