NDUFV1核基因突变引发的Leigh综合征MRI表现及诊断

MRI appearances and diagnosis of Leigh syndrome induced by the mutation of NDUFV1 nuclear gene

目的报道1例NDUFV1核基因c.632(exon5)C>T和c.274(exon3)G>A位点突变引发的2月龄患儿Leigh综合征的磁共振成像(MRI)表现与诊断。方法综合分析该患儿头颅MRI平扫、质谱分析和基因检测结果,并给予Leigh综合征诊断。结果双侧大脑半球白质及脑干背侧皮质脊髓束呈弥漫性稍长T_(1)、稍长T_(2)信号影,双侧内囊后肢呈稍长T_(1)、长T_(2)信号影,弥散加权成像(DWI)上病变均呈高信号影;DWI上胼胝体亦呈稍高信号影;延髓后部可见条状长T_(2)信号影。结论病变MRI影像表现呈现长T_(1)、长T_(2)信号,且双侧大脑半球白质受累,与典型的Leigh综合征影像表现一致。其他受累部位主要为脑干背侧皮质脊髓束、双侧内囊后肢及胼胝体,与典型的Leigh综合征受累部位有所差异。总体来看,临床和MRI表现的特异性都较低,确诊需要依赖基因检测。

Objective To report the magnetic resonance imaging(MRI)appearances and diagnosis of a 2-month-old child with Leigh syndrome induced by c.632(exon5)C>T and c.274(exon3)G>A sites mutation from NDUFV1 nuclear gene.Methods The child was diagnosed with Leigh syndrome based on the comprehensive investigation of the results of MRI plain scan of head,mass spectrum analysis and genetic test.Results The white matter of bilateral cerebral hemispheres and the corticospinal tract of dorsal brainstem showed diffuse longish T_(1) and longish T_(2) signal shadow,the hind limbs of bilateral internal capsule showed longish T_(1) and long T_(2) signal shadows,and all lesions on diffusion-weighted imaging(DWI)showed high signal shadows;the corpus callosum on DWI also show slightly high signal shadows;there are strips of long T_(1) and long T_(2) signal shadows in the posterior medulla oblongata.Conclusion MRI imaging features of the lesions shows long T_(1) and long T_(2) signals,and the affected parts are bilateral white matter,which are in accordance with the typical imaging features of Leigh syndrome.The other affected parts are mainly cerebral stem dorsal corticospinal tract,bilateral internal capsule hind limbs and corpus callosum,which are inconsistent with the typical affected parts of Leigh syndrome.On the whole,the specificity of clinical manifestations and MRI appearances are lower,and making a definite diagnosis strongly depends on genetic test.