Abstract
The patient, a girl, was born prematurely at 37 weeks of gestation.
There was on family history of neuromuscular diseases. She had high-arched palate, ear deformity, and arachnodactyly. There was no spontaneous motor activity. No Moro or sucking reflex was present, and deep tendon reflexes were absent. She could not be weaned from the ventilator and died at five months of age.
Rectus femoris muscle biopsy was performed at the third month of age. The routine ATPase reaction differentiated two major fiber types. Type I fibers were smaller than type 2 fibers. In the diaphragm many rods were identified, which had a periodicity. An increase in the number of satellite cells, was demonstrated. A neuromuscular disease may be a cause of respiratory insufficiency in the neonatal period.
