Elevated Creatinine Kinase in a 6-Year-Old Boy

Paucisymptomatic or asymptomatic but persistently elevated serum creatine kinase is not an uncommon pediatric neurology referral question. The challenge is in promptly identifying etiologies with specific treatments, even if they are rare. The presenting features for a child or adolescent with juvenile-onset Pompe disease (JOPD) can be nonspecific and heterogeneous. Clinical manifestations can appear at any age after 2 years and before adulthood, with insidious onset of symptoms related to slowly progressive skeletal or respiratory muscle weakness.

Source: Seminars in Pediatric Neurology - April 1, 2017 Category: Neurology Authors: Eunice K. Chan, Andrew J. Kornberg Source Type: research