Cerebellar atrophy with hyperintensity

Case contributed by Dr Praveen Jha

Presentation

Regression of milestones; Nystagmus; No seizures; No history of anti-epileptics.

Patient Data

Age: 2
Gender: Male

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.

Case Discussion

Cerebellar atrophy with cortical hyperintensity is a vague finding, however in isolation, it may have various etiologies-

Congenital

1. Infantile neuroaxonal dystrophy

2. Marinesco-Sjogren Syndome

3. Mitochondrial disorders

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 its a gradual process where child has regression pointing towards a neurodegenerative disorder.

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Case information

rID: 39890
Case created: 26th Sep 2015
Last edited: 27th Sep 2015
Inclusion in quiz mode: Excluded

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