Presentation
Regression of milestones; Nystagmus; No seizures; No history of anti-epileptics.
Patient Data
Age: 2 years
Gender: Male
From the case:
Cerebellar atrophy with hyperintensity
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The cerebellum is strikingly 'bright' as compared to rest of brain, and shows prominent cerebellar folia and widened interfolial spaces. The rest of the brain is unremarkable.
Case Discussion
Cerebellar atrophy with cortical hyperintensity is a vague finding, however in isolation, it may have various etiologies:
Congenital
1. Infantile neuroaxonal dystrophy
4. Glycosylation disorder type Ia
Acquired
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 it's a gradual process where a child has regression pointing towards a neurodegenerative disorder.
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