title: Obstetric dilemma on the most appropriate management of Creutzfeldt-Jakob disease in pregnancy: seventh case presentation, literature review and new insight.
abstract: Prion diseases (PDs) are fatal neurological disorders that are thought to be caused by the accumulation of an altered variant of a benign, widely expressed protein (PrPC) into a distinct pathological conformation(s) (PrPSc). The PDs are so rare but lethal pathologies that need an early diagnosis to adequately support the infected patient. A maternal-fetal transmission during pregnancy has been supposed to be on the basis of animal studies, but till now the effective vertical transmission in humans has not been proved. We present a case of infected pregnant woman with a peculiar pregnancy course and outcome. We also provided a systematic literature review to find the best obstetrical management of women affected by prionic disease during pregnancy. The available data underline the potential risk of prenatal and postnatal transmission of the disease but do not permit to define the exact molecular mechanism of transmission, the best follow-up and recommendations that are useful in both obstetrical and neonatal practice. At present awaiting for further clarifications about this topic, it is mandatory to personalize the management of this rare pregnancy complication according to the maternal-fetal well-being status.
authors.affiliation: Department of Woman and Child Health and.
authors.forename: Stefania
authors.initials: S
authors.lastname: Di Gangi
authors.forename: Martina
authors.initials: M
authors.lastname: Bertin
authors.forename: Marco
authors.initials: M
authors.lastname: Noventa
authors.forename: Annachiara
authors.initials: A
authors.lastname: Cagnin
authors.forename: Erich
authors.initials: E
authors.lastname: Cosmi
authors.forename: Salvatore
authors.initials: S
authors.lastname: Gizzo
mesh_terms: D000293:Adolescent; D000328:Adult; D007562:Creutzfeldt-Jakob Syndrome / Q000628:therapy* / Q000635:transmission*; D005260:Female; D006801:Humans; D018445:Infectious Disease Transmission, Vertical; D011247:Pregnancy; D011251:Pregnancy Complications, Infectious; D055815:Young Adult
keywords: Creutzfeldt–Jakob disease; PrP protein; maternal-fetal transmission; neurodegenerative disease; pregnancy management; pregnancy outcome; prion disease