Germinolytic cysts and partial albinism in neonatal generalized glutathione synthetase deficiency

We report an 8-day-old black girl with generalized glutathione synthetase deficiency bilateral germinolytic cysts of the lateral ventricles and partial albinism. This is the first report of germinolytic cysts of the lateral ventricles and the second report of partial albinism in a patient with generalized glutathione synthetase deficiency. We suggest that generalized glutathione synthetase deficiency be considered in neonates with unexplained germinolytic cysts of the lateral ventricles and that the association of partial albinism and generalized glutathione synthetase deficiency is not casual. Generalized glutathione synthetase deficiency is a potentially fatal but treatable disorder that is suspected in the presence of high urine 5-oxoproline concentration and diagnosed by demonstrating glutathione synthetase deficiency in erythrocytes or cultured skin fibroblasts.