Prenatal diagnosis of cranio-orbito-maxillary neuroblastoma: a case report

Congenital neuroblastoma is one of the most common solid tumors in the perinatal period; however, primary cranial localization with prenatal onset is extremely rare. We present a unique case of cranio-orbito-maxillary congenital neuroblastoma detected during the early second trimester, highlighting its dynamic prenatal evolution, diagnostic challenges, and postnatal clinical course.

A 36-year-old pregnant woman was referred at 15 weeks of gestation with a suspected fetal cranial cyst. Fetal neurosonography revealed a unilocular, avascular cystic lesion near the midline of the left cerebral hemisphere, initially suggestive of an arachnoid cyst. Serial follow-up demonstrated progressive morphological transformation, with the lesion acquiring heterogeneous solid components and extending toward the retroorbital and maxillary regions. Fetal magnetic resonance imaging confirmed a large solid-cystic retroorbital mass with orbital displacement and extension into adjacent structures. The pregnancy was complicated by polyhydramnios in the third trimester. A female infant was delivered at 36 weeks of gestation and exhibited marked postnatal proptosis. Histopathological and immunohistochemical evaluation of a tru-cut biopsy established the diagnosis of grade 4 neuroblastoma. Despite multidisciplinary management and multimodal chemotherapy, the disease progressed with pulmonary metastases, and the infant died at 15 months of age during palliative care.

This case illustrates an exceptionally rare presentation of congenital neuroblastoma originating as a prenatal cranial cystic lesion with progressive cranio-orbito-maxillary involvement. Neuroblastoma should be considered in the differential diagnosis of atypical fetal cranial or orbital masses. Careful prenatal surveillance, advanced imaging, and multidisciplinary perinatal planning are crucial for optimal postnatal management and family counselling.