GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.

Alexander disease is a rare form of leukodystrophy caused by heterozygous mutations in the gene encoding glial fibrillary acidic protein (GFAP). Brain cavitation in the white matter, predominantly distributed in the frontal periventricular area, has been described in some cases. Here, we present a case of a 1-year-old boy with neonatal Alexander disease caused by the p. Tyr366Cys GFAP variant, with rapid and widespread white matter cavitation. This case broadens the radiological spectrum of Alexander disease and suggests a possible genotype-phenotype correlation between the p. Tyr366Cys variant and cavitation.