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Incidence of idiopathic syrinx in pediatric patients diagnosed with VACTERL association
Insights
Idiopathic syrinxes are significantly more common in children with VACTERL association than in the general population. This study found a 2.2% incidence in VACTERL patients, which is 200-400 times higher than typical rates.
Area of Science:
- Pediatric Neurology
- Developmental Biology
- Medical Genetics
Background:
- The VACTERL association is a complex condition involving multiple congenital anomalies.
- Syrinx formation is known to occur with tethered spinal cord, a common finding in VACTERL association.
- The incidence of idiopathic syrinxes in VACTERL patients has not been previously reported.
Purpose of the Study:
- To determine the incidence of syrinxes in pediatric patients with VACTERL association.
- To characterize the pattern of congenital anomalies in this cohort.
- To specifically identify and quantify idiopathic syrinxes within the VACTERL population.
Main Methods:
- Retrospective analysis of an institutional database of pediatric VACTERL association patients.
- Assessment for the presence of syrinxes and associated spinal cord lesions.
- Classification of syrinxes as idiopathic if no attributable lesion was identified.
Main Results:
- 186 pediatric patients with VACTERL association were identified.
- A tethered spinal cord was present in 75.8% and a syrinx in 23.7% of patients.
- Four cases (9.1% of syrinxes, 2.2% of patients) were classified as idiopathic, suggesting a significantly elevated incidence.
Conclusions:
- Idiopathic syrinxes may be 200-400 times more prevalent in pediatric VACTERL association patients compared to the general population.
- The incidence of idiopathic syrinxes in this cohort is estimated at 2.2% (2200 per 100,000).
- Conservative management was effective for most identified syrinxes, with stable or decreased size on follow-up.
Objective:
While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods:
An institutional database was retrospectively queried for all pediatric patients with VACTERL association. Patients were assessed for the presence of a syrinx. Those with no accompanying lesion to which the syrinx could be ascribed were designated idiopathic. Descriptive statistics and qualitative analyses characterized the clinical presentation and outcomes of this population.
Results:
The authors retrospectively identified 186 patients between 1993 and 2023 with VACTERL association. Of these 186 patients, 141 (75.8%) had a tethered spinal cord and 44 (23.7%) had a syrinx. Most syrinxes could be ascribed to the presence of a tethered spinal cord and/or Chiari malformation; however, 4 (9.1%) of the 44 appeared idiopathic, suggesting the incidence of idiopathic syrinxes in this patient population may be as high as 2.2% (4/186). Most patients remained asymptomatic aside from a single patient who presented with mild gait dysfunction that resolved over time. All syrinxes were managed conservatively, and all but one decreased or remained stable in size on follow-up imaging.
Conclusions:
Although limited, current estimates suggest the general incidence of an idiopathic syrinx is between 5.6 and 8.4 per 100,000 people; these findings in a pediatric cohort with VACTERL association suggest an incidence of 2200 per 100,000 (i.e., 2.2%). Thus, an idiopathic syrinx may be 200-400 times as prevalent in the pediatric VACTERL population.
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