RT Journal Article
SR Electronic
T1 Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
SP 1973
OP 1975
DO 10.3174/ajnr.A1215
VO 29
IS 10
A1 Vázquez, E.
A1 Macaya, A.
A1 Mayolas, N.
A1 Arévalo, S.
A1 Poca, M.A.
A1 Enríquez, G.
YR 2008
UL http://www.ajnr.org/content/29/10/1973.abstract
AB SUMMARY: 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.