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AJNR - American Journal of Neuroradiology

Published ahead of print on July 24, 2008
doi: 10.3174/ajnr.A1215

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American Journal of Neuroradiology 29:1973-1975, November-December 2008
© 2008 American Society of Neuroradiology

Case Report
PEDIATRICS

Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis

E. Vázquez^a, A. Macaya^b, N. Mayolas^a, S. Arévalo^c, M.A. Poca^d and G. Enríquez^a

^a Department of Pediatric Radiology, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
^b Department of Pediatric Neurology, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
^c Department of Fetal Medicine, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
^d Department of Neurosurgery, 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.