Cerebellar atrophy with hyperintensity
Regression of milestones; Nystagmus; No seizures; No history of anti-epileptics.
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The cerebellum is strikingly 'bright' as compared to rest of brain, and shows prominent cerebellar foliae and widened interfolial spaces. The rest of the brain is unremarkable.
Cerebellar atrophy with cortical hyperintensity is a vague finding, however in isolation, it may have various etiologies-
4. Glycosylation disorder Type Ia
1. Prior toxic insult, anti-epileptic intake etc.
2. Prior cerebellitis.
In this particular case, none of the prior acquired history is there, and rather its a gradual process where child has regression pointing towards a neurodegenerative disorder.
- P. Feraco, M. Mirabelli-Badenier, M. Severino, M.G. Alpigiani, M. Di Rocco, R. Biancheri, and A. Rossi The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a AJNR Am. J. Neuroradiol. 2012 33: 2062-2067.