Diagnosis of Muscular Dystrophy in a 6-Week-Old With Jaundice

    loading  Checking for direct PDF access through Ovid


Elevated serum aminotransferase activity in a child is a well-documented marker of possible muscle disease; therefore, muscular dystrophies must be considered in the assessment of all of the children with these lab abnormalities (1–3). Muscular dystrophies are inherited disorders of pathologic myofibril degeneration, and many of them are characterized by a markedly elevated serum creatinine kinase (CK) level. Our patient is unusual in that he was diagnosed as having muscular dystrophy in the evaluation of persistent unconjugated hyperbilirubinemia at just 6 weeks of age. To our knowledge, this is the earliest documented diagnosis made secondary to abnormal hepatic laboratory tests.

Related Topics

    loading  Loading Related Articles