The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a.
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.
Departments of Pediatric Neuroradiology, G. Gaslini Children’s Hospital, Genova, Italy.
P
P
Feraco
M
M
Mirabelli-Badenier
M
M
Severino
M G
MG
Alpigiani
M
M
Di Rocco
R
R
Biancheri
A
A
Rossi
D001284:Atrophy / Q000151:congenital / Q000473:pathology; D002526:Cerebellar Diseases / Q000151:congenital* / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D002675:Child, Preschool; D018981:Congenital Disorders of Glycosylation / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity