A 6-year-old boy of nonconsanguineous parents presented with global developmental delay since infancy with history of 2 episodes of seizures in early childhood. Examination showed hyperactivity, subnormal cognition, tight heel… Click to show full abstract
A 6-year-old boy of nonconsanguineous parents presented with global developmental delay since infancy with history of 2 episodes of seizures in early childhood. Examination showed hyperactivity, subnormal cognition, tight heel cords, weakness of limbs along with hypotonia, and sluggish tendon reflexes. Serum creatine kinase was 2,138 IU/L.
               
Click one of the above tabs to view related content.