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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
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
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
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
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
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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  • 1. White matter diseases Dr. Hytham Nafady
  • 2. Metabolic disorders White matter Grey matter Cortical Deep grey matter grey matter
  • 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. 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. Cortical grey matter disorders • • • • Neuronal lipofuscinoses. Mucolipidoses. Glycogen storage disease. GM1 Gangliosidosis.
  • 6. Neuronal lipofuscinosis
  • 7. Deep grey matter Globus pallidus Corpus striatum
  • 8. Globus pallidus DD Kernicterus NF1 CO Hallervorden spatz syndrome Wilson disease Fucosidosis
  • 9. Corpus striatum DD Hypoxia Hypoglyemia PRESS Osmotic myelinolysis Encephalitis Leigh Wilson disease disease Glutaric aciduria