White matter
diseases
Dr. Hytham Nafady
Metabolic disorders

White matter

Grey matter

Cortical

Deep

grey matter

grey matter
Clinical information is often very useful
to get started on the right track.
• Seizures.
Cortical
grey matter • Dementia (...
Radiological manifestations
Cortical
grey matter

Deep grey
matter

White
matter

• Sulcal enlargement.
• Cortical thinnin...
Cortical grey matter disorders
•
•
•
•

Neuronal lipofuscinoses.
Mucolipidoses.
Glycogen storage disease.
GM1 Gangliosidos...
Neuronal lipofuscinosis
Deep grey
matter
Globus
pallidus

Corpus
striatum
Globus pallidus
DD
Kernicterus
NF1
CO
Hallervorden
spatz syndrome

Wilson
disease

Fucosidosis
Corpus striatum
DD
Hypoxia
Hypoglyemia
PRESS
Osmotic myelinolysis
Encephalitis

Leigh

Wilson

disease

disease

Glutaric
...
White matter disorders
Lysosomal
storage diseases

Peroxisomal
disorders

MLD

X linked
adrenoleukodystrophy

GLD

Zellweger

Krabbe’s
disease

s...
Amino-acidopathies
and
organic acidopathies

Defects of myelin
proteins

Unknown

etiology

Canavan
disease

Pelizaeus
Mer...
White matter disorders

Demyelination

Dysmyelination

Hypomyelination

Destruction
of normal
myelin

formation of
abnorma...
MRI based approach for diagnosis of
white matter metabolic disorders
1. Is it de-myelination or dys-myelination?
2. Is it ...
Special features
• Macrocephaly Canvan, Alexander, Van Der
Knapp encephalopathy.
• Enhancement  adrenoleukodystrophy,
Al...
De-myelination Vs Dys-myelination
De-myelination:
• Multifocal & asymmetrical.
Dys-myelination:
• Confluent & symmetrical.
Dys-myelination Vs De-myelination
MLD

ADEM
Dys-myelination Vs De-myelination
MLD

ADEM
Dys-myelination Vs hypo-myelination
Dysmyelination:
• Prominent T2 hyperintensity.
• Prominent T1 hypointensity.
Hypomyeli...
Hypo-myelination

Dys-myelination
Delayed myelination Vs hypomyelination
•
•
•
•

Repeat MRI after 6 months.
Delayed myelination  myelination progression.
...
Delayed myelination
• Delayed myelination is a non specific finding
associated with global developmental delay.
Causes:
• ...
Leukodystrophy

Genetic diseases with white matter morphological changes.
1. Myelin dysfunction due to enzymatic abnormali...
Hypomyelination
Myelination

PNS

CNS
DD of leukodystrophies
Leukodystrophy

Diffuse

Subcortical

Deep

Frontal

Occipital

white matter

white matter

white m...
Diffuse white matter

With macro-cephaly

Without macro-cephaly

Canavan disease

Organic acidurias

Alexander disease

Ke...
Thalami
abnormal
Deep white
matter

Krabbe’s
disease
GM2
gangliosidosis
Brain stem
specific tract
involvement

Peroxisomal...
Subcortical
white matter

Hydroxyglutaric
aciduria

Kearns Sayer
End stage disease
• End stage white matter disease of any cause
results in diffuse (superficial and deep),
bilateral white...
Most common
leukodystrophies
… Adult onset leukodystrophies
• Metachromatic Leukodystrophy

• Krabbé globoid cell leukodystrophy
• Adrenoleukodystrophy...
Role of MRS
Normal myelination
At birth

6 month

1 year

2 years
follow up of a case of Zellweger
syndrome

At 8 months the baby could not see toys or strong
light (notice the conjugate d...
Leukodystrophies with macro-cephaly
• Canavan.
• Alxander.
• Van Der Knapp encephalopathy
•
•
•
•

Subcortical white matter.
Globus pallidus.
Thalami.
Dorsal brain stem.

