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Corneal ulceration due to vitamin A deficiency in Zellweger syndrome
Jeffrey D Colburn1, Anna S Skelo, Sean P Donahue
1Vanderbilt University Medical Center, Nashville, Tennessee 37232, USA.
Insights
Vitamin A deficiency can cause corneal ulcers in infants, especially those with Zellweger syndrome. Early diagnosis and oral vitamin A supplementation can reverse corneal opacification in these cases.
Area of Science:
- Ophthalmology
- Pediatrics
- Genetics
Background:
- Zellweger syndrome is a rare peroxisomal disorder.
- Infants with Zellweger syndrome often present with failure to thrive and malnutrition.
- Corneal ulcers can be a serious complication in infants.
Observation:
- A 7-month-old infant with failure to thrive developed a corneal ulcer.
- Antibiotic eye drops did not improve the corneal ulcer.
- Vitamin A deficiency was suspected and subsequently confirmed.
Findings:
- Oral vitamin A supplementation led to decreased corneal opacification.
- Zellweger syndrome was diagnosed in the infant.
- This case highlights a link between Zellweger syndrome, vitamin A deficiency, and corneal ulcers.
Implications:
- Vitamin A deficiency should be considered in the differential diagnosis of nonhealing corneal ulcers in infants.
- Early identification and treatment of vitamin A deficiency are crucial in infants with failure to thrive and systemic syndromes.
- This case underscores the importance of nutritional assessment in pediatric patients with complex genetic disorders.
Abstract:
We report a case of vitamin A deficiency and secondary corneal ulcer in an infant with Zellweger syndrome. A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement. Vitamin A deficiency was suspected and confirmed. Supplementation with oral vitamin A decreased corneal opacification. Zellweger syndrome was later diagnosed. Vitamin A deficiency should be considered in the differential diagnosis of nonhealing corneal ulcers in children, especially those with systemic syndromes and failure to thrive.
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