Characterizing congenital encephaloceles: epidemiological insights and clinical outcomes in a 12-year single-center...

Encephalocele is a rare but serious neural tube defect characterized by herniation of intracranial contents through a cranial defect. While large population-based studies exist, limited data describe the detailed clinical features and outcomes of encephaloceles in racially diverse U.S.

This study aimed to characterize anatomical subtypes, associated anomalies, surgical interventions, and early outcomes in a 12-year cohort from a tertiary care center in the southeastern U.S.

A retrospective review was conducted of pediatric patients diagnosed with congenital encephalocele between January 2012 and December 2023. Inclusion required confirmed diagnosis and evaluation by neurosurgery with or without plastic surgery involvement. Data were extracted from the electronic medical records and included demographics, birth history, sac morphology, imaging, surgical details, postoperative complications, and neurological outcomes. Statistical comparisons were made between deceased and surviving patients using appropriate parametric and non-parametric tests.

Seventeen patients met inclusion criteria. Most were female (70.6%) and Black / African American (70.6%). Posterior encephaloceles predominated (94.1%), with occipital location being most common. Brain parenchyma was present in 70.6% of sacs; ventricular or vascular structures were identified in 17.7% and 29.4%, respectively. Cardiac anomalies were present in 35.3% of patients, and 88.9% of those who underwent preoperative echocardiography had structural abnormalities. Twelve patients (70.6%) underwent surgical repair. Postoperative complications occurred in 58.3% of surgical patients, and three developed hydrocephalus post operatively requiring ventriculoperitoneal shunting. Birth weight was significantly lower in deceased patients compared to survivors (1.80 ± 0.42 kg vs. 2.76 ± 0.40 kg; p = 0.0077).

In this 12-year single-center series, encephaloceles were predominantly posterior and frequently contained nonfunctional brain tissue, with high rates of multisystem anomalies and postoperative complications. These observations highlight the complexity of early care and may contribute to surgical planning and counseling. Multi-institutional studies using standardized outcome measures are needed to define long-term trajectories and evaluate potential disparities in access and outcomes.