title: Neonatal Alexander disease: MR imaging prenatal diagnosis.
abstract: Alexander disease (AD) is a rare neurodegenerative disorder characterized by megalencephaly, leukoencephalopathy, and Rosenthal fibers within astrocytes. This report describes the case of a female patient with sonography-detected ventriculomegaly at 32 weeks' gestation and distinctive MR imaging features at 33 and 36 weeks' gestation, at birth, and at 2 months of age, which led to the suggested diagnosis of Alexander disease. Molecular analysis confirmed a missense mutation in the GFAP gene. The literature contains little information on the fetal MR imaging findings that may allow prenatal diagnosis of AD.
authors.affiliation: Department of Pediatric Radiology, Area Materno-Infantil, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain. evazquez@vhebron.net
authors.forename: E
authors.initials: E
authors.lastname: Vázquez
authors.forename: A
authors.initials: A
authors.lastname: Macaya
authors.forename: N
authors.initials: N
authors.lastname: Mayolas
authors.forename: S
authors.initials: S
authors.lastname: Arévalo
authors.forename: M A
authors.initials: MA
authors.lastname: Poca
authors.forename: G
authors.initials: G
authors.lastname: Enríquez
mesh_terms: D038261:Alexander Disease / Q000151:congenital* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*