Canavan disease
Alexander disease
Adult form of Alexander disease
Van Der Knapp criteria for diagnosis of
Alexander disease
• Extensive cerebral white matter changes with
frontal predomina...
Hypomyelination
syndromes
Hypomyelination with congenital
cataract (HCC)
HCC
HCC
HCC
HCC
Diffuse hypomyelination

4 years

11 years
Hypomyelination with cerebellar atrophy
Hypomyelination with cerebellar atrophy
4 H syndrome
• Hypomyelination.
• Hypoodontia.
• Hypogondatrophic Hypogonadism.
Pelizaeus Merzbacher disease
PMD
Krabbe’s disease
Hydroxy glutaric aciduria
• White matter:
subcortical white
matter with
centripetal deeper
confluent progress.
• Bilateral...
Hemolytic uremic syndrome
• Bilateral globus pallidus
abnormal T2 bright
signal.
• Bialateral external &
extreme abnormal ...
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
White matter disorders
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White matter disorders

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  • is it based on:A.J. Barkovich, Journal of Neuroradiology 34 (2007) 75–88
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White matter disorders

  1. 1. White matter diseases Dr. Hytham Nafady
  2. 2. Metabolic disorders White matter Grey matter Cortical Deep grey matter grey matter
  3. 3. Clinical information is often very useful to get started on the right track. • Seizures. Cortical grey matter • Dementia (early stage). • Chorea. Deep grey • Athetosis. matter • Dystonia. White matter • Spasticity. • Hyper-reflexia. • Ataxia.
  4. 4. Radiological manifestations Cortical grey matter Deep grey matter White matter • Sulcal enlargement. • Cortical thinning. • Cortical abnormal T2 bright signal. • Basal ganglia abnormal signal. • Basal ganglia atrophy. • Marked signal abnormality (before volume loss). • Inflammatory component. • Local predominance with progressive spread. • Cavitation & necrosis of involved white matter.
  5. 5. Cortical grey matter disorders • • • • Neuronal lipofuscinoses. Mucolipidoses. Glycogen storage disease. GM1 Gangliosidosis.
  6. 6. Neuronal lipofuscinosis
  7. 7. Deep grey matter Globus pallidus Corpus striatum
  8. 8. Globus pallidus DD Kernicterus NF1 CO Hallervorden spatz syndrome Wilson disease Fucosidosis
  9. 9. Corpus striatum DD Hypoxia Hypoglyemia PRESS Osmotic myelinolysis Encephalitis Leigh Wilson disease disease Glutaric aciduria Gangliosidosis Urea cycle disorders
  10. 10. White matter disorders
  11. 11. Lysosomal storage diseases Peroxisomal disorders MLD X linked adrenoleukodystrophy GLD Zellweger Krabbe’s disease syndrome Fabry Refsum disease disease Gangliosidosis Muco-polysaccharidosis Mitochondral disorders Leigh disease MELAS MERRF Kearns Sayer
  12. 12. Amino-acidopathies and organic acidopathies Defects of myelin proteins Unknown etiology Canavan disease Pelizaeus Merzbacher syndrome Alxander disease Glutaric aciduria 18 q syndrome Van Der Knapp encephalopathy Urea cycle disorders
  13. 13. White matter disorders Demyelination Dysmyelination Hypomyelination Destruction of normal myelin formation of abnormal myelin Reduction of the amount of myelin Leuko-dystrophy Leuko-encephalopathy Delayed myelination Leuko-malacia
  14. 14. MRI based approach for diagnosis of white matter metabolic disorders 1. Is it de-myelination or dys-myelination? 2. Is it dys-myelination or hypo-myelination? 3. Is it permanent hypo-myelination or delayed myelination? 4. Is there a predominant localization (frontal, parietooccipital, periventricular, subcortical or diffuse)? 5. Special features.
  15. 15. Special features • Macrocephaly Canvan, Alexander, Van Der Knapp encephalopathy. • Enhancement  adrenoleukodystrophy, Alexander. • Infarcts  MELAS, Urea cycle disorders. • Cortical dysplasia  Zellweger syndrome. • Hyperdense thalami  Krabbe’s disease. • Associated Addison disease adrenoleukodystrophy.
  16. 16. De-myelination Vs Dys-myelination De-myelination: • Multifocal & asymmetrical. Dys-myelination: • Confluent & symmetrical.
  17. 17. Dys-myelination Vs De-myelination MLD ADEM
  18. 18. Dys-myelination Vs De-myelination MLD ADEM
