| Article Access Statistics|
| Viewed||1413 |
| Printed||29 |
| Emailed||0 |
| PDF Downloaded||15 |
| Comments ||[Add] |
Click on image for details.
|Year : 2017 | Volume
| Issue : 4 | Page : 274
Malignant orbital teratoma in a neonate: A clinicopathological case report
Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq
|Date of Web Publication||11-Oct-2017|
M D Al-Mendalawi
Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Al-Mendalawi M D. Malignant orbital teratoma in a neonate: A clinicopathological case report. J Postgrad Med 2017;63:274
I read with interest the case report by Prakash et al. on the malignant orbital teratoma (OT) in a 1-day-old neonate. The authors have nicely described the clinical presentation, successful surgical management, and the outcome of the neonate. It is known that OT could be an isolated lesion or part of a generalized disorder. Among generalized disorders, Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome needs a particular consideration. This syndrome is an autosomal dominant disorder caused by mutations in the PTCH1 gene. It is characterized by various major and minor developmental abnormalities as well as increasing propensity to have various neoplasms, particularly intracranial medulloblastoma and astrocytoma. It shows a high level of penetrance and variable expressivity. It is diagnosed by the genetic study demonstrating a mutation in the PTCH1 gene localized to chromosome 9. A case series of GGS published in Indian literature which compared its findings with other studies in the world has suggested that there is a disparity in different ethnic groups and a wide variation in presentation of the syndrome within the same population. Although Prakash et al. did a systemic examination that did not reveal anomalies, this does not totally exclude the presence of these anomalies, particularly minor ones, as the baby was 1 day old and time is needed for the complete evolution of these anomalies. Moreover, the authors mentioned that the computed tomography (CT) scan or magnetic resonance imaging of the head was not done as the ultrasound showed that the tumor was localized to the orbit. This raises the potential risk of undiagnosed hidden intracranial neoplasms. I presume that the authors needed to include GGS in the differential diagnosis in their studied infant, and hence, the arrangement for the mutation analysis for PTCH1 gene was solicited. If that analysis was done and it revealed GGS, the case in question could be considered a novel case report from two aspects. On the one side, it would be considered as the second case report of neonatal GGS in the literature as the first one was reported more than a decade ago. On the other hand, it would be regarded as the second case report of neonatal GGS-associated malignant OT in the literature as the first case was reported in a boy.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| :: References|| |
Prakash MV, Indira R, Radhakrishnan M, Leela G. Malignant orbital teratoma in a neonate: A clinicopathological case report. J Postgrad Med 2017;63:203-5.
] [Full text]
Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review. Pediatr Int 2014;56:667-74.
Lata J, Verma N, Kaur A. Gorlin-Goltz syndrome: A case series of 5 patients in North Indian population with comparative analysis of literature. Contemp Clin Dent 2015;6(Suppli 1):S192-201.
García-Oguiza A, Miralbés-Terraza S, Calvo-Martín M, Labarta-Aizpun J, López-Pisón J, Marco-Tello A, et al.
Neonatal Gorlin syndrome associated to hemimegalencephaly confirmed by genetic study. Rev Neurol 2006;43:251-2.
Rodrigues AL, Carvalho A, Cabral R, Carneiro V, Gilardi P, Duarte CP, et al.
Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation. Genet Mol Res 2014;13:5654-63.