A Retrospective Evaluation of Pediatric Patients with Symptomatic HyperCKemia

Elevated serum creatine kinase (CK) levels, or hyperCKemia, are frequently observed in pediatric patients with muscle weakness, fatigue, or gait abnormalities. Although often associated with neuromuscular disorders (NMD), CK elevation may also result from non-neuromuscular causes such as infection, trauma, exercise, or systemic illness. This study aimed to investigate the underlying causes and clinical features of pediatric patients referred with symptomatic CK elevation.

In this retrospective cohort study, 1,688 pediatric patients with symptomatic hyperCKemia (CK>200 U/L) were analyzed. Patients were categorized into NMD and non-NMD groups and stratified by CK severity: mild (<2000 U/L) and moderate to severe (≥2000 U/L). Symptomatic cases were further classified as acute sporadic, hereditary neurometabolic/genetic, hereditary neuromuscular, or non-hereditary/chronic cases.

The cohort included 27.2% female and 72.8% male, with a mean age of 7.4 years. The mean CK level was 1615.1 ± 5390.7 U/L (range: 201-121480), with moderate-to-severe hyperCKemia in 12.7%. CK showed a weak positive correlation with age (r=0.146, P < .001) and was significantly higher in male (P = .020). Acute sporadic cases constituted 67.2% (n=1134), predominantly infections (17.5%) and trauma (14.7%). Hereditary neurometabolic/genetic cases accounted for 2.4% (n=41), hereditary neuromuscular for 5.4% (n=91), and non-hereditary/chronic cases for 25.0% (n=422). Detailed NMD was detected in 7.5%, with significantly higher CK, and NMD diagnosis rose to 33.2% at CK ≥2000 U/L.

This study demonstrates that symptomatic hyperCKemia in pediatric patients has diverse etiologies and emphasizes the importance of clinical correlation and a multidisciplinary diagnostic approach.