Occult Muscle Disease Should be Considered In Children With Unexplained Persistent Hypertransaminasemia

An asymptomatic 4.5 years old Saudi female child was referred to the Pediatric Hepatology and Gastro-enterology clinic of Al Hada Armed Forces Hospital, KSA with presumed liver disease because of persistently elevated transaminases which were discovered accidently during routine laboratory workup. Alanine aminotransferase (ALT) was 128 IU/L and aspartate aminotransferase (AST) was 143 IU/L. Subsequent investigation in the hepatology clinic revealed normal hepatic workup. Muscle related workup revealed increased Creatine Phosphokinase (CPK), abnormal EMG and motor nerve conduction. Muscle biopsy was suggestive of early stage of muscular dystrophy and immunochemical analyses were compatible with limb-girdle-muscle-disease type 2C. Further confirmation by molecular genetic testing was done. Ultimately limb-girdle-muscle-dystrophy-2C was confirmed with the characteristics of specific abnormalities in muscle biopsy. 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.