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A 3-Month-Old Infant Who Otherwise Appeared Normal During the First

Question 2

Multiple Choice

A 3-month-old infant who otherwise appeared normal during the first 2 months of life except for a bout of hyperbilirubinemia is now clearly exhibiting developmental delay. In addition, the infant's hair has become grayish and dull and there is a stubble of broken hair over the occiput and temporal regions. The facial appearance has also changed such that the infant has very pudgy cheeks, abnormal eyebrows, and sagging jowls. The occurrence of frequent convulsions was the stimulus for the parents to bring their child to the emergency room. These rapidly deteriorating symptoms are indicative of which of the following disorders?


A) Crigler-Najjar syndrome type I
B) Gilbert syndrome
C) hemochromatosis
D) Menkes disease
E) Refsum disease

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