| H01678 | |
| H番号 | H01678 |
| 名称 | ダンディ・ウォーカー症候群 |
| 概要 | Dandy-Walker syndrome (DWS) is a congenital brain malformation, characterized by posterior fossa cyst, cystic dilatation of the fourth ventricle, cerebellar vermis dysgenesis, and an upwardly displaced tentorium. Patients often have motor deficits such as delayed motor development, hypotonia and ataxia. About half have mental retardation, and some have hydrocephalus. It has been suggested that heterozygous loss of ZIC1 and ZIC4 is the cause of this disease. Various managements of DWS have been reported from open excision of the cysts to CSF diversion. Ventriculoperitoneal (VP) and cystoperitoneal (CP) shunt insertion are the most common choices in the treatment of DWS. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | ZIC1 [HSA:7545] [KO:K09224] ZIC4 [HSA:84107] [KO:K09225] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA06.0 ICD-10: Q03.1 MeSH: D003616 OMIM: 220200 |
| 文献 | PMID:15338008 著者 Grinberg I, Northrup H, Ardinger H, Prasad C, Dobyns WB, Millen KJ タイトル Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in Dandy-Walker malformation. 雑誌 Nat Genet 36:1053-5 (2004) DOI:10.1038/ng1420 PMID:26770421 (treatment) 著者 Lin J, Liang G, Liang Y, Kou Y タイトル Long-term follow-up of successful treatment for dandy-walker syndrome (DWS). 雑誌 Int J Clin Exp Med 8:18203-7 (2015) |