Hedjoudje Abderrahmane, Nicolas Gaël, Goldenberg Alice, Vanhulle Catherine, Dumant-Forrest Clémentine, Deverrière Guillaume, Treguier Pauline, Michelet Isabelle, Guyant-Maréchal Lucie, Devys Didier, Gerardin Emmanuel, Dacher Jean-Nicolas, Vivier Pierre-Hugues
Department of Medical Imaging, Rouen University Hospital, 31 rue de Germont, 76000, Rouen, France.
Department of Genetics, Rouen University Hospital, Rouen, France.
Pediatr Radiol. 2018 Sep;48(10):1463-1471. doi: 10.1007/s00247-018-4167-z. Epub 2018 Jun 20.
The imaging features of Huntington disease are well known in adults, unlike in juvenile-onset Huntington disease.
To conduct a morphometric magnetic resonance imaging (MRI) analysis in three juvenile Huntington disease patients (ages 2, 4 and 6 years old) to determine whether quantitative cerebral and cerebellar morphological metrics may provide diagnostically interesting patterns of cerebellar and cerebellar atrophy.
We report the cases of three siblings with extremely early presentations of juvenile Huntington disease associated with dramatic expansions of the morbid paternal allele from 43 to more than 100 CAG trinucleotide repeats. Automatic segmentation of MRI images of the cerebrum and cerebellum was performed and volumes of cerebral substructures and cerebellar lobules of juvenile Huntington disease patients were compared to those of 30 normal gender- and age-matched controls. Juvenile Huntington disease segmented volumes were compared to those of age-matched controls by using a z-score.
Three cerebral substructures (caudate nucleus, putamen and globus pallidus) demonstrated a reduction in size of more than three standard deviations from the normal mean although it was not salient in one of them at clinical reading and was not diagnosed. The size of cerebellum lobules, cerebellum grey matter and cerebellum cortex was reduced by more than two standard deviations in the three patients. The cerebellar atrophy was predominant in the posterior lobe.
Our study sheds light on atrophic cerebral and cerebellar structures in juvenile Huntington disease. Automatic segmentations of the cerebellum provide patterns that may be of diagnostic interest in this disease.
亨廷顿病在成年人中的影像学特征已为人熟知，而在青少年型亨廷顿病中则不然。
对三名青少年型亨廷顿病患者（年龄分别为2岁、4岁和6岁）进行形态学磁共振成像（MRI）分析，以确定定量的脑和小脑形态学指标是否能提供具有诊断意义的小脑和脑萎缩模式。
我们报告了三例患有极早期青少年型亨廷顿病的同胞病例，其患病的父本等位基因发生了显著扩增，从43个CAG三核苷酸重复序列增加到100多个。对大脑和小脑的MRI图像进行自动分割，并将青少年型亨廷顿病患者的脑亚结构和小脑小叶体积与30名年龄和性别匹配的正常对照者的进行比较。通过z分数将青少年型亨廷顿病的分割体积与年龄匹配的对照者进行比较。
三个脑亚结构（尾状核、壳核和苍白球）的大小比正常平均值减少了三个以上标准差，尽管其中一个在临床阅片时并不明显且未被诊断出来。三名患者的小脑小叶、小脑灰质和小脑皮质大小减少了两个以上标准差。小脑萎缩主要发生在后叶。
我们的研究揭示了青少年型亨廷顿病中脑和小脑结构的萎缩情况。小脑的自动分割提供了可能对该疾病具有诊断意义的模式。
