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A Retrospective Evaluation of Pediatric Patients with Symptomatic HyperCKemia

Pınar Özkan Kart1, Elif Acar Arslan2

  • 1Department of Pediatric Neurology, Trabzon Kanuni Training and Research Hospital, Health Science University, Trabzon, Türkiye.

Turkish Archives of Pediatrics
|April 27, 2026
PubMed

Insights

Elevated creatine kinase (CK) in children has varied causes beyond neuromuscular disorders (NMD). A comprehensive diagnostic approach is crucial for identifying the diverse origins of symptomatic hyperCKemia in pediatric patients.

Area of Science:

  • Pediatric Neurology
  • Clinical Biochemistry
  • Genetics

Background:

  • Elevated serum creatine kinase (CK), or hyperCKemia, is common in children with symptoms like muscle weakness.
  • While often linked to neuromuscular disorders (NMD), CK elevation can stem from non-neuromuscular causes including infections, trauma, and systemic illnesses.
  • Understanding the diverse etiologies of symptomatic hyperCKemia is critical for accurate diagnosis and management in pediatric care.

Purpose of the Study:

  • To investigate the underlying causes and clinical features of pediatric patients presenting with symptomatic hyperCKemia.
  • To differentiate between neuromuscular and non-neuromuscular origins of elevated CK levels in children.
  • To analyze the correlation between CK levels, patient demographics, and specific diagnoses.

Main Methods:

  • Retrospective cohort study of 1,688 pediatric patients with symptomatic hyperCKemia (CK > 200 U/L).
  • Patients categorized into NMD and non-NMD groups, stratified by CK severity (mild <2000 U/L, moderate to severe ≥2000 U/L).
  • Classification included acute sporadic, hereditary neurometabolic/genetic, hereditary neuromuscular, and non-hereditary/chronic cases.

Main Results:

  • The cohort (mean age 7.4 years) was predominantly male (72.8%).
  • Acute sporadic cases, mainly infections (17.5%) and trauma (14.7%), comprised the largest group (67.2%).
  • Neuromuscular disorder (NMD) diagnosis was confirmed in 7.5% of cases, increasing to 33.2% with severe hyperCKemia (≥2000 U/L).

Conclusions:

  • Symptomatic hyperCKemia in pediatric patients presents with a wide spectrum of causes.
  • Clinical correlation and a multidisciplinary approach are essential for diagnosing the diverse etiologies of elevated CK.
  • Distinguishing between NMD and non-NMD causes requires careful evaluation, especially in cases of severe hyperCKemia.
Abstract

Keywords:
Creatine kinasediagnostic algorithmneuromuscular disordersnon-neuromuscular causespediatric hyperCKemia

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