Hydrocephalus in encephalocele

Encephalocele is a rare congenital neural tube defect (NTD) characterized by herniation of intracranial contents through a defect in the skull. In our study, encephalocele was diagnosed in our clinic and its association with hydrocephalus was evaluated. The effect of this association on the prognosis was discussed.

Patients who underwent surgery and follow-up with the diagnosis of encephalocele in the neurosurgery clinic of our hospital in an 8-year period from 2013 to 2021 were retrospectively examined.

Patient records were obtained from the case notes of patients who underwent excision and repair for encephalocele. Of the 78 patients included in the study, 88.4% underwent surgery in the neonatal period. Moreover, 47% of the patients are male, and 31% are female. Encephalocele was present in 62.8% of patients and meningocele in 37.2%. Furthermore, 82.1% of encephalocele sacs were located in the occipital region. Chiari type 3 malformation was present in 57.6% of patients. Hydrocephalus developed in 56.4% of patients. There was an additional syndrome in 10.3% of the cases. The most common additional syndromes were corpus callosum dysgenesis with 39.7% and colpocephaly with 29.5%. The additional disease was present in 43.6% of patients. Preoperative and postoperative examination findings of more than half of patients were normal, but 33.3% were apathetic. Furthermore, 67.9% of patients, who underwent complete repair, survived, and 32.1% died. Hydrocephalus was present in 73.5% of patients with encephalocele (p<0.05). Hydrocephalus developed in 77.8% of patients with Chiari type 3 malformation (p<0.05). Hydrocephalus was found in 88.0% of patients with Ex (p<0.05).

Encephalocele, which is a subgroup of NTD, differs clinically by its location and accompanying additional anomalies. In encephaloceles, the risk of morbidity and mortality can only be reduced with the multidisciplinary approach. Hydrocephalus and Chiari type 3 malformation are common in patients with encephalocele. These associations adversely affect the prognosis of the disease. Further research should be conducted on the evaluation of risk factors of NTD and methods of prevention from NTD. In this regard, we recommend that the training be repeated at certain intervals and that people's awareness should be raised.