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; Ahmed Bouzidi; Rim Hamdi; Nada Missaoui; Olfa Bouyahia; Sonia Mazigh; Samir Boukthir

doi:10.1515/jpem-2023-0331

Article

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 , Ahmed Bouzidi , Rim Hamdi , Nada Missaoui , Olfa Bouyahia , Sonia Mazigh and Samir Boukthir

Published/Copyright: December 27, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 37 Issue 2

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.

Keywords: Graves’ disease; children; heart failure; thymic hyperplasia; orbitopathy

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: rania.benrabeh@fmt.utm.tn

Research ethics: Not applicable.
Informed consent: Written informed consent was obtained from parents of the child for publication of the details of his medical case and accompanying image.
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.
Competing interests: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2023-07-14

Accepted: 2023-12-04

Published Online: 2023-12-27

Published in Print: 2024-02-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0331

Keywords for this article

Graves’ disease; children; heart failure; thymic hyperplasia; orbitopathy