Metachromatic leukodystrophy

Case contributed by Dr Mohammad A. ElBeialy


15 months old female baby with delayed developental milestones.

Patient Data

Age: 15 months
Gender: Female

Bilateral symmetrical butterfly-shaped T2 prolongation of the peri-ventricular and deep white matter with relative sparing of the subcortical U-fibers. The lesion shows hypointense T1 and hyperintense T2 / FLAIR signal with characteristic tigroid pattern. No evident post-contrast enhancement. The lesion shows evident restricted diffusion with high DWI and low ADC signal.

MR spectroscopy examination of the lesion shows elevation of the choline (Cho), myoinositol (MI) and lipid / lactate with depression of the N-acetyl aspartate (NAA).

Case Discussion

This case shows dysmyelinating white matter disease, with the above described conventional and MR spectroscopic criteria are typical of metachromatic leucodystrophy (MLD).

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Case information

rID: 23517
Published: 20th Jun 2013
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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