MELAS - AN ORIGINAL CASE AND CLINICAL-CRITERIA FOR DIAGNOSIS
MELAS - AN ORIGINAL CASE AND CLINICAL-CRITERIA FOR DIAGNOSIS
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DOI：
10.1016/0960-8966(92)90045-8
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发表时间：
1992-01-01
影响因子：
2.8
通讯作者：
ROWLAND, LP
中科院分区：
文献类型：
--
作者：
HIRANO, M;RICCI, E;ROWLAND, LP
我们描述了完整的历史和尸检结果在第一个确定的情况下线粒体脑肌病与中风样发作（MELAS）。为了明确诊断标准，我们分析了69例报告病例。应根据以下三个不变标准怀疑该综合征：（1）40岁以前的卒中样发作;（2）以癫痫发作、痴呆或两者兼有为特征的脑病;（3）乳酸酸中毒、破碎红纤维（RRF）或两者兼有。如果同时存在以下至少两种情况，则可以认为诊断是安全的：正常的早期发育，反复头痛或反复呕吐。全证患者的亲属中存在不完全证，散发病例中也可出现不完全证。一些MELAS患者具有Kearns塞尔综合征（KSS）或肌阵挛性癫痫伴破碎红纤维（MERRF）的特征，但没有人具有完全的KSS综合征。在部分或混淆的情况下，线粒体DNA（mtDNA）分析可能指向正确的诊断;然而，并非所有临床MELAS患者都有典型的mtDNA点突变，一些突变患者有MELAS以外的临床综合征。
We describe the full history and postmortem findings in one of the first identified cases of mitochondrial encephalomyopathy with stroke-like episodes (MELAS). To clarify diagnostic criteria, we analyzed 69 reported cases. The syndrome should be suspected by the following three invariant criteria: (1) stroke-like episode before age 40 yr; (2) encephalopathy characterized by seizures, dementia, or both; and (3) lactic acidosis, ragged-red fibers (RRF), or both. The diagnosis may be considered secure if there are also at least two of the following: normal early development, recurrent headache, or recurrent vomiting. There are incomplete syndromes in relatives of patients with the full syndrome and incomplete syndromes might also be encountered in sporadic cases. Some MELAS patients have features of the Kearns Sayre syndrome (KSS) or myoclonic epilepsy with ragged-red fibers (MERRF), but none had the full KSS syndrome. In partial or confusing cases, analysis of mitochondrial DNA (mtDNA) may point to the correct diagnosis; however, not all patients with clinical MELAS have had the typical mtDNA point mutation and some patients with the mutation have clinical syndromes other than MELAS.