AI Article Synopsis
- Wilson's disease is a rare genetic disorder that affects copper metabolism and can cause specific eye problems, including Kayser-Fleischer rings and cataracts.
- A 10-year-old girl diagnosed with Wilson's disease also showed signs of nevus of Ota, which is hyperpigmentation around the eye.
- This case is notable as it is the first documented instance of nevus of Ota occurring in a child with Wilson's disease, and the patient currently has good vision and no symptoms.
Article Abstract
Introduction: Wilson's disease is a rare autosomal recessive disorder that disrupts copper metabolism. It presents with distinctive ocular manifestations. Oculodermal melanosis, commonly referred to as nevus of Ota, is a painless condition characterized by hyperpigmentation in and around the eye. In this case report, we describe the unique occurrence of both conditions in this pediatric patient.
Case Presentation: A 10-year-old girl exhibited classic ocular signs associated with Wilson's disease, including Kayser-Fleischer rings and sunflower-type cataracts. Additionally, she displayed unilateral confluent gray-blue hyperpigmentation consistent with a nevus of Ota. As of now, the patient remains asymptomatic, with preserved visual acuity.
Conclusions: To the best of our knowledge, this case represents the first report of nevus of Ota in a child diagnosed with Wilson's disease.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521509 | PMC |
| http://dx.doi.org/10.1159/000541119 | DOI Listing |
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