Departments of Pediatric Neuroradiology, G. Gaslini Children’s Hospital, Genova, Italy.
AJNR Am J Neuroradiol. 2012 Dec;33(11):2062-7. doi: 10.3174/ajnr.A3151. Epub 2012 Jun 21.
CDG-1a is an early-onset neurodegenerative disease with selective hindbrain involvement and highly variable clinical presentation. We retrospectively reviewed the clinical records and MR imaging studies of 5 children (3 boys and 2 girls aged 12 days to 2 years at presentation) with molecularly confirmed CDG-1a. The cerebellum was hypoplastic at presentation in 4 cases, progressive bulk loss involved the cerebellum and the pons in all cases, and the cerebellar cortex and subcortical white matter were hyperintense on T2-weighted and FLAIR images in all. We conclude that CDG-1a likely results from a combination of cerebellar hypoplasia and atrophy. Cerebellar volume loss with diffuse T2/FLAIR hyperintensity seems to be a peculiar association in the field of cerebellar atrophies, and may be useful to address the differential diagnosis.
CDG-1a 是一种早发性神经退行性疾病，选择性地累及后脑，并具有高度可变的临床表现。我们回顾性分析了 5 例经分子证实的 CDG-1a 患儿（3 名男童和 2 名女童，发病时年龄为 12 天至 2 岁）的临床记录和磁共振成像研究。4 例患儿在发病时小脑发育不良，所有患儿均出现进行性小脑和脑桥体积丢失，小脑皮质和皮质下白质在 T2 加权和 FLAIR 图像上均呈高信号。我们的结论是，CDG-1a 可能是小脑发育不良和萎缩的综合结果。小脑体积丢失伴弥漫性 T2/FLAIR 高信号似乎是小脑萎缩领域中的一种特殊关联，可能有助于鉴别诊断。
