Gire C, Girard N, Nicaise C, Einaudi M A, Montfort M F, Dejode J M
Paediatric Department, Hôpital Nord, Université de la Méditérranée, Chemin des Bourrelys, 13915 Marseille Cedex 20, France.
Childs Nerv Syst. 2002 Nov;18(11):621-8. doi: 10.1007/s00381-002-0621-0. Epub 2002 Sep 12.
We hoped to itemize the clinical and neuroradiological features of six neonates with mitochondrial disorders.
We examined a case series of six neonates. The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. Magnetic resonance (MR) imaging was performed in all cases.
The antenatal onset in five cases and the lack of any symptom-free interval are suggestive of fetal expression of the disease. No specific symptoms were found: arthrogryposis congenita multiplex in one, progressive hepatocellular dysfunction in three, encephalomyelopathy and cardiomyopathy in four. Complex I deficiency was found in three patients, while one patients had a defect of complex IV and the last a combined defect of complexes I and IV. Neuroradiological findings were either cerebral atrophy or white matter abnormalities of the brain stem in all cases but one and gave additional information, because clinical symptoms are not quite specific. The combination of clinical and MRI findings in neonatal cases can rule out hypoxic ischemic encephalopathy, which suggests an additional screening method to look for mitochondrial disorder.
我们希望详细列出6例线粒体疾病新生儿的临床和神经放射学特征。
我们检查了6例新生儿的病例系列。线粒体细胞病的诊断基于骨骼肌活检标本中呼吸链酶活性的分光光度测量。所有病例均进行了磁共振（MR）成像。
5例产前发病且无无症状期提示疾病的胎儿期表现。未发现特定症状：1例先天性多发性关节挛缩，3例进行性肝细胞功能障碍，4例脑脊髓病和心肌病。3例患者发现复合体I缺乏，1例患者复合体IV缺陷，最后1例患者复合体I和IV联合缺陷。除1例病例外，所有病例的神经放射学表现均为脑萎缩或脑干白质异常，且提供了额外信息，因为临床症状不太具有特异性。新生儿病例中临床和MRI表现的结合可排除缺氧缺血性脑病，这提示了一种寻找线粒体疾病的额外筛查方法。
