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目的通过观察和分析17例中国早期儿童型白质消融性白质脑病(VWM)患儿的自然病程发展,了解其主要神经系统表型的进展特点,初步进行基因型-表型分析。方法选择2006年9月-2010年10月北京大学第一医院临床诊断的17例VWM中国患儿为研究对象,提取其外周血白细胞;;DOI:10.3969/j.issn.NA,PCR扩增致病基因真核细胞翻译启动因子2B(EIF2B1~5)的外显子及外显子与内含子交界区进行分子诊断。对其神经系统障碍的进展进行随访分析。结果 1.基本情况:17例患儿中男12例,女5例。13例起病前发育正常。2.起病特点:起病年龄平均2.7岁(0.4~6.4岁),70%(12/17例)为感染或头部外伤后急性起病,30%(5/17例)无诱因亚急性起病,均以运动障碍起病。3.病程特点:末次随访平均病程4.30 a(0.30~8.70 a),均呈进行性加重,3例死亡。64%(11/17例)病程中伴发作性加重。已获得独走技能的患儿最早于起病后0.17 a不能独走,发病2.00 a后均不能独走。发病4.50 a后患儿均丧失行走能力,最早丧失行走能力的年龄为起病后0.42 a,丧失行走能力的平均年龄为5.2岁(2.0~11.0岁),起病年龄越小,丧失行走能力的年龄越早。认知功能障碍进展缓慢。6例(35%)伴惊厥。重型患儿中女童明显少于男童。4.基因型-表型关系:重型患儿中eIF2Bγ突变者多于eIF2Bε突变者,相同基因型(eIF2B:γI346T)患儿表型存在明显差异。结论早期儿童型VWM中国患儿运动功能退化进展最为突出,进展速度快。目前尚缺乏明确的基因型-表型相关性。
Objective To observe and analyze the natural history of 17 children with early white matter-induced white matter encephalopathy (VWM) in China and to understand the characteristics of their major nervous system phenotypes and to conduct preliminary genotype-phenotype analysis. Methods Seventy patients with VWM diagnosed in Peking University First Hospital from September 2006 to October 2010 were enrolled in this study. Their peripheral blood leukocytes were extracted. DOI: 10.3969 / j.issn.NA Molecular Diagnosis of Eukaryotic Cell Translation Initiation Factor 2B (EIF2B1 ~ 5) Exon and Intron Boundary Region of Disease Gene. Follow-up analysis of the progression of neurological disorders. Results 1. Basic information: There were 12 males and 5 females in 17 cases. 13 cases of normal development before onset. 2. onset characteristics: mean age at onset of 2.7 years (0.4 to 6.4 years), 70% (12/17 cases) of acute onset of infection or head trauma, 30% (5/17 cases) no incentive subacute Get sick, are dyskinesia onset. 3. Course characteristics: the average duration of the last follow-up 4.30 a (0.30 ~ 8.70 a), were progressive aggravating, 3 patients died. 64% (11/17 cases) with exacerbations. Children who have gained the solo skills are not allowed to walk alone at least 0.17 years after onset and can not go alone after 2.00 years of onset. After onset of 4.50 a, all children were disabled, the first loss of walking ability was 0.42 a after onset, the average age of loss of walking ability was 5.2 years (2.0 to 11.0 years), the younger the age of onset, loss of walking ability The earlier age. Cognitive impairment is slow. 6 cases (35%) with convulsions. There were significantly fewer girls in heavy children than boys. 4. Genotype-phenotype relationship: Heavy children with eIF2Bγ mutation than eIF2Bε mutation, the same genotype (eIF2B: γI346T) children with significant phenotype differences. Conclusion Early childhood VWM motor function in children with degeneration of the most prominent progress and rapid progress. At present there is a lack of a clear genotype - phenotype correlation.