Article
Fetal-onset Alexander disease with radiological-neuropathological correlation.
Pediatric radiology - 1 Sept 2023
Devos Johannes, Devriendt Koenraad, Richter Jute, Jansen Katrien, Baldewijns Marcella, Thal Dietmar R, Aertsen Michael
Abstract excerpt
Alexander disease is a leukodystrophy caused by mutations in the GFAP gene, primarily affecting the astrocytes. This report describes the prenatal and post-mortem neuroimaging findings in a case of genetically confirmed, fetal-onset Alexander disease with pathological correlation after termination of pregnancy. The additional value of fetal brain magnetic resonance imaging in the third trimester as a...
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