Persistent Hypertransaminasemia Uncovered Occult Limb-Girdle-Muscle Dystrophy-Type-2C in a Saudi Child

An asymptomatic 4.5 years-old Saudi girl was referred to the pediatric hepatology service with presumed liver disease because of the persistently elevated transaminases which were discovered accidently during routine laboratory workup. Alanine aminotransferase was 128 IU/L and aspartate aminotransferase was 143 IU/L. Subsequent investigations in the hepatology clinic revealed normal hepatic workup. Muscle related work up revealed increased creatine phosphokinase, abnormal electromyography and motor nerve conduction. Muscle biopsy was suggestive of early stage muscular dystrophy, and analyses were compatible with limb-girdle-muscle-disease Type 2C. Further confirmation was reached by molecular genetic testing. This case demonstrates that increased transaminases do not always suggest liver disease, and occult muscle disease should always be taken into account while investigating patients with unexplained persistent hypertransaminasemia.