Abstract
Magnetic resonance (MR) imaging has an important role in the diagnosis of metachromatic
leukodystrophy (MLD). We report diffusion-weighted MR imaging (DWI) findings of four
cases of juvenile type MLD. DWI showed restricted diffusion lines with greater areas
of increased diffusion in three patients and widespread increased diffusion in one
patient. This variability in DWI findings can be related to the histological stage
of the disease at the time of imaging, ranging from intracellular metachromatic material
accumulation to breakdown of myelin membranes.
Key words
Metachromatic leukodystrophy - diffusion-weighted imaging - magnetic resonance imaging
References
- 1
Barkovich J A.
Concepts of myelin and myelination in neuroradiology.
AJNR Am J Neuroradiol.
2000;
21
1099-1109
- 2
Caro P A, Marks H G.
Magnetic resonance imaging and computed tomography in Pelizaeus-Merzbacher disease.
Magn Reson Imaging.
1990;
8
791-796
- 3
Clarke J T, Skomorowski M A, Chang P L.
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.
Am J Med Genet.
1989;
33
10-13
- 4
Engelbrecht V, Scherer A, Rassek M, Witsack H J, Modder U.
Diffusion-weighted MR imaging in the brain in children: findings in normal brain and
in the brain with white matter diseases.
Radiology.
2002;
222
410-418
- 5
Faerber E N, Melvin J J, Smergel E M.
MRI appearances of metachromatic leukodystrophy.
Pediatr Radiol.
1999;
29
669-672
- 6
Gieselmann V, Polten A, Kreysing J, von Figura K.
Molecular genetics of metachromatic leukodystrohy.
J Inherit Metab Dis.
1994;
17
500-509
- 7
Kim T S, Kim I O, Kim W S. et al .
MR of childhood metachromatic leukodystrophy.
Pediatr Radiol.
1999;
29
669-672
- 8
McKhann G M.
Metachromatic leukodystrophy:clinical and enzymatic parameters.
Neuropediatrics.
1984;
15
4-10
- 9
Sener R N.
Metachromatic leukodystrophy: Diffusion MR imaging findings.
AJNR Am J Neuroradiol.
2002;
23
1424-1426
- 10
Sener R N.
Metachromatic leukodystrophy: Diffusion MR imaging and proton MR spectroscopy.
Acta Radiologica.
2003;
44
440-443
1 Presented in part at the American Society of Neuroradiology Meeting 2004, Seattle,
USA
MD Banu Anlar
Department of Pediatric Neurology, Faculty of Medicine, Hacettepe University
06100 Ankara
Turkey
eMail: banlar@hacettepe.edu.tr