Occipital teratoma in a neonate with CHARGE syndrome: a case report

Teratomas of the head and neck region are rare lesions, representing just 5% of all congenital teratomas. Usually found in the pineal region orneurohypophysis, teratomas are uncommonly located in the posterior occiput.

Herein, we present a case of a female neonate born at 37-week gestation with hydrocephalus, an occipital scalp lesion, and several craniofacial abnormalities consistent with a diagnosis of coloboma, heart defect, atresia choanae, retarded growth, genital abnormality, and ear abnormality (CHARGE) syndrome. The occipital scalp lesion was initially thought to be an encephalocele. On day of life 3, the neonate was taken to the operating room for placement of a ventriculoperitoneal shunt and repair of the occipital lesion. Intra-operatively, the lesion resembled a dural-based meningocele; however, during histologic evaluation, it was found to contain tissue derived from all three germ layers and thus, it was determined to be more consistent with a teratoma.

We hypothesize that a germline mutation in CHD7 or other similar regulatory gene causative of CHARGE syndrome and craniofacial developmental abnormalities may have contributed to the unusual location of the teratoma in this case.