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Unusual onset of Graves’ disease associated with thymic hyperplasia in a 5-year-old girl with congenital bilateral clinical anophthalmia: diagnostic and therapeutic challenges

  • Rania Ben Rabeh ORCID logo EMAIL logo , Ahmed Bouzidi , Rim Hamdi , Nada Missaoui , Olfa Bouyahia , Sonia Mazigh and Samir Boukthir

Abstract

Objectives

Graves’ disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children.

Case presentation

This report presents the case of a 5-year-old girl with a personal history of asthma and congenital bilateral isolated clinical anophthalmia who presented with acute congestive heart failure, sinus tachycardia and atypical signs of orbitopathy with edema and erythema of the lower right eyelid and excessive tearing. The diagnosis of GD was based on detecting a suppression of serum TSH level and the presence of high titers of TRAbs. Relapse occurred after 10 months of antithyroid drugs with chief complaints of palpitations, dyspnea and dysphagia. Computed tomography showed heterogeneous anterior mediastinal mass with no invasion into the surrounding tissue. The marked shrinkage of the mass after radioiodine therapy supported the diagnosis of thymic hyperplasia associated with GD.

Conclusions

The presence of clinical anophthalmia may be a confusing factor for the diagnosis of Gravesʼ ophthalmopathy. Recognition of the association between GD and thymic hyperplasia would avoid invasive diagnostic procedures and unnecessary surgical resection. Radioiodine therapy may be used in young children with repeated relapses of GD.


Corresponding author: Rania Ben Rabeh, Faculty of Medicine of Tunis, University Tunis El Manar, 15 Rue Djebel Lakhdhar, La Rabta, 1007, Tunis, Tunisia; Pediatric Department C, Bechir Hamza Children’s Hospital Tunis, No. 167 Boulevard du 9-Avril 1938, 1006, Tunis, Tunisia; and Complete postal address: No. 14 Rue Hédi Nouira, 1001, Tunis, Tunisia, Phone: (+216) 52 85 70 24, E-mail:

  1. Research ethics: Not applicable.

  2. Informed consent: Written informed consent was obtained from parents of the child for publication of the details of his medical case and accompanying image.

  3. Author contributions: Rania Ben Rabeh: Management of the patient, Conception of the manuscript, wrote the main manuscript. Ahmed Bouzidi: wrote the draft of the paper. Rim Hamdi: Management of the patient. Nada Missaoui: Management of the patient. Olfa Bouyahia: Reviewed the manuscript. Sonia Mazigh: Reviewed the manuscript. Samir Boukthir: Approved the final submitted version of the manuscript.

  4. Competing interests: The authors state no conflict of interest.

  5. Research funding: None declared.

  6. Data availability: Not applicable.

References

1. Metwalley, KA, Farghaly, HS. Graves’ disease in children: an update. Clin Med Insights Endocrinol Diabetes 2023;16:117955142211506. https://doi.org/10.1177/11795514221150615.Search in Google Scholar PubMed PubMed Central

2. Léger, J. Graves’ disease in children. In: Szinnai, G, editor. Endocrine Development [Internet]. S. Karger AG; 2014:171–82 p. Available from: https://www.karger.com/Article/FullText/363163.10.1159/000363163Search in Google Scholar PubMed

3. Kawano, A, Kohno, H. Thymic hyperplasia associated with Gravesʼ disease in a 10-year-old boy. Clin Pediatr Endocrinol 2011;20:61–4. https://doi.org/10.1297/cpe.20.61.Search in Google Scholar PubMed PubMed Central

4. Witczak, JK, Ubaysekara, N, Ravindran, R, Rice, S, Yousef, Z, Premawardhana, LD. Significant cardiac disease complicating Graves’ disease in previously healthy young adults. Endocrinol Diabetes Metab Case Rep 2020;2020:1–6. https://doi.org/10.1530/EDM-19-0132.Search in Google Scholar PubMed PubMed Central

5. Vargas-Uricoechea, H, Bonelo-Perdomo, A, Sierra-Torres, CH. Effects of thyroid hormones on the heart. Clin Investig Arterioscler 2014;26:296–309. https://doi.org/10.1016/j.arteri.2014.07.003.Search in Google Scholar PubMed

6. Klein, I, Danzi, S. Thyroid disease and the heart. Curr Probl Cardiol 2016;41:65–92. https://doi.org/10.1016/j.cpcardiol.2015.04.002.Search in Google Scholar PubMed

7. Biondi, B. Mechanisms in endocrinology: heart failure and thyroid dysfunction. Eur J Endocrinol 2012;167:609–18. https://doi.org/10.1530/eje-12-0627.Search in Google Scholar

8. Araruna, LVM, Oliveira, DCD, Pereira, MC, Moura Neto, A, Tambascia, MA, Zantut-Wittmann, DE. Interplay between thyroid hormone status and pulmonary hypertension in Graves’ disease: relevance of the assessment in thyrotoxic and euthyroid patients. Front Endocrinol 2022;12:780397. https://doi.org/10.3389/fendo.2021.780397.Search in Google Scholar PubMed PubMed Central

9. Ionescu, IC, van Trotsenburg, PAS, Paridaens, D, Tanck, M, Mooij, CF, Cagienard, E, et al.. Pediatric Graves’ orbitopathy: a multicentre study. Acta Ophthalmol 2022;100:e1340-41. https://doi.org/10.1111/aos.15084.10.1111/aos.15084Search in Google Scholar PubMed

10. Burch, HB, Cooper, DS. Management of Graves disease: a review. JAMA 2015;314:2544. https://doi.org/10.1001/jama.2015.16535.Search in Google Scholar PubMed

11. Silva, E, Costa, FR, Ferrinho, C, Sousa, SF, Gouveia, C, Oliveira, M, et al.. Febrile neutropenia due to methimazole: a case report. Endocr Abstr 2021;75. https://doi.org/10.1530/endoabs.75.T12.Search in Google Scholar

12. Ohye, H, Minagawa, A, Noh, JY, Mukasa, K, Kunii, Y, Watanabe, N, et al.. Antithyroid drug treatment for Graves’ disease in children: a long-term retrospective study at a single institution. Thyroid 2014;24:200–7. https://doi.org/10.1089/thy.2012.0612.Search in Google Scholar PubMed

13. Wong, TWC, Wong, MYS. Remission in pediatric Graves’ disease treated with antithyroid drug and the risk factors associated with relapse. Ann Pediatr Endocrinol Metab 2022;27:308–14. https://doi.org/10.6065/apem.2244038.019.Search in Google Scholar PubMed PubMed Central

14. Gu, Y, Liang, X, Liu, M, Wu, D, Li, W, Cao, B, et al.. Clinical features and predictors of remission in children under the age of 7 years with Graves’ disease. Pediatr Investig 2020;4:198–203. https://doi.org/10.1002/ped4.12219.Search in Google Scholar PubMed PubMed Central

15. Tsukada, D, Iizuka, K, Takao, K, Liu, Y, Kubota, S, Okamoto-Kubota, S, et al.. Graves’ disease with thymic hyperplasia: the response of the thyroid function, thyrotropin receptor autoantibody, and thymic size to thiamazole treatment. Intern Med 2022;61:2753–7. https://doi.org/10.2169/internalmedicine.8710-21.Search in Google Scholar PubMed PubMed Central

Received: 2023-07-14
Accepted: 2023-12-04
Published Online: 2023-12-27
Published in Print: 2024-02-26

© 2023 Walter de Gruyter GmbH, Berlin/Boston

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