| H00878 | |
| H番号 | H00878 |
| 名称 | Cystic leukoencephalopathy without megalencephaly |
| 概要 | Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with normo- or microcephaly and psychomotor impairment within the first year of life. Brain magnetic resonance imaging (MRI) shows bilateral anterior temporal lobe cystic lesions and enlarged inferior horns combined with multifocal white matter alterations. Loss-of-function mutations in the gene encoding the RNASET2 glycoprotein lead to this disorder. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | - |
| 病因遺伝子 | RNASET2 [HSA:8635] [KO:K01166] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C55.2 ICD-10: E75.2 MeSH: C567845 OMIM: 612951 |
| 文献 | PMID:19525954 著者 Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschutter A, Kratzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Ruschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nurnberg P, Gartner J タイトル RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. 雑誌 Nat Genet 41:773-5 (2009) DOI:10.1038/ng.398 |