Diffusion tensor imaging in metachromatic leukodystrophy

Metachromatic leukodystrophy: diffusion MR imaging findings.

Herein the case of a 10-month-old boy with metachromatic leukodystrophy is reported. Diffusion MR imaging performed with an echo-planar trace sequence revealed a cytotoxic edema-like pattern (high signal intensity on b = 1000 s/mm(2) images and low apparent diffusion coefficient values) in the affected white matter in the absence of an ischemic condition. This finding was unchanged at a 6-month...

MR of childhood metachromatic leukodystrophy.

PURPOSE To investigate the MR findings of childhood metachromatic leukodystrophy (MLD). METHODS Nine MR imaging studies in seven children (five girls and two boys, 10 to 32 months old) with MLD were evaluated retrospectively for the extent and progression of white matter abnormalities and the presence of contrast enhancement. RESULTS All seven cases showed symmetric, confluent high signal i...

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.

BACKGROUND AND PURPOSE Metachromatic leukodystrophy (MLD) is a devastating demyelinating disease for which novel therapies are being tested. We hypothesized that MR imaging of brain lesion involvement in MLD could be quantified along a scale. MATERIALS AND METHODS Thirty-four brain MR images in 28 patients with proved biochemical and genetic defects for MLD were reviewed: 10 patients with lat...

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD. The data revealed elevated myoinositol/creatine and lactate/creatine ratios as well as decreased N-acetyl aspartate/creatine ratios. We propos...

Metachromatic leukodystrophy: two sides of a coin.