INFANTILE MUSCLE PHOSPHORYLASE-B-KINASE DEFICIENCY - A CASE-REPORT

A Turkish girl is described who showed a severe floppy infant syndrome and respiratory failure at birth. She suffered upper respiratory trac t infections and pneumonia. She was ventilated and had hypercapnoea se condary to bradypnoea. Biochemical analysis of skeletal muscle reveale d a slightly increased glycogen content, and enzymatic analysis reveal ed a muscle phosphorylase-b-kinase deficiency. The infant succumbed af ter 140 days due to persistent apnoea and asystole. Isolated muscle ph osphorylase-b-kinase deficiency should be considered as a possible dia gnosis in floppy infants.