| Autor: |
Hirokazu Takeuchi, MD, Norimichi Higurashi, MD, PhD, Hiroshi Kawame, MD, PhD, Tadashi Kaname, MD, PhD, Kumiko Yanagi, DDSc, PhD, Yuichiro Nonaka, MD, PhD, Tatsuya Hirotsu, MD, Satoshi Matsushima, MD, PhD, Tetsuya Shimizu, MD, PhD, Taku Gomi, MD, Nei Fukasawa, MD |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Radiology Case Reports, Vol 17, Iss 3, Pp 771-774 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1930-0433 |
| DOI: |
10.1016/j.radcr.2021.11.066 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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