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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
PubMed

Insights

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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