Neonatal Alexander disease: MR imaging prenatal diagnosis.
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.
Vázquez
E
E
Department of Pediatric Radiology, Area Materno-Infantil, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain. evazquez@vhebron.net
Macaya
A
A
Mayolas
N
N
Arévalo
S
S
Poca
M A
MA
Enríquez
G
G
D038261:Alexander Disease / Q000151:congenital* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*