TY - JOUR
T1 - Occipital teratoma in a neonate with CHARGE syndrome
T2 - a case report
AU - Anderson, Emily
AU - Heller, Robert S.
AU - Arkun, Knarik
AU - Winer, Jesse
N1 - Publisher Copyright:
© 2019, Springer-Verlag GmbH Germany, part of Springer Nature.
PY - 2020/3/1
Y1 - 2020/3/1
N2 - Introduction: 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. Case Presentation: 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. Conclusion: 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.
AB - Introduction: 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. Case Presentation: 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. Conclusion: 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.
KW - CHARGE syndrome
KW - Craniofacial development
KW - Germ cell tumor
KW - Teratoma
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U2 - 10.1007/s00381-019-04433-4
DO - 10.1007/s00381-019-04433-4
M3 - Article
C2 - 31797071
AN - SCOPUS:85076390678
SN - 0256-7040
VL - 36
SP - 661
EP - 664
JO - Child's Nervous System
JF - Child's Nervous System
IS - 3
ER -