胶质纤维酸性蛋白（GFAP）变体p.Tyr366Cys在新生儿亚历山大病中表现出广泛的脑空洞形成。
GFAP variant p. Tyr366Cys demonstrated widespread brain cavitation in neonatal Alexander disease.
作者信息
Takeuchi Hirokazu, Higurashi Norimichi, Kawame Hiroshi, Kaname Tadashi, Yanagi Kumiko, Nonaka Yuichiro, Hirotsu Tatsuya, Matsushima Satoshi, Shimizu Tetsuya, Gomi Taku, Fukasawa Nei
机构信息
Department of Pediatrics, Jikei University School of Medicine Tokyo, Japan, 3-25-8, Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461.
Department of Clinical Genetics, Jikei University School of Medicine Tokyo, Japan, 3-25-8, Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461.
出版信息
Radiol Case Rep. 2021 Dec 28;17(3):771-774. doi: 10.1016/j.radcr.2021.11.066. eCollection 2022 Mar.
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 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.
亚历山大病是一种罕见的脑白质营养不良，由编码胶质纤维酸性蛋白（GFAP）的基因杂合突变引起。在一些病例中，已描述了脑白质空洞形成，主要分布在额叶脑室周围区域。在此，我们报告一例由p.Tyr366Cys变异导致的1岁新生儿亚历山大病男孩病例，其白质空洞形成迅速且广泛。该病例拓宽了亚历山大病的影像学谱，并提示p.Tyr366Cys变异与空洞形成之间可能存在基因型-表型相关性。
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