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PT  - JOURNAL ARTICLE
AU  - Vázquez, E.
AU  - Macaya, A.
AU  - Mayolas, N.
AU  - Arévalo, S.
AU  - Poca, M.A.
AU  - Enríquez, G.
TI  - Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis
AID  - 10.3174/ajnr.A1215
DP  - 2008 Nov 01
TA  - American Journal of Neuroradiology
PG  - 1973--1975
VI  - 29
IP  - 10
4099  - http://www.ajnr.org/content/29/10/1973.short
4100  - http://www.ajnr.org/content/29/10/1973.full
SO  - Am. J. Neuroradiol.2008 Nov 01; 29
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.