Do Not Forget the Spine MRI in Children With Arthrogryposis Multiplex Congenita: High Prevalence of Tethered Spinal Cord and Preliminary Clinical Findings Following Detethering.

BACKGROUND

Arthrogryposis multiplex congenita (AMC) encompasses congenital conditions with joint contractures in 2 or more joints. Patients with AMC may have scoliosis and neural axis malformations. The study aimed to determine the prevalence of tethered spinal cord (TSC), characterized by a low-lying conus medullaris, and secondarily, present preliminary findings following surgical untethering in children with AMC.

METHODS

Patients 18 years of age and younger with a diagnosis of AMC and a spine MRI were identified. The presence of a TSC was defined as a low-lying conus with termination at or below the lower third of the L2 vertebral body. A pediatric neurosurgeon and a pediatric orthopaedic surgeon independently reviewed MRIs. The medical records of patients with AMC who underwent untethering were examined to evaluate preoperative and postoperative clinical findings. The prevalence of TSC in our AMC patients was compared with published normative data using χ 2 analysis.

RESULTS

Forty-two of 105 AMC patients (40%) had TSCs. There was a greater percentage of patients with AMC and a TSC compared with the unaffected population ( P <0.0001). Sixteen patients underwent detethering through filum terminale sectioning. Nine patients had preoperative neurological deficits in addition to their AMC. There were no postoperative complications. All patients had improvement in their bowel and bladder symptoms within 3 months after their detethering procedure.

CONCLUSIONS

TSC is more prevalent in the pediatric population with AMC compared with those without AMC. MRI is recommended for all patients with AMC due to its high prevalence. Although not a benign procedure, surgical detethering may have potential benefits for children with AMC.

LEVEL OF EVIDENCE: Level IV-therapeutic study.