- Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan
- Department of Pediatrics, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan
- Department of Clinical Oncology and Neuro-oncology Program, Graduate School of Biomedical Science, Hiroshima University, 1-2-3 Minami-ku, Hiroshima, 734-8551, Japan
- Department of Molecular and Cellular Pathology, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan
Department of Neurosurgery, Graduate School of Medical and Dental Sciences, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan
DOI:10.4103/2152-7806.100198Copyright: © 2012 Bakhtiar Y. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
How to cite this article: Bakhtiar Y, Yonezawa H, Bohara M, Hanaya R, Okamoto Y, Sugiyama K, Yoshioka T, Arita K. Posterior fossa immature teratoma in an infant with trisomy 21: A case report and review of the literature. Surg Neurol Int 27-Aug-2012;3:100
How to cite this URL: Bakhtiar Y, Yonezawa H, Bohara M, Hanaya R, Okamoto Y, Sugiyama K, Yoshioka T, Arita K. Posterior fossa immature teratoma in an infant with trisomy 21: A case report and review of the literature. Surg Neurol Int 27-Aug-2012;3:100. Available from: http://sni.wpengine.com/surgicalint_articles/posterior-fossa-immature-teratoma-in-an-infant-with-trisomy-21-a-case-report-and-review-of-the-literature/
Background:Intracranial teratoma associated with Down syndrome is rare. With only three previously reported cases, our case is the first one presenting an immature component.
Case Description:A 2-month-old boy with trisomy 21 presented with lethargy and head enlargement. A magnetic resonance imaging (MRI) study showed an obstructive hydrocephalus with 0.5 cm posterior fossa tumor compressing the cerebellum. The tumor revealed a mixed intensity on T1- and T2-weighted MRI images and was surrounded by peritumoral cysts. It was heterogeneously enhancing and showed multinodular mass. The tumor was gross totally removed via suboccipital craniotomy and histologically diagnosed as immature teratoma. Four cycles of chemotherapy consisting of cisplatin and etoposide followed the surgery. The radiotherapy was withheld due to infancy. Recurrent lesions in the tumor bed were noted 10 months later. They were removed in the second surgery and histologically identified as mature teratoma.
Conclusion:Maturation of immature teratoma may be a result of natural conversion of multipotent embryonal cells into mature tissues and following chemotherapy.
Keywords: Down syndrome, immature teratoma, maturation, posterior fossa tumor
Teratomas, neoplasms which are composed of tissues derived from three germ cell layers, constitute approximately 0.2% of all intracranial tumors.[
A 2-month-old boy with known Down syndrome (trisomy 21) was referred to our department with presentation of rapid head enlargement. He was born as a full-term baby to a 30-year-old mother by normal delivery without perinatal complications.
On examination, the boy was lethargic and found to have variable waveforms of nystagmus (congenital nystagmus). The head circumference was 39 cm with bulging of the anterior fontanel. Computed tomography (CT) [
Preoperative computed tomography (CT) (a) showed a large tumor with inhomogeneous density compressing cerebellum. Hydrocephalus was present with periventricular lucency. It is also inhomogeneous and multiloculated on T1-weighted (b) and T2-weighted (c) magnetic resonance images (MRIs). Gadolinium enhanced MRI (d-f) showed heterogeneous enhancement effect
Midline suboccipital craniotomy exposed a highly vascularized tumor with variable consistency; cystic, solid, and elastic hard. Gross total removal was achieved in a piecemeal fashion. The tumor capsule was easily detached from the cerebellar hemisphere, but not from the cerebellar vermis. An intact pineal gland was seen in the supracerebellar cistern after tumor removal. Postoperative MRI showed the total removal of the tumor [Figure
Histopathologically, the tumor was composed of incompletely differentiated components resembling fetal tissues. The most immature elements were primitive embryonal mesenchymal tissue or neuroectodermal tissue with canalicular structure resembling a developing neural tube or neuroepithelial rosettes [
Histological patterns showed canalicullar structure resembling a developing neural tube or neuroephitelial rosettes (a). These patterns showed positive reaction with α-fetoprotein (AFP) immunostaining (B). Neuroepithelial rosettes react positively with β-tubulin 3 (c), and MAP2 (d). GFAP immunostaining was negative (e). The MIB 1 index was approximately 10% (f). (a) H and E, ×100; (b–f) ×100 (original magnification). Barr showed 100 μm
Four cycles of chemotherapy with regimens comprised of cisplatin and etoposide followed the surgery. The AFP serum level decreased to 2.74 × 104 UI/L after chemotherapy. In addition, it had dropped to 1.25 × 104 UI/L when two recurrent lesions were detected in the cerebellar vermis and tentorium on MRI [Figure
Teratomas represents 0.2% of all intracranial tumors[
The midline part of brain is a location frequently harboring misplacements of embryonal tissues.[
In infancy and early childhood, 45% of brain tumors arise in infratentorial space,[
We generally treat immature teratoma with carboplatin–etoposide combination chemotherapy followed by radiation according to the protocol for intracranial germ cell tumors proposed by The Japanese Pediatric Brain Tumor Study Group.[
Maturation of immature teratoma may be a result of natural conversion of multipotent embryonal cells into mature tissues as seen in fetal development. In the case of extracranial immature teratomas, most of recurrent lesions after the chemotherapy showed features of maturation, whereas the majority that did not receive chemotherapy had recurrent lesions with initial immature features.[
We reported a rare immature teratoma in an infant with Down syndrome which has been controlled with two surgeries and cisplatin-based chemotherapy at a 4-year follow-up. The biomechanism of the maturation process of intracranial immature teratoma cases have yet to be elucidated. Although a persistently normal AFP serum level and proof of histologic maturation on the second look surgery may serve as predictors of good outcome, regular MRI follow-up including the spinal column would be mandatory for the early detection of the development of any recurrent disease.
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