  19. 19. Dys-myelination Vs hypo-myelination Dysmyelination: • Prominent T2 hyperintensity. • Prominent T1 hypointensity. Hypomyelination: • Mild T2 hyperintensity. • Variable T1 signal (hypo, iso or hyperintense).
  20. 20. Hypo-myelination Dys-myelination
  21. 21. Delayed myelination Vs hypomyelination • • • • Repeat MRI after 6 months. Delayed myelination  myelination progression. Hypomyelination  no myelination progression. DD in these 2 conditions is quite different.
  22. 22. Delayed myelination • Delayed myelination is a non specific finding associated with global developmental delay. Causes: • Chromosomal abnormalities (e.g. trisomy 21). • Metabolic disorders (e.g. phenylketonuria). • Acquired causes (e.g. HIE).
  23. 23. Leukodystrophy Genetic diseases with white matter morphological changes. 1. Myelin dysfunction due to enzymatic abnormality 2. Demyelination – destruction of normally formed myelin 3. Dysmyelination – loss of defective myelin Enzymatic defects can be in: • • • Peroxisomes Mitochondria Lysosomes.
  24. 24. Hypomyelination
  25. 25. Myelination PNS CNS
  26. 26. DD of leukodystrophies Leukodystrophy Diffuse Subcortical Deep Frontal Occipital white matter white matter white matter predominance predominance Canavan Hydroxyglutaric aciduria Krabbe’s Alexander Gangliosidosis Van Der Knapp MLD Organic acidurias Phenyl ketonuria Peroxisomal Alexander ALD
  27. 27. Diffuse white matter With macro-cephaly Without macro-cephaly Canavan disease Organic acidurias Alexander disease Kearns Sayer Megaloencephalic encephalopathy
  28. 28. Thalami abnormal Deep white matter Krabbe’s disease GM2 gangliosidosis Brain stem specific tract involvement Peroxisomal disorders Vanishing white matter Thalami normal Brain stem normal Metachromatic leukodystrophy Phenylketonuria
  29. 29. Subcortical white matter Hydroxyglutaric aciduria Kearns Sayer
  30. 30. End stage disease • End stage white matter disease of any cause results in diffuse (superficial and deep), bilateral white matter damage that is completely nonspecific. • End stage cortical grey matter disease will often have abnormal white matter appearance, as Wallerian degeneration of axons causes diminished white matter volume and mild to moderate hyperintensity on FLAIR and T2 weighted images
  31. 31. Most common leukodystrophies
  32. 32. … Adult onset leukodystrophies • Metachromatic Leukodystrophy • Krabbé globoid cell leukodystrophy • Adrenoleukodystrophy • Refsum disease • Pelizaeus-Merzbacher disease • Alexander disease
  33. 33. Role of MRS
  34. 34. Normal myelination At birth 6 month 1 year 2 years
  35. 35. follow up of a case of Zellweger syndrome At 8 months the baby could not see toys or strong light (notice the conjugate deviation of the eyes). At 3 years she could look at herself in the mirror.
  36. 36. Leukodystrophies with macro-cephaly • Canavan. • Alxander. • Van Der Knapp encephalopathy
  37. 37. • • • • Subcortical white matter. Globus pallidus. Thalami. Dorsal brain stem. Canavan disease
  38. 38. Alexander disease
  39. 39. Adult form of Alexander disease
  40. 40. Van Der Knapp criteria for diagnosis of Alexander disease • Extensive cerebral white matter changes with frontal predominance, • Periventricular rim with high signal on T1-WIs and low signal on T2-WIs, • Abnormalities of basal ganglia and thalami, • Brain stem abnormalities, and • Contrast enhancement of particular gray and white matter structures.
  41. 41. Hypomyelination syndromes
  42. 42. Hypomyelination with congenital cataract (HCC)
  43. 43. HCC
  44. 44. HCC
  45. 45. HCC
  46. 46. HCC
  47. 47. Diffuse hypomyelination 4 years 11 years
  48. 48. Hypomyelination with cerebellar atrophy
  49. 49. Hypomyelination with cerebellar atrophy
  50. 50. 4 H syndrome • Hypomyelination. • Hypoodontia. • Hypogondatrophic Hypogonadism.
  51. 51. Pelizaeus Merzbacher disease
  52. 52. PMD
  53. 53. Krabbe’s disease
  54. 54. Hydroxy glutaric aciduria • White matter: subcortical white matter with centripetal deeper confluent progress. • Bilateral basal ganglia abnormal T2 bright signal.
  55. 55. Hemolytic uremic syndrome • Bilateral globus pallidus abnormal T2 bright signal. • Bialateral external & extreme abnormal T2 bright signal surrounding the claustra.
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