Ependymoma in a 14-week fetus with occipital encephalocele: a case report.

Abstract

Objectives: Ependymomas are rare glial tumors arising from ependymal cells. Most fetal ependymomas reported in the literature are identified in the third trimester. This report describes prenatal detection of an occipital encephalocele at 14 weeks' gestation with subsequent post-termination histopathological identification of ependymoma.

Case presentation: A woman in her 20s (gravida 2, para 0) underwent routine ultrasonography at 14 weeks' gestation at a tertiary care hospital in India. Imaging showed a large occipital encephalocele with herniated disorganized brain parenchyma and associated fetal anomalies; no antenatal tumor diagnosis was made. After counseling regarding the severe cranial malformation, guarded prognosis, and management options, the parents elected medical termination of pregnancy. The fetus weighed 40 g. Histopathological examination showed monomorphic cells forming perivascular pseudorosettes and ependymal canal-like structures. Glial fibrillary acidic protein highlighted the perivascular processes; epithelial membrane antigen and S-100 were negative. The histomorphological features supported a histology-based diagnosis of ependymoma, CNS WHO grade 2. Molecular studies were not performed; therefore, molecular subgrouping was unavailable.

Conclusions: At 14 weeks' gestation, ultrasonography identified an occipital encephalocele, whereas ependymoma was identified only by post-termination histopathological examination. This case emphasizes early anatomical assessment, balanced parental counseling, and clinicopathological correlation while acknowledging uncertainty regarding the relationship between the encephalocele and the neoplasm.