Spinal cord malformations’s epidemiology in French children: National cross sectional study based on medico-administrative database - 06/09/25

Doi : 10.1016/j.neuchi.2025.101713

C. Hervet ^a,^b,^c,^d,^e, C. Le Roux ^a,^b,^c,^d,^e, C. Gaborit ^a,^b,^c,^d,^e, J. Maheut-Lourmiere ^a,^b,^c,^d,^e, C. Fremont ^a,^b,^c,^d,^e, H. Lardy ^a,^b,^c,^d,^e, L. Grammatico-Guillon ^a,^b,^c,^d,^e,⁎ , T. Odent ^a,^b,^c,^d,^e
^a Department of Pediatric Orthopedic Surgery, Regional University Hospital Center of Tours, France
^b Regional Epidemiology Unit Centre-Val de Loire, Regional University Hospital Center of Tours, France
^c Reference Center for Rare Diseases, Chiari and Vertebral and Spinal Cord Malformations (C-MAVEM) of the Grand-Ouest, Referral Center of Tours, France
^d Clinical Data Centre, Department of Public Health and Prevention, Teaching Hospital of Tours, France
^e Department of Pediatric Visceral Surgery, Regional University Hospital Center of Tours, France

^⁎Corresponding author.

Sous presse. Manuscrit accepté. Disponible en ligne depuis le Saturday 06 September 2025
Cet article a été publié dans un numéro de la revue, cliquez ici pour y accéder

Highlights

•	This is the first national epidemiological study on rare spinal cord malformations in children in France.
•	Over 10,000 pediatric patients were identified using a validated algorithm based on ICD-10 codes from hospital discharge data (PMSI).
•	Spina Bifida and Arnold Chiari syndrome were the most prevalent conditions, diagnosed early in life.
•	The study highlights regional disparities and referral patterns, with significant flows toward Ile-de-France.
•	Medico-administrative databases are a powerful tool to improve surveillance and guide public health policies for rare pediatric diseases.

Le texte complet de cet article est disponible en PDF.

Abstract

Objective

Epidemiological data on rare spinal cord malformations in children are lacking in France. Using the national hospital discharge database (PMSI), we studied the care trajectories and estimated the morbidity and mortality burden of these conditions.

Study design

We conducted a nationwide historical cohort study from 2010 to 2020, including children diagnosed with rare spinal cord diseases within the scope of the C-MAVEM network. Cases were identified through ICD-10 codes using a semi-automated, multicenter-validated extraction algorithm (positive predictive value >80%). Incidence and in-hospital mortality rates were estimated for the following conditions: Spina Bifida (SB), Arnold Chiari syndrome (ACS), Syringomyelia and Syringobulbia (SM), Diastematomyelia (DM), and Hydromyelia (HM).

Results

A total of 10,114 children were identified, corresponding to an estimated prevalence of 67 per 100,000. Incidence rates per 100,000 live births were: 2.6 for SB, 2.2 for ACS, 1.0 for SM, 0.2 for DM, and 0.04 for HM. The mortality was 2.5%, 1.7%, 1.1%, 0.95%, no available for HM, respectively. Most patients were treated in university hospitals with considerable heterogeneity in surgical management depending on etiology and associated malformations.

Conclusion

This study provides, for the first time in France, national epidemiological estimates for rare pediatric spinal cord malformations. The use of a validated medico-administrative data extraction approach enables largescale surveillance of these rare conditions, improves understanding of their healthcare burden, and supports planning for specialized care and public health strategies.

Le texte complet de cet article est disponible en PDF.

Keywords : Spinal cord malformations, PMSI, C-MAVEM, Spina Bifida, Arnold Chiari malformation, Syringomyelia