Metachromatic leukodystrophy

Case contributed by Utkarsh Kabra
Diagnosis probable

Presentation

Developmental delay

Patient Data

Age: 3 years
mri

Confluent T2/FLAIR hyperintensities with hypointense foci within (tigroid pattern) in bilateral white matter with relative sparing of temporal lobes. Subtle hyperintensities are also seen in posterior limbs of bilateral internal capsule.

Case Discussion

Above findings with the tigroid pattern are fairly suggestive of metachromatic leukodystrophy.

A close differential diagnosis is Krabbe disease. However, lack of cerebral atrophy, significant T2 hypointensity of thalami and thickening of optic nerves favors metachromatic leukodystrophy over Krabbe disease.

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