Giant encephalocele in newborns: prenatal diagnosis, management and outcome

A giant encephalocele associated with Chiari malformation is a rare congenital anomaly from a cephalad neural tube defect. Early prenatal diagnosis and parental counseling are essential; as early surgical intervention can improve outcomes.

Between 2010 and 2023, twenty-seven newborns out of 43,815 delivered at our institution were diagnosed with encephaloceles, including seven cases of giant encephalocele associated with Chiari malformation type III. These seven cases were included in the study, and their medical records were reviewed retrospectively to assess clinical, radiological, surgical, and postoperative follow-up data.

Seven newborns with giant occipital encephalocele and Chiari malformation type III were treated at our institution, including five females and two males. All cases were diagnosed prenatally via ultrasound, and none of the mothers had taken folic acid regularly. Six infants underwent surgical resection with duroplasty within 48 h, achieving good outcomes. The seventh infant, with respiratory difficulties, hypotonia, and large ventricular septal defect(VSD), was unfit for surgery and passed away at two weeks. Long-term follow-up up to 24 months showed all surviving infants met developmental milestones, though mild delays in walking, speech, and unsteady gait were noted.

Giant encephalocele with Chiari malformation is a rare condition that requires a multidisciplinary approach for effective management. Unlike smaller encephaloceles, giant ones may have a better prognosis due to the large volume of cerebrospinal fluid (CSF) in the herniated sac, which helps prevent further neural tissue herniation. Prenatal diagnosis is essential, and folic acid supplementation should be encouraged. Early surgical intervention is crucial for optimal outcomes.