巨脑白质病变伴皮下囊肿
Megalencephalic leukoencephalopathy with subcortical cysts
ORPHA:2478疾病
定义 英文原文（暂无中文）
A form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
别名
空泡性巨脑白质脑病伴皮质下囊肿
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| AQP4 | aquaporin 4 | Disease-causing germline mutation(s) in |
| GPRC5B | G protein-coupled receptor class C group 5 member B | Disease-causing germline mutation(s) in |
| MLC1 | modulator of VRAC current 1 | Disease-causing germline mutation(s) in |
| HEPACAM | hepatic and glial cell adhesion molecule | Disease-causing germline mutation(s) in |
临床表型 18
常见 79–30%10
- 共济失调 HP:0001251
- 非典型行为 HP:0000708
- 大脑皮质下囊肿 HP:6000461
- 脑白质弥漫性肿胀 HP:0007341
- 智能衰退 HP:0001268
- 运动功能减退 HP:0002333
- 出生后巨头畸形 HP:0005490
- 癫痫发作 HP:0001250
- 痉挛 HP:0001257
- 步态不稳 HP:0002317
偶见 29–5%8
- 锥体外系功能障碍 HP:0002071
- 手足徐动症 HP:0002305
- 孤独症 HP:0000717
- 脑白质萎缩 HP:0012762
- 笨拙 HP:0002312
- 肌张力障碍 HP:0001332
- 智力障碍 HP:0001249
- 癫痫持续状态 HP:0002133
外部标识与链接
OrphanetOMIM:604004OMIM:613925OMIM:613926MONDO:0011391GARD:3445ICD-10 E75.2ICD-11 8A44.3ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）