Professor of Pediatrics and Neurology Cincinnati Childrens Hospital Medical Center Cincin, Ohio, United States
Background: Congenital aqueductal stenosis (CAS) refers to obstruction of the cerebral aqueduct. Incidence is about 1:1000 births and carries an overall mortality of 40%. Neurodevelopmental complications include motor and cognitive delays or deficits, feeding difficulties, and epilepsy. Normal development is present in about 10% of children. CAS is increasingly diagnosed using fetal MRI and providers are tasked with discussing outcome with expectant families. CAS can occur as an isolated condition or as part of a syndrome. In severe cases, CAS can also be accompanied by ventricular rupture. Relationship between these types of CAS and outcome is not clear. Objective: Assess neurodevelopmental outcomes in patients with prenatally identified CAS with and without ventricular rupture to improve counseling for patients and families. Design/Methods: This was an IRB-approved, retrospective-cohort study of 140 CAS patients who underwent fetal MRI (87 with postnatal imaging) at Cincinnati Children’s Hospital between 2003 and 2023. Patients were grouped according to etiology and ventricular rupture status. Patients were classified as “syndromic CAS” if there were coexisting brain or systemic anomalies or genetic syndrome. Otherwise, they were classified as “isolated CAS.” Patient records were analyzed for short- and long-term outcome metrics. Results: Of 140 patients with fetal imaging, 24 died in the fetal or immediate neonatal period, and 14 pregnancies were terminated. 86 and 64 patients were available to analyze short- and long-term outcomes, respectively. The mean age was 7.45 years (range: [1.03, 19.32]) for long-term outcomes. Ventricular rupture was associated with an increased risk of early respiratory support (OR: 7.38, p=0.015). Poor motor outcomes were correlated with syndromic CAS with a statistically significant difference (p < 0.001) in GMFCS; 65.9% of syndromic CAS required assistance with ambulation vs 6.7% of those with isolated CAS. Risk for future epilepsy (OR:4.80, p=0.02), early feeding assistance (OR:4.15, p=0.017), late feeding assistance (OR: 5.56, p=0.034), and CSF diversion (OR:3.69, p=0.049) were also significantly increased with syndromic CAS compared to isolated CAS.
Conclusion(s): These findings challenge the conventional counseling that ventricular rupture is a reliable predictor of poor prognosis. Instead, distinguishing syndromic from isolated CAS is more fruitful for personalizing treatment and counseling.
