TY - JOUR T1 - The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 2062 LP - 2067 DO - 10.3174/ajnr.A3151 VL - 33 IS - 11 AU - P. Feraco AU - M. Mirabelli-Badenier AU - M. Severino AU - M.G. Alpigiani AU - M. Di Rocco AU - R. Biancheri AU - A. Rossi Y1 - 2012/12/01 UR - http://www.ajnr.org/content/33/11/2062.abstract N2 - SUMMARY: 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. BAEPbrain stem auditory evoked potentialCAcerebellar atrophyCDGcongenital disorders of glycosylationCHcerebellar hypoplasiaEEGelectroencephalogramERGelectroretinogrammInsmyo-inositolNCVnerve conduction velocityPMMphosphomannomutasePRESSpoint-resolved spectroscopy sequencesIscyllo-inositolVEPvisual-evoked potentials ER -