Mascalchi Mario, Mari Francesco, Berti Beatrice, Bartolini Emanuele, Lenge Matteo, Bianchi Andrea, Antonucci Laura, Santorelli Filippo M, Garavaglia Barbara, Guerrini Renzo
Neuroradiology, Meyer Children's Hospital, Florence, Italy.
"Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy.
Cerebellum. 2017 Jun;16(3):742-745. doi: 10.1007/s12311-017-0843-z.
Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (t ) and 36 months (t ) in patient 1 and at age 22 (t ) and 31 months (t ) in patient 2. Data at t were compared to those obtained in 18 control children aged 14-44 months with normal MRI. At t , both patients showed markedly lower cerebellar volume compared to controls. At t , both patients exhibited a remarkable decrease of cerebellar volume (-25.8% in patient 1; -16.5% in patient 2) and of frontal (-6.8% in patient 1 and -3.3% in patient 2) and occipital (-9.8% in patient 1 and -9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.
婴儿神经元轴索性营养不良（INAD）的特征是进行性小脑萎缩。MRI已被推荐作为小脑疾病疾病进展的标志物。我们对一对双绒毛膜双胞胎且PLA2G6阳性的INAD患者进行了纵向脑容量研究。使用FreeSurfer软件在患者1的28月龄（t₁）和36月龄（t₂）以及患者2的22月龄（t₁）和31月龄（t₂）时采集的3T T1加权图像上计算脑容量。将t₁时的数据与18名14 - 44月龄MRI正常的对照儿童的数据进行比较。在t₁时，与对照组相比，两名患者的小脑体积均明显降低。在t₂时，两名患者的小脑体积均显著减小（患者1减小25.8%；患者2减小16.5%），额叶（患者1减小6.8%，患者2减小3.3%）和枕叶（患者1减小9.8%，患者2减小9.1%）皮质GM体积也减小。我们的MRI形态计量学研究表明，INAD的特征是小脑萎缩进展非常迅速，额叶和枕叶皮质轻度萎缩，可能继发于皮质 - 脑桥 - 小脑 - 红核 - 丘脑 - 皮质回路和视觉通路的传入神经阻滞。
