Newborn With Unilateral Exophthalmos and Rapidly Growing Parotid Mass | Neonatology | JN Learning | AMA Ed Hub [Skip to Content]
[Skip to Content Landing]

Newborn With Unilateral Exophthalmos and Rapidly Growing Parotid Mass

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A male newborn was noted to have right eye and right cheek masses at birth. His prenatal course was complicated by maternal drug use, hepatitis C, and lack of routine prenatal care. Intraocular pressure of the right eye was elevated to 31 mm Hg (normal pressure, <20 mm Hg). Parotid ultrasonography demonstrated a lobulated solid vascular mass measuring 2.1 cm. The infant was referred to the ophthalmology and otolaryngology service. At the age of 5 weeks, a swollen right eye with a foggy cornea and conjunctival vascular anomaly were noted. A soft, mobile, right parotid mass had doubled in size.

Please finish quiz first before checking answer.

You answered correctly!

Read the answer below and download your certificate.

You answered incorrectly.

Read the discussion below and retake the quiz.

C. Atypical teratoid/rhabdoid tumor

The presentation is consistent with atypical teratoid/rhabdoid tumor (AT/RT). Further characterization of the parotid biopsy specimen showed large undifferentiated cells with a high nuclear to cytoplasmic ratio and nuclear molding. Staining for protein gene product 9.5 and vimentin was positive, with faint positivity for neuroectodermal tumor markers and complete loss of INI-1 (Figure 2). Genetic sequencing demonstrated a SMARCB1/INI-1 (GenBank AP000349.1) sequence variation.

This case is unique, as AT/RT more commonly presents as a central nervous system (CNS) malignancy and rarely as an infratentorial or spinal lesion.1 Moreover, the infant presented with 2 masses that were either metastatic disease or 2 synchronous tumors at birth. Rhabdoid tumors are also known to occur synchronously in 2 or more locations in patients with germline SMARCB1 alteration.2 AT/RT can be misdiagnosed owing to staining features that are indistinguishable from those of other neuroectodermal tumors.

Survey Complete!

Sign in to take quiz and track your certificates

Buy This Activity

JN Learning™ is the home for CME and MOC from the JAMA Network. Search by specialty or US state and earn AMA PRA Category 1 CME Credit™ from articles, audio, Clinical Challenges and more. Learn more about CME/MOC

CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.

Article Information

Corresponding Author: Aaron Thatcher, MD, Department of Otolaryngology-Head & Neck Surgery, University of Michigan, 1540 E Hospital Dr, SPC 4241, Ann Arbor, MI 48109 (aarlthat@med.umich.edu).

Published Online: October 29, 2020. doi:10.1001/jamaoto.2020.3763

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s parent for granting permission to publish this information. We thank Hakan Dimirci, MD (W.K. Kellogg Eye Center), Rama Rao, MBBS (Division of Pediatric Hematology and Oncology), and John Kim, MD (Department of Radiology) (all at Michigan Medicine, University of Michigan), for their input on the case and their attentive care for this patient. They were not financially compensated.

References
1.
Babgi  M , Samkari  A , Al-Mehdar  A , Abdullah  S .  Atypical teratoid/rhabdoid tumor of the spinal cord in a child.   Pediatr Neurosurg. 2018;53(4):254-262. doi:10.1159/000488459 PubMedGoogle ScholarCrossref
2.
Frühwald  MC , Biegel  JA , Bourdeaut  F , Roberts  CWM , Chi  SN .  Atypical teratoid/rhabdoid tumors.   Neuro Oncol. 2016;18(6):764-778. doi:10.1093/neuonc/nov264Google ScholarCrossref
3.
Singh  L , Kashyap  S .  Update on pathology of retinoblastoma.   Int J Ophthalmol. 2018;11(12):2011-2016. doi:10.18240/ijo.2018.12.22PubMedGoogle Scholar
4.
Dasgupta  R , Fuchs  J , Rodeberg  D .  Rhabdomyosarcoma.   Semin Pediatr Surg. 2016;25(5):276-283. doi:10.1053/j.sempedsurg.2016.09.011 PubMedGoogle ScholarCrossref
5.
Saunders  T , Margo  CE .  Intraocular medulloepithelioma.   Arch Pathol Lab Med. 2012;136(2):212-216. doi:10.5858/arpa.2010-0669-RS PubMedGoogle ScholarCrossref
6.
Nesvick  CL , Nageswara Rao  AA , Raghunathan  A , Biegel  JA , Daniels  DJ .  Case-based review: atypical teratoid/rhabdoid tumor.   Neurooncol Pract. 2019;6(3):163-178. doi:10.1093/nop/npy037PubMedGoogle Scholar
7.
Lian  H , Daniels  C , Han  Y-P ,  et al.  Incidence of metastatic disease and survival among patients with newly diagnosed primary CNS tumors in the United States from 2004-2013.   J Cancer. 2019;10(13):3037-3045. doi:10.7150/jca.30624 PubMedGoogle ScholarCrossref
8.
Chi  SN , Zimmerman  MA , Yao  X ,  et al.  Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor.   J Clin Oncol. 2009;27(3):385-389. doi:10.1200/JCO.2008.18.7724 PubMedGoogle ScholarCrossref
9.
Hilden  JM , Meerbaum  S , Burger  P ,  et al.  Central nervous system atypical teratoid/rhabdoid tumor.   J Clin Oncol. 2004;22(14):2877-2884. doi:10.1200/JCO.2004.07.073Google ScholarCrossref
10.
Ostrom  QT , Chen  Y , M de Blank  P ,  et al.  The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010.   Neuro Oncol. 2014;16(10):1392-1399. doi:10.1093/neuonc/nou090 PubMedGoogle ScholarCrossref
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_Multimedia_LoginSubscribe_Purchase
Close
If you are not a JN Learning subscriber, you can either:
Subscribe to JN Learning for one year
Buy this activity
jn-learning_Modal_Multimedia_LoginSubscribe_Purchase
Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close

Name Your Search

Save Search
Close
With a personal account, you can:
  • Track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
jn-learning_Modal_SaveSearch_NoAccess_Purchase
Close

Lookup An Activity

or

Close

My Saved Searches

You currently have no searches saved.

Close

My Saved Courses

You currently have no courses saved.

Close
With a personal account, you can:
  • Access free activities and track your credits
  • Personalize content alerts
  • Customize your interests
  • Fully personalize your learning experience
Education Center Collection Sign In Modal Right
Close