CACH综合征
CACH syndrome
定义 英文原文（暂无中文）
A new leukoencephalopathy, the CACH syndrome (Childhood Ataxia with Central nervous system Hypomyelination) or VWM (Vanishing White Matter) was identified on clinical and MRI criteria. Classically, this disease is characterized by (1) an onset between 2 and 5 years of age, with a cerebello-spastic syndrome exacerbated by episodes of fever or head trauma leading to death after 5 to 10 years of disease evolution, (2) a diffuse involvement of the white matter on cerebral MRI with a CSF-like signal intensity (cavitation), (3) a recessive autosomal mode of inheritance, (4) neuropathologic findings consistent with a cavitating orthochromatic leukodystrophy with increased number of oligodendrocytes with sometimes ``foamy'' aspect.
别名
弥漫性中枢神经系统髓鞘形成减少伴儿童期共济失调
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
相关基因 5来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| EIF2B1 | eukaryotic translation initiation factor 2B subunit alpha | ORPHA:157713 |
| EIF2B2 | eukaryotic translation initiation factor 2B subunit beta | ORPHA:157713 |
| EIF2B3 | eukaryotic translation initiation factor 2B subunit gamma | ORPHA:157713 |
| EIF2B4 | eukaryotic translation initiation factor 2B subunit delta | ORPHA:157713 |
| EIF2B5 | eukaryotic translation initiation factor 2B subunit epsilon | ORPHA:157713 |
临床表型 55
极常见 99–80%2
- 脑成像异常 HP:0410263
- 髓鞘障碍性脑白质营养不良 HP:0006978
常见 79–30%13
- 影响脑干的萎缩/退化 HP:0007366
- 小脑萎缩 HP:0001272
- 小脑蚓部萎缩 HP:0006855
- 脑萎缩 HP:0002059
- 反射亢进 HP:0001347
- 易激惹 HP:0000737
- 肢体共济失调 HP:0002070
- 视神经萎缩 HP:0000648
- 早发性卵巢功能不全 HP:0008209
- 进行性神经功能恶化 HP:0002344
- 癫痫发作 HP:0001250
- 痉挛 HP:0001257
- 躯干性共济失调 HP:0002078
偶见 29–5%39
- 桥脑形态异常 HP:0007361
- 情感淡漠 HP:0000741
- 先天性多发性关节挛缩 HP:0002804
- 非典型行为 HP:0000708
- 失明 HP:0000618
- 白内障 HP:0000518
- 认知功能损害 HP:0100543
- 胎动减少 HP:0001558
- 构音障碍 HP:0001260
- 脑回形态异常 HP:0032398
- 辨距不良 HP:0001310
- 吞咽困难 HP:0002015
- 脑病 HP:0001298
- 喂养困难 HP:0011968
- 屈曲挛缩 HP:0001371
- 婴儿型肌张力减退 HP:0008947
- SWI序列苍白球低信号 HP:0033049
- 性腺发育不全 HP:0000133
- 生长延迟 HP:0001510
- 头痛 HP:0002315
- 轻偏瘫 HP:0001269
- 肝脾肿大 HP:0001433
- 胎儿宫内发育迟缓 HP:0001511
- 侧脑室扩张 HP:0006956
- 小头畸形 HP:0000252
- 偏头痛 HP:0002076
- 轻度全面发育延迟 HP:0011342
- 运动发育迟缓 HP:0001270
- 非酮症性高甘氨酸血症 HP:0008288
- 羊水过少 HP:0001562
- 视神经炎 HP:0100653
- 胰腺炎 HP:0001733
- 原发性闭经 HP:0000786
- 肾发育不全 HP:0000089
- 继发性闭经 HP:0000869
- 痉挛性双侧瘫痪 HP:0001264
- 丘脑T2序列低信号 HP:0012690
- 呕吐 HP:0002013
- 蛛网膜下腔增宽 HP:0012704
罕见 <4–1%1
- 渐进性大头畸形 HP:0004481
外部标识与链接
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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）