title: Chediak-Higashi syndrome in pregnancy.
abstract: We report the first known case of Chediak-Higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which influence a wide range of physiologic processes. Pregnancy did not seem to exert any influence on the course of the disease. The pregnancy, labor, and delivery were not affected and the infant and placenta were normal.
authors.affiliation: Department of Obstetrics and Gynecology, University of Pittsburgh School of Medicine, Magee-Womens Hospital, Pennsylvania.
authors.forename: F V
authors.initials: FV
authors.lastname: Price
authors.forename: R S
authors.initials: RS
authors.lastname: Legro
authors.forename: M
authors.initials: M
authors.lastname: Watt-Morse
authors.forename: S S
authors.initials: SS
authors.lastname: Kaplan
mesh_terms: D000328:Adult; D002609:Chediak-Higashi Syndrome / Q000175:diagnosis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis