Learning objectives
To evaluate the role of MR imaging of leukodystrophies in children.
To establish an accurate diagnosis and to narrow down the differential diagnosis in various white matter diseases.
To assess the severity and extent of the underlying lesion in various conditions of white matter diseases.
To demonstrate the different patterns of abnormal myelination in white matter diseases.
Background
Disorders of white matter development comprise a number of genetically determined or acquired diseases affecting the growth and maturation of axons,
the formation and maintenance of myelin,
and all injuries occurring during maturation (1).
Leukodystrophies are hereditary disorders of white matter that impair brain that is initially normally formed and developed.
They can affect brain myelin throughout life.
The disorders are commonly progressive in nature and ultimately fatal.
First manifestations are often cognitive deterioration and neuropsychological problems.
Motor and balance difficulties occur,
as do visual...
Findings and procedure details
12 patients who were suspected of leukodystrophy clinically underwent MRI using 1.5t Philips Achieva machine withSense Head coils.
The following sequences will be selected as required.
Localizer sequence conventional spin echo.
Sagittal FLAIR,
STIR,
T1 FS
Axial and sagittal T1 images
Axial,
sagittal and coronal T2 images
Proton density images.
Diffusion weighted imaging and ADC map
Axial Grey matter only and white matter only sequences
OPTIONAL SEQUENCES:
DTI and FT; IV contrast study; TOF angiography shall be included in the study as and when required....
Conclusion
Out of 12 patients 7 were diagnosed leukodystrophies,
4 were leukoencephalopathies and 1 hypomyelination.
Leukodystophies:
Metachromatic leukodystrophy
Adenoleukodystrophy
Canavan disease
Krabbe disease
Alexanders disease
Leigh’s disease
Non-specific leukodystrophy
Leukoencephalopathies:
Periventricular leukoencephalopathy
Megaloencephalic Leukoencephalopathy
Cavitating Leukoencephalopathy
Vanishing white matter disease
MRI has become the primary imaging modality in patients with leukodystrophy and plays an important role in the identification,
localization,
and characterization of underlying white matter abnormalities in affected patients.
Although the mr imaging features of leukodystrophy are often nonspecific,
systematic analysis of the finer details...
Personal information
Author: Sindu P Gowdar
Co-authors: Balakrishna P Shetty
Dhananjaya K V N
I declare that to the best of my knowledge and belief neither I nor my co-authors have any interest which might conflict,
or be perceived to conflict,
with my work responsible for research outcome.
Furthermore,
if situation should change,
I will notify the organization or involved governing body without delay.
References
Barkovich AJ,
Lyon G,
Evrard P.
Formation,
maturation and disorders of white matter.
AJNR 1992;13:447-461.
Eva-Maria Ratai,
Paul Caruso,
Florian Eichler.
Advances in MR imaging of leukodystrophies.
Neuroimaging – Clinical Applications,
Peter Bright (Ed.). ISBN : 978-953-51-0200-7.
Alves D,
Pires MM,
Guimaraes A,
Miranada MC. Four cases of late onset metachromatic leukodystrophy in a family,
clinical,
biochemical and neuropathological studies.
J Neurol Neurosurg Psychiatry 1986;1417-1422.
Melhem ER,
Loes DJ,
Georgiades CS,
Raymond GV,
Moser HW.
X-linked adrenoleukodystrophy : The role of contrast-enhanced MR imaging in...
