4-year-old: Elevated transaminases
C was born following an uneventful pregnancy, labor and delivery. She was not an extremely active child but achieved her developmental milestones within normal limits. At 4 years, she fell while playing and sustained a leg fracture that required surgery. In preparation for the surgery, routine blood work demonstrated elevated transaminases. Following surgery, the family began a long path of appointments to determine the cause of the increased liver enzymes, including numerous evaluations and a liver biopsy, which was normal.
Clinical Pearl: If transaminases (AST and ALT) are elevated, check CK. Since AST/ALT can come from muscle or the liver, while CK comes only from muscle, this test will help localize the child’s problem and may prevent unnecessary liver tests.
The family was then referred to a neurologist, who took a family history, did an exam, and ordered a CK test. The CK was 800 (normal <150 IU/l). Genetic testing revealed a mutation in the LMNA gene, confirming a diagnosis of LGMD 1B. Because of risk of cardiomyopathy, she had a baseline echocardiogram that was normal. The family was referred for genetic counseling.