Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation.

A one-year-old boy with type I H mucopolysaccharidosis (Hurler's disease) was given a bone-marrow transplant (BMT) from his mother in an attempt to replace the deficient enzyme, alpha-L-iduronidase (iduronidase). These is definite evidence of engraftment, the enzyme activity of the recipient's leucocytes reaching heterozygote levels within 37 days of the BMT. Graft-versus-host disease (GVHD) developed but was partially controlled by steroids.

Correct prenatal diagnosis of a Hurler fetus where amniotic fluid cell cultures were of maternal origin.

Contamination of amniotic fluid cell cultures by maternal cells can be expected to lead to misdiagnosis of fetal genotype in 0.1 to 0.5/100 cultures, when assays are carried out directly on cultured cells.