AJDRAJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 2008;29:1973.

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American Journal of Neuroradiology
DOI 10.3174/ajnr.A1215

PEDIATRICS

Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis

E. Vázquez, A. Macaya, N. Mayolas, S. Arévalo, M.A. Poca and G. Enríquez

From the Departments of Pediatric Radiology (E.V., N.M., G.E), Pediatric Neurology (A.M.), Fetal Medicine (S.A.), and Neurosurgery (M.A.P.), Área Materno-Infantil, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain.

Please address correspondence to Elida Vázquez, MD, Pediatric Radiology Department, Hospital Universitari Vall d'Hebron, Universidad Autónoma de Barcelona, Ps. Vall d'Hebron, 112–119, 08035, Barcelona, Spain; e-mail: evazquez{at}vhebron.net

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.






Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X