Metachromatic leukodystrophy

Case contributed by Naim Qaqish
Diagnosis certain


Impaired vision acutely.

Patient Data

Age: 4 years
Gender: Male



Extensive bilateral cerebral white matter signal abnormalities are seen with diffusion restriction. Other similar abnormal signals are also seen in the posterior limbs of the internal capsules, dorsal aspect of the pons, cerebellar white matter, the medulla, and cervical spinal cord.

Findings are indicative of juvenile metachromatic leukodystrophy.

Mild widening of the frontotemporal subarachnoid spaces is noted.

Partial opacification of the paranasal sinuses and mastoid air cells.

S-shape cervicodorsal scoliosis is noted.

Case Discussion

Metachromatic leukodystrophy is the most common leukodystrophy. It can present as late infantile, juvenile, and adults forms.

Other differentials initially considered given the acute presentation was ADEM and acute hypoxic-ischemic insult.  Clinical and laboratory evaluation confirmed Metachromatic leukodystrophy.

Other MRI findings of affected areas on T2WI may show a  "tigroid pattern" on the axial plane or "leopard pattern" on the sagittal plane representing sparing along the venules.

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