GM1神经节苷脂贮积症影像学表现及随访研究

Imaging manifestations and follow-up study of GM1 gangliosidosis

目的:探讨2例GM1神经节苷脂贮积症患儿的影像学表现。方法:回顾性分析本院2019—2020年经临床确诊的2例GM1神经节苷脂贮积症患儿的影像学多次随诊资料,分别行全身骨关节X线平片、头颅及胸部CT平扫,头颅MRI平扫及增强、扩散加权成像检查,分析其影像学特征和累及的脏器,并复习相关文献。结果:2例患儿的发病年龄分别为5月、6月,均有全面发育迟缓伴倒退、反复抽搐、肝功能损害,1例眼底检查黄斑部见樱桃红斑。头颅MRI均见双侧大脑半球广泛髓鞘化异常,基底节区与丘脑T1WI、T2WI信号均呈稍高信号,大脑萎缩。头颅CT双侧大脑半球脑白质见片状低密度影,基底节区、丘脑密度不均呈斑片状等、低密度。X线平片见多发性骨发育不良,四肢长骨见多条生长障碍线,掌指骨短粗,脊柱后突畸形,部分椎体前缘尖突畸形呈“鸟嘴状”,双侧肋骨、髂骨发育不良。2例患儿全外显子基因检测结果示GM1神经节苷脂贮积症。结论:GM1神经节苷脂贮积症影像学表现总体可归纳为颅脑广泛髓鞘化异常,基底节区、丘脑对称性异常信号,丘脑、胼胝体形态小,脑萎缩,合并多发性骨发育不良,但无脑室显著扩张、病灶扩散受限、异常强化灶。

Objective:To investigate the imaging findings of 2 children with GM1 gangliosidosis.Methods:Multiple follow-up imaging data of 2 children with GM1 ganglioside storage disease diagnosed clinically between 2019 and 2020 in our hospital were retrospectively reviewed.X-ray plain film on the whole body bone and joint,CT plain scan on head and chest,cranial MRI plain scan and enhanced,diffusion-weighted imaging examination were performed respectively,to analyze the imaging characteristics and the involved organs,and the relative literatures were reviewed.Results:The onset ages of the two children were 5 months and 6 months,respectively,they all had overall developmental delay with regression,repeated convulsions,and liver damage.One case was shown the cherry erythema in the fundus macular area.Head MRI showed extensive myelination abnormalities in bilateral cerebral hemispheres in two cases.The T1 WI and T2 WI signals of the basal ganglia and thalamus were slightly high,with the atrophy brain.The white matter on the bilateral cerebral hemispheres of the head CT showed patchy low-density shadows,and the uneven density of the basal ganglia and thalamus was shown in patchy with equal density and low-density.Multiple skeletal dysplasias could be seen on plain radiographs,long bones of the limbs could be seen with multiple growth disorder lines,short and thick metacarpal and phalangeal bones,kyphosis deformity,some anterior vertebral protrusion deformities in the shape as "bird’s beak",and dysplasia on bilateral ribs and iliac bone.The results of all-exon gene detection in 2 children showed GM1 gangliosidosis.Conclusion:The overall imaging findings of GM1 gangliosidosis can be summarized as extensive brain myelination abnormalities,symmetrical abnormal signals in the basal ganglia and thalamus,small morphology of the thalamus and corpus callosum,brain atrophy,combined with multiple skeletal dysplasia,moreover,it has no significant expansion of the cerebral ventricles,abnormalities in diffusion weighted imaging,and abnormal strengthening lesion.