Elevated Creatine 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. This reported case highlights the importance of screening for JOPD in children with “hyper-CK-emia.” Dried blood spot measuring acid α-glucosidase enzyme activity is reliable, rapid, noninvasive, and inexpensive, allowing early diagnosis. Diagnosis of JOPD is important as enzyme replacement therapy with alglucosidase alpha, an intravenous recombinant α-glucosidase, is available, and early treatment improves muscle function, quality of life, and long-term survival.