Krabbe disease

Case contributed by Kanwal Laique
Diagnosis probable

Presentation

Delayed developmental milestones.

Patient Data

Age: 8 months
Gender: Female
mri

Bilateral symmetrical confluent signal abnormality involving centrum semiovale, corona radiata, peritrigonal region, posterior limb of internal capsule, brainstem and dentate nuclei of cerebellum appearing low on TIWI, high on T2WI without diffusion restriction on DWI and ADC mapping. 

Case Discussion

As opposed to main differential diagnosis of metachromatic leukoystrophy, krabbe disease initially shows symmetrical involvement of thalami, caudate nuclei, cerebellum,posterior limb of internal capsule and brainstem which later on extend to centrum semiovale / corona radiata.

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