Aicardi-Goutieres 综合征 2
基因病名称(英)
Aicardi-Goutieres syndrome 2
基因病名称
Aicardi-Goutieres 综合征 2
关键字(英)
Aicardi-Goutieres syndrome
关键字
Aicardi-Goutieres 综合征
别名(英)
Cree encephalitis,Pseudo-TORCH syndrome
统计
reviewed:1; annotated:0
交叉引用
610181,C3489724,CN028877,D009421,D020274
描述(英)
A form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
描述
Aicardi-Goutieres 综合征的一种形式，一种遗传异质性疾病，其特征是脑萎缩、白质脑病、颅内钙化、慢性脑脊液 (CSF) 淋巴细胞增多、CSF α-干扰素增加和常见产前感染的血清学检查阴性。血小板减少、肝脾肿大和肝转氨酶升高以及间歇性发热等临床特征可能错误地提示感染过程。严重的神经功能障碍在婴儿期表现为进行性小头畸形、痉挛、肌张力障碍姿势和严重的精神运动迟缓。死亡经常发生在儿童早期。