Hydranencephaly: clinical features and survivorship in a retrospective cohort

Objectives: Hydranencephaly is a congenital central nervous system disorder characterized by the complete or near-complete absence of the cerebral cortex and basal ganglia. Due to its rarity, data on the clinical features and survivorship remain sparse. We aim to determine the clinical features and survivorship of a cohort of hydranencephaly patients.

Methods: We performed a retrospective cohort study of all patients diagnosed with hydranencephaly at our institution from 2008 to 2018. Data on demographics, clinical features, presence of co-morbidities, surgical operations performed, and status on last follow-up were collected. Survival curves were generated using Kaplan-Meier analysis.

Results: Fifty patients were included in the cohort, which had a median age at diagnosis of 4 months and a female predilection. The most common clinical manifestations were macrocephaly (92%) and seizures or myoclonic movements. Infection was present in 36% of cases, endocrinopathies in 22%, dysmorphisms in 20%, and cardiac disease in 8%. Twenty patients underwent shunt insertion, with half developing a post-operative complication at a mean follow-up of 14.9 months. The median survival of the cohort was not reached at 7.5 years. Among the patients with follow-up, characteristics were similar between the surgical and non-surgical groups, except for the greater incidence of infections in the non-surgical group. The survival curves between the groups were significantly different, with a hazard ratio of 3.731 in the non-surgical group.

Conclusion: In this large single center retrospective cohort of hydranencephaly patients, novel findings are presented regarding the clinical manifestations and survivorship of this condition.

Keywords: Hydranencephaly; shunt surgery; survivorship.