Considerations in Pediatric Proptosis | Ophthalmology | JN Learning | AMA Ed Hub [Skip to Content]
[Skip to Content Landing]

Considerations in Pediatric Proptosis

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

A 17-year-old African American boy was seen at our ophthalmology clinic with 3 weeks of a drooping left eyelid. He reported ptosis and marked proptosis of his left eye for 3 weeks before presentation. He denied any signs of diplopia, change in vision, or systemic symptoms, including difficulty breathing, swallowing, or articulating speech. Additional ocular history included refractive error and vision therapy to strengthen his left eye in childhood. His medical history was significant for obesity and a recent 45-kg intentional weight loss. Visual acuity on presentation was 20/20 OD and 20/30 OS with full-color vision plate testing in both eyes and no relative afferent pupillary defect. By Hertel exophthalmometry, he had 2 mm of left-sided proptosis and hypoglobus, with right-sided eyelid retraction (Figure, A). Margin-to-reflex distance 1 in the left eye was 1.0 mm, worsening to −2 mm on prolonged eyelid opening, with subjective fatigue. On extraocular muscle (EOM) testing, the patient exhibited −2 restriction in upgaze of the left eye, with double vision in supraduction. Slitlamp examination showed no significant anterior segment findings, and examination of the patient’s left optic nerve demonstrated no optociliary shunt vessels, edema, pallor, or hemorrhage. A computed tomography (CT) scan of the orbits was obtained (Figure, B), which showed enlargement of the left orbital fat compartments but no evidence of left orbital mass or EOM enlargement.

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.

Pediatric thyroid eye disease, with myasthenia gravis

B. Serologic workup

With unremarkable orbital imaging except for fat compartment enlargement in this patient, consideration of systemic etiologies for proptosis, ptosis, and EOM restriction were considered, and a thyroid panel was sent to the laboratory. Total thyroxine was high at 27.1 μg/dL (to convert to nanomoles per liter, multiply by 12.871), thyrotropin was low at 0.05 mIU/L, total triiodothyronine was elevated at 703 ng/dL (to convert to nanomoles per liter, multiply by 0.0154), and antibodies in a panel that included thyrotropin receptor, anti-TPO, and thyrotropin were all positive. With variability in his ptosis and documented fatigability, the patient began a trial of pyridostigmine bromide for presumed myasthenia gravis (MG), with interval resolution of his ptosis. A CT scan of the chest showed no evidence of thymoma, and acetylcholine receptor antibody testing (binding, blocking, and modulating) was negative. He was given a final diagnosis of Graves disease with type 1 lipogenic thyroid orbitopathy, as evidenced by fat compartment enlargement on CT, and concomitant seronegative myasthenia gravis.

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

Article Information

Corresponding Author: Lindsay Machen, MD, Illinois Eye and Ear Infirmary, The University of Illinois at Chicago, 1855 W Taylor St, Chicago, IL 60612 (lmache2@uic.edu).

Published Online: July 19, 2018. doi:10.1001/jamaophthalmol.2018.0169

Conflict of Interest Disclosures: Both authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest, and none were reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
Kankauskiene  J, Jarusaitiene  D.  Clinical ocular features in children and young adults with thyroid diseases.  J Thyroid Disord Ther. 2017;6(3):1-5.Google Scholar
2.
Gogakos  AI, Boboridis  K, Krassas  GE.  Pediatric aspects in Graves’ orbitopathy.  Pediatr Endocrinol Rev. 2010;7(2)(suppl 2):234-244.PubMedGoogle Scholar
3.
Dolman  PJ.  Evaluating Graves’ orbitopathy.  Best Pract Res Clin Endocrinol Metab. 2012;26(3):229-248.PubMedGoogle ScholarCrossref
4.
Chan  W, Wong  GW, Fan  DS, Cheng  AC, Lam  DS, Ng  JS.  Ophthalmopathy in childhood Graves’ disease.  Br J Ophthalmol. 2002;86(7):740-742.PubMedGoogle ScholarCrossref
5.
Sindhu  K, Downie  J, Ghabrial  R, Martin  F.  Aetiology of childhood proptosis.  J Paediatr Child Health. 1998;34(4):374-376.PubMedGoogle ScholarCrossref
6.
Altonbary  Y, Mansour  AK, Sarhan  M,  et al.  Proptosis is a pediatric dilemma.  Ann Pediatr Child Health. 2015;3(4):1-7.Google Scholar
7.
Cockerham  KP, Chan  SS.  Thyroid eye disease.  Neurol Clin. 2010;28(3):729-755.PubMedGoogle ScholarCrossref
8.
Nacu  A, Andersen  JB, Lisnic  V, Owe  JF, Gilhus  NE.  Complicating autoimmune diseases in myasthenia gravis: a review.  Autoimmunity. 2015;48(6):362-368.PubMedGoogle ScholarCrossref
9.
Chen  YL, Yeh  JH, Chiu  HC.  Clinical features of myasthenia gravis patients with autoimmune thyroid disease in Taiwan.  Acta Neurol Scand. 2013;127(3):170-174.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
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