Metachromatic leukodystrophy - infantile type

Case contributed by Aneesh Km
Diagnosis probable

Presentation

Two year old child with neuronal regression

Patient Data

Age: 2 years
Gender: Female

Diffuse confluent periventricular and deep white matter increased T2 signal intensities with sparing of subcortical U fibers, predominantly in the bilateral parietal region. Linear hypointense signals are also noted in the white matter giving a tigroid appearance.

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