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Special features of Graves' disease in early childhood
M Segni1, E Leonardi, B Mazzoncini
1Department of Pediatrics, University La Sapienza, Rome, Italy. m.segni@mclink.it
Insights
Graves' disease in young children can cause developmental delays and craniosynostosis. Early diagnosis and treatment are crucial to mitigate potential permanent brain damage in infants with hyperthyroidism.
Area of Science:
- Pediatrics
- Endocrinology
- Genetics
Background:
- Graves' disease (GD) is a rare autoimmune disorder causing hyperthyroidism.
- Infantile GD, particularly before age 4, is exceptionally uncommon but poses significant risks.
Observation:
- Three female patients under age 3 presented with GD symptoms including goiter, exophthalmos, tachycardia, and hyperactivity.
- One patient experienced severe psychomotor delay and craniosynostosis; two others had language delays.
Findings:
- All patients exhibited elevated thyroid hormones and thyrotropin receptor antibody (TRAb) levels, confirming autoimmune hyperthyroidism.
- Persistent high TRAb levels were noted during follow-up, necessitating ongoing methimazole treatment for over 32 months.
- Psychological evaluations revealed age-appropriate development in two patients, while the third showed improvement but persistent severe intellectual disability.
Implications:
- Early recognition and management of GD in infants are vital to prevent developmental interference.
- Pediatricians must consider the potential for permanent brain damage and craniosynostosis linked to infantile hyperthyroidism.
- Comprehensive assessment, including psychological evaluation, is essential for managing pediatric GD and its long-term effects.
Abstract:
Graves' disease (GD) is extremely rare in children younger than 4 years of age, but if not recognized and treated it can seriously interfere with growth and development. We report three unrelated children, all females, in whom GD occurred before the age of 3. These children presented with goiter, exophthalmos, tachycardia, and hyperactivity. Moreover, one showed a severe psychomotor delay, and had previously undergone surgery due to craniosynostosis; the other two manifested a language delay. All had high thyroid hormones and thyrotropin receptor antibody (TRAb) serum levels that clearly indicated autoimmune hyperthyroidism. In all of them, the disease presumably had developed during the first or second year of life. No maternal history of GD was present in two. The third child was born to a mother affected with GD during pregnancy, but it is likely that her GD began to develop after 6 months of life. These children are being treated with methimazole, and treatment is still necessary after 32 months. TRAb levels were persistently high at follow-up. Psychological evaluation including language development at follow-up was appropriate for age in two children; the third child improved, but severe mental retardation is still evident. GD assessment in early childhood also needs to focus on psychological evaluation. Pediatricians should be aware of the possibility of permanent brain damage and craniosynostosis due to hyperthyroidism in infancy.