A 3-month-old female presents with intention tremors, dystonia, greenish-yellow rings in the cornea, and hepatomegaly.Tests reveal a defect on chromosome 13.Which of the following is the most likely diagnosis?

Question

Quizplus · Accepted Answer

The symptoms and chromosome defect described are characteristic of Wilson disease, which involves copper accumulation and is associated with a defect on chromosome 13. The greenish-yellow rings in the cornea are known as Kayser-Fleischer rings, a hallmark of Wilson disease.

A 3-Month-Old Female Presents with Intention Tremors, Dystonia, Greenish-Yellow Rings