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Corneal rupture in a child with Down syndrome and hyperthyroidism
Sasha Howard1, Joseph Raine, Mehul Dattani
1Royal London Hospital, Royal London Hospital, London, E1 1BB, UK.
BMJ Case Reports
|June 21, 2011
Summary
This report details a rare pediatric case of Down syndrome (trisomy 21) and hyperthyroidism that led to severe corneal hydrops and perforation due to keratoconus. This highlights a unique combination of conditions in a young patient.
Area of Science:
- Ophthalmology
- Genetics
- Endocrinology
Background:
- Trisomy 21 is associated with an increased risk of keratoconus and thyroid disease.
- Hyperthyroidism in children with trisomy 21 can manifest with exophthalmos.
- Severe corneal complications like hydrops and perforation are rare in this population.
Purpose of the Study:
- To report a unique pediatric case of trisomy 21 with hyperthyroidism.
- To describe the development of severe acute hydrops and corneal perforation.
- To investigate the secondary cause of keratoconus in this context.
Main Methods:
- Clinical case presentation and review of patient's medical history.
- Ophthalmological examination to assess corneal status.
- Endocrinological evaluation for hyperthyroidism management.
Main Results:
- A child with trisomy 21 and hyperthyroidism presented with severe acute hydrops.
- Corneal perforation occurred secondary to underlying keratoconus.
- The combination of these conditions in a pediatric patient is exceptionally rare.
Conclusions:
- This case underscores the complex interplay between genetic conditions, endocrine disorders, and ophthalmic complications.
- Early recognition and management of keratoconus and hyperthyroidism are crucial in children with trisomy 21.
- Further research may elucidate the specific mechanisms linking these conditions.
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