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Case Reports
. 2023 Sep;53(10):2149-2153.
doi: 10.1007/s00247-023-05710-w. Epub 2023 Jul 17.

Fetal-onset Alexander disease with radiological-neuropathological correlation

Johannes Devos  1 , Koenraad Devriendt  2 , Jute Richter  3 , Katrien Jansen  4 , Marcella Baldewijns  5 , Dietmar R Thal  6 , Michael Aertsen  7
Affiliations
Case Reports

Fetal-onset Alexander disease with radiological-neuropathological correlation

Johannes Devos et al. Pediatr Radiol. 2023 Sep.

Abstract

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 complementary evaluation tool to neurosonography is shown for suspected cases of fetal-onset Alexander disease. Diffuse signal abnormalities of the periventricular white matter in association with thickening of the fornix and optic chiasm can point towards the diagnosis. Furthermore, the presence of atypical imaging findings such as microcephaly and cortical folding abnormalities in this case broadens our understanding of the phenotypic variability of Alexander disease.

Keywords: Alexander disease; Fetus; Glial fibrillary acidic protein; Gliosis; Magnetic resonance imaging.

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References

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