PATHOLOGICAL AND BIOCHEMICAL-STUDIES OF FETAL KRABBE DISEASE

Morphological and biochemical analysis of tissue from a 21-week-old fe tus with Krabbe disease was performed. Galactosylceramidase activity w as virtually absent in cultured amniotic cells obtained during the pre gnancy of this fetus. The prenatal diagnosis was confirmed by enzymati c analysis of fetal cultured skin fibroblasts and by enzyme analysis o f fetal brain, kidney and liver. The galactocerebroside content of bra in and spinal cord of the affected fetus was essentially identical to that observed in an age-matched control fetus. Accumulation of galacto sylsphingosine was found in all tissues examined from the fetus with K rabbe 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 tha t the pathological and biochemical findings of Krabbe disease are pres ent during the second trimester of pregnancy.