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J Child Neurol. 2013 Apr 26;29(7):973-976. [Epub ahead of print]

Macro Creatine Kinase Type 1: A Cause of Spuriously Elevated Serum Creatine Kinase Associated With Leukoencephalopathy in a Child.

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  • Mayo Clinic, Rochester, MN, USA Bodensteiner.John@mayo.edu.


Macro creatine kinase type 1 is a complex formed by the creatine kinase isoenzyme BB and monoclonal IgG and occurs in about 1% of patients studied. First identified as a cause of spurious elevation of the total serum creatine kinase in patients suspected of myocardial infarction, the test has been largely replaced by the measurement of troponin levels. We present a child with delayed milestones and persistently elevated total serum creatine kinase measurements (∼1000-4000 IU) normal electromyogram and brisk myotatic reflexes. Creatine kinase isoenzymes and brain imaging showed the presence of macro creatine kinase type 1 and extensive signal abnormality of the cerebral white matter. Macro creatine kinase type 1 has been associated with several conditions though it has not been described in association with leukoencephalopathy or in patients this young. Macro creatine kinase type 1 can be a cause of elevated total creatine kinase in patients without primary muscle disease. The significance of the relationship of the macro creatine kinase to the leukoencephalopathy in this patient is unknown.

© The Author(s) 2013.


creatine kinase; leukoencephalopathy; macro creatine kinase type 1; myopathy

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