CLINICAL HISTORY.—A 10-month-old girl was admitted to the Childrens Hospital of Los Angeles because of suspected glycogen storage disease. She had been well until 6 months of age at which time the mother noted the infant had a large abdomen. She was not jaundiced. The mother's pregnancy was uneventful and the family history noncontributory. The infant's development had been normal.
She was found to be icteric upon examination, as well as small and thin. The abdomen was protuberant and the extremities wasted. The liver was palpable to the iliac crest and was firm. No other organomegaly was detected.
Laboratory findings of interest follow: fasting blood glucose levels, 34, 28, and 36 mg/100 ml and glycosuria was evident in all specimens; the prothrombin level, very low but corrected to 100% with normal serum; prothrombin level with absorbed plasma, 30%, suggesting factor VII deficiency. The results of carbohydrate tolerance tests suggested
GWINN JL, BARNES GR. Radiological Case of the Month. Am J Dis Child. 1967;113(1):175–176. doi:10.1001/archpedi.1967.02090160225039
Pediatrics in JAMA: Read the Latest
Customize your JAMA Network experience by selecting one or more topics from the list below.