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Published on: September 20, 2018

Rapid onset childhood cataracts leading to the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal

Ranjan Rajendram1, James A Deane, Martin Barnes

  • 1Department of Ophthalmology, Leicester Royal Infirmary, United Kingdom. RRajendram@DohenyEyeInstitute.org

American Journal of Ophthalmology
|November 5, 2003
PubMed

Insights

Bilateral cataracts in a child led to the diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). This rare condition requires careful metabolic management before surgical intervention.

Area of Science:

  • Pediatric Ophthalmology
  • Endocrinology
  • Genetics

Background:

  • Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autoimmune disorder.
  • It is characterized by a combination of endocrine deficiencies, chronic mucocutaneous candidiasis, and ectodermal abnormalities.

Observation:

  • A 12-year-old boy presented with symptoms including weakness, lethargy, short stature, and blurred vision.
  • He rapidly developed bilateral, dense cataracts over a two-week period.
  • Hypocalcemia was identified, leading to a diagnosis of hypoparathyroidism and APECED.

Findings:

  • The patient's hypoparathyroidism, adrenocortical failure, and insulin-dependent diabetes presented significant metabolic challenges.
  • Achieving metabolic control required nine months, delaying cataract surgery.

Implications:

  • This case highlights the importance of considering APECED in pediatric patients with hypocalcemic cataracts.
  • Early recognition and comprehensive management of associated endocrine disorders are crucial for successful treatment outcomes.
Abstract

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