Dataset Information
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.
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ABSTRACT: 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.
SUBMITTER: Feraco P
PROVIDER: S-EPMC7965601 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
Publications
The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.
AJNR. American journal of neuroradiology 20120621 11
<h4>Summary</h4>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 subcortic ...[more]
