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Published on: January 7, 2019
Management and Outcomes in Isolated Congenital Aqueductal Stenosis: A Single-Center Retrospective Cohort Study
Enaja V Sambatur1, Shohra Qaderi1, Matheus D Soldatelli2,3
1Division of Maternal-Fetal Medicine and Surgery, Fetal Care and Surgery Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Insights
Isolated congenital aqueductal stenosis (ICAS) often shows progressive prenatal ventriculomegaly, leading to hydrocephalus requiring treatment and neurodevelopmental challenges in most affected children.
Area of Science:
- Pediatric Neurology
- Neuroimaging
- Congenital Disorders
Background:
- Isolated congenital aqueductal stenosis (ICAS) is a rare condition.
- Understanding its prenatal progression and long-term outcomes is crucial for management.
Purpose of the Study:
- To investigate prenatal imaging characteristics, clinical course, and outcomes of isolated congenital aqueductal stenosis (ICAS).
Main Methods:
- Retrospective study (2010-2023) of patients with postnatal ICAS confirmation and prenatal imaging.
- Exclusion of cases with additional anomalies.
- Standardized imaging measurements and neurodevelopmental outcome verification.
Main Results:
- Twenty-one patients with ICAS diagnosed prenatally.
- Significant prenatal ventriculomegaly (FOHR > 0.5) observed in most cases.
- Progressive increase in ventricular size from prenatal to postnatal imaging.
- 95.2% required hydrocephalus treatment (shunting or ETV/CPC), with many needing multiple procedures.
- High rates of epilepsy and global developmental delay/special education needs.
Conclusions:
- ICAS is associated with progressive prenatal ventricular enlargement.
- Most children with ICAS require surgical intervention for hydrocephalus.
- Significant neurodevelopmental impairments are common following ICAS.
Objective:
Our objective was to investigate prenatal imaging findings, clinical course and outcomes associated with isolated congenital aqueductal stenosis (ICAS).
Method:
A retrospective study was conducted in the period of 2010-2023, including patients with ICAS confirmed postnatally who were imaged prenatally with ≥ 1 year of follow-up. Patients with additional anomalies (structural or genetic) were excluded. Neurodevelopmental outcomes were verified by pediatricians, and imaging underwent standardized measurement by a neuroradiologist.
Results:
Twenty-one patients were prenatally diagnosed with ICAS, at a median gestational age (GA) of 19.7 weeks. Overall, 13/14 patients exhibited a fronto-occipital horn ratio (FOHR) > 0.5, indicating clinically significant ventriculomegaly in initial MRI at 18-32 weeks GA. There was an increase in the median size of the third ventricular coronal width from 7 mm in prenatal imaging to 12 mm in postnatal imaging (p = 0.01). Twenty patients (95.2%) required shunting or endoscopic third ventriculostomy and bilateral choroid plexus cauterization (ETV/CPC), with 10 undergoing multiple CSF diversion procedures during follow-up. Among the study group, nine patients experienced epilepsy, 6/8 aged < 5 years exhibited global developmental delay, and 6/12 aged ≥ 5 years required special education services.
Conclusion:
Our findings indicate a progressive increase in prenatal ventricular sizes, with most children requiring hydrocephalus treatment and experiencing neurodevelopmental impairment.
