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PT  - JOURNAL ARTICLE
AU  - Feraco, P.
AU  - Mirabelli-Badenier, M.
AU  - Severino, M.
AU  - Alpigiani, M.G.
AU  - Di Rocco, M.
AU  - Biancheri, R.
AU  - Rossi, A.
TI  - The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a
AID  - 10.3174/ajnr.A3151
DP  - 2012 Dec 01
TA  - American Journal of Neuroradiology
PG  - 2062--2067
VI  - 33
IP  - 11
4099  - http://www.ajnr.org/content/33/11/2062.short
4100  - http://www.ajnr.org/content/33/11/2062.full
SO  - Am. J. Neuroradiol.2012 Dec 01; 33
AB  - 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