Clinical Outcomes of Isolated Congenital Aqueductal Stenosis

Hydrocephalus due to congenital aqueductal stenosis (CAS) has significant long-term clinical implications. Previous reports on outcomes after treatment of congenital hydrocephalus are heterogenous and lack specificity for the subgroup of patients with isolated aqueductal stenosis.

An institutional surgical database was queried for the time period of 2005-2013 for patients with the diagnosis of isolated CAS and >2 years of clinical follow-up. Medical history and neurodevelopmental outcomes were recorded.

The institutional cohort consisted of 41 patients with isolated CAS who underwent cerebrospinal fluid diversion. At a mean follow-up of 5.9 years, 48.8% carried a diagnosis of epilepsy and 68% were developmentally delayed. Four patients were diagnosed with cerebral palsy (9.8%). In total, 78% of patients were shunt-dependent, and the remainder had patent third ventriculostomies. Only 32% of patients in our cohort were neurologically normal after long-term follow-up despite contemporary management.

Regardless of the initial treatment strategy, the age at diagnosis, or the timing of cerebrospinal fluid diversion after birth, patients with aqueductal stenosis have high rates of epilepsy, neurodevelopmental delay, and educational difficulties, and few are neurologically normal despite contemporary management. Investigation into in utero identification and correction of hydrocephalus may result in improved outcomes and warrants further investigation.