A Turkish girl is described who showed a severe floppy infant syndrome and respiratory
failure at birth. She suffered upper respiratory tract infections and pneumonia. She
was ventilated and had hypercapnoea secondary to bradypnoea. Biochemical analysis
of skeletal muscle revealed a slightly increased glycogen content, and enzymatic analysis
revealed a muscle phosphorylase-b-kinase deficiency. The infant succumbed after 140
days due to persistent apnoea and asystole. Isolated muscle phosphorylase-b-kinase
deficiency should be considered as a possible diagnosis in floppy infants.
Phosphorylase-b-kinase deficiency - Glycogenosis - Floppy infant