Examining the Novel Nonsense Variant of the TANGO۲ Gene in a Child With Rhabdomyolysis: Diagnostic Insights

Background: Rhabdomyolysis is characterized by the breakdown of muscle fibers, with serum creatine phosphokinase (CPK) serving as the key diagnostic marker. In pediatric cases, it is often linked to viral infections or trauma, but genetic causes like TANGO۲ mutations may be suspected when triggers are absent. Case Presentation: A ۴-year-old boy presented with cola-colored urine, muscle cramps, diarrhea, and nausea. Laboratory tests showed blood (++), no red blood cells, elevated liver enzymes, and slightly elevated CPK levels. Suspected rhabdomyolysis was confirmed using the dilution method for CPK measurement. After excluding common causes, whole genome sequencing revealed TANGO۲ deficiency. Conclusions: Accurate enzyme measurement using dilution is critical in suspected rhabdomyolysis. Genetic causes, such as TANGO۲ deficiency, should be considered when typical triggers are absent in pediatric cases.

کلیدواژه ها:

TANGO۲ deficiency ، Rhabdomyolysis ، Creatine phosphokinase