Fetal globoid cell leukodystrophy in one of twins

Twins with high-risk globoid cell leukodystrophy (GLD) at the 6th gestational month were studied morphologically and enzymatically. One of them was affected and the other was probably the carrier of this disease. Central nervous system and other viscera developed normally for the gestational age in both fetuses. The lesions of GLD were found in the fetus with marked deficiency of galactocerebrosidase, but not in the probable carrier. The lesions were located only in the considerably myelinated areas viz., the brain stem and the spinal cord. Ultrastructurally, the globoid cells in the fetal GLD seemed to originate from glial cells, probably oligodendroglia.