Work

Examining the Novel Nonsense Variant of the TANGO2 Gene in a Child With Rhabdomyolysis: Diagnostic Insights

Year: 2025

Type: article

Abstract: 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 TANGO2 mutations may be suspected when triggers are absent. Case Presentation: A 4-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 TANGO2 deficiency. Conclusions: Accurate enzyme measurement using dilution is critical in suspected rhabdomyolysis. Genetic causes, such as TANGO2 deficiency, should be considered when typical triggers are absent in pediatric cases.

Source: Journal of Pediatrics Review

DOI: 10.32598/jpr.13.2.1266.1

Authors: Zahra Pournasiri, Arefeh Zahmatkesh, Neda Ghorbani-khosroshahi, Mohammad Saberi

Institutions: Shahid Beheshti University of Medical Sciences, University of Tehran, Tehran University of Medical Sciences

Language: English

Topic: Muscle and Compartmental Disorders

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

Funder: Shahid Beheshti University of Medical Sciences