Pathological and biochemical studies of fetal Krabbe disease

Morphological and biochemical analysis of tissue from a 21-week-old fetus with Krabbe disease was performed. Galactosylceramidase activity was virtually absent in cultured amniotic cells obtained during the pregnancy of this fetus. The prenatal diagnosis was confirmed by enzymatic analysis of fetal cultured skin fibroblasts and by enzyme analysis of fetal brain, kidney and liver. The galactocerebroside content of brain and spinal cord of the affected fetus was essentially identical to that observed in an age-matched control fetus. Accumulation of galactosylsphingosine was found in all tissues examined from the fetus with Krabbe disease. The highest galactosylsphingosine level was detected in spinal cord of the affected fetus: it was 40 times the concentration observed in controls. The occurrence of inclusion bodies were limited to spinal cord of the fetus with Krabbe disease. These data verify that the pathological and biochemical findings of Krabbe disease are present during the second trimester of pregnancy.