Neonatal Alexander disease: MR imaging prenatal diagnosis.

[alexander disease]

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 .