Neuroophthalmological manifestations of congenital aqueductal stenosis

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  • 1 Department of Neurosurgery, New York University School of Medicine, New York, New York;
  • | 2 Departments of Neurological Surgery and
  • | 3 Ophthalmology, Children’s Hospital of Pittsburgh, and
  • | 4 Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania
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OBJECTIVE

Congenital aqueductal stenosis (CAS) is a common etiology of hydrocephalus that occurs in a subset of infants and may be linked to an increased incidence of ophthalmological abnormalities and delayed developmental milestones. Although hydrocephalus is common and widely studied, sparse literature exists on patients with isolated (no identifiable genetic link) CAS along with analysis of ophthalmological manifestations. In this study, the authors sought to describe the ophthalmological abnormalities and delayed developmental milestones of patients with isolated CAS.

METHODS

Data of patients with CAS were prospectively entered and monitored in a surgical database maintained by the Department of Neurological Surgery at Children’s Hospital of Pittsburgh from January 2005 to October 2016. Patients with a family history of congenital hydrocephalus, positive testing for genetic forms of aqueductal stenosis, other congenital abnormalities suggesting an underlying genetic syndrome, and stenosis/obstruction due to secondary causes were excluded from this study. Prenatal and perinatal history, CSF diversion history, and a variety of outcomes, including ophthalmological deficits and developmental milestones, were collected and analyzed.

RESULTS

A total of 41 patients with isolated CAS were identified, with a mean follow-up duration of 6 years. Among that cohort, 26 patients (63.4%) developed neuroophthalmological complications, which were further stratified. Fourteen patients (34.1%) developed strabismus and 11 (26.8%) developed astigmatism, and 1 patient (2.4%) with papilledema was recorded. Among patients with ophthalmological abnormalities, 76.9% had delayed developmental milestones (p = 0.045).

CONCLUSIONS

Patients with CAS were found to have increased risk of ophthalmological abnormalities requiring correction, along with an increased risk of delayed developmental milestones. Importantly, there was a significant correlation between the development of ophthalmological abnormalities and delayed developmental milestones that was independent of CSF diversion history. Larger patient cohort studies are required to explore whether earlier development of hydrocephalus, as is the case in CAS, causes elevated rates of neurological and ophthalmological complications, and if earlier CSF diversion correlates with improved outcomes.

ABBREVIATIONS

CAS = congenital aqueductal stenosis; ETV = endoscopic third ventriculostomy; IVH = intraventricular hemorrhage; OFC = occipitofrontal circumference.

Illustration from Seaman et al. (pp 260–267). Copyright Jane Whitney. Published with permission.

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Contributor Notes

Correspondence Hussam Abou-Al-Shaar: University of Pittsburgh Medical Center, Pittsburgh, PA. aboualshaarh@upmc.edu.

INCLUDE WHEN CITING Published online June 25, 2021; DOI: 10.3171/2021.2.PEDS20824.

Disclosures The authors report no conflict of interest concerning the materials or methods used in this study or the findings specified in this paper.

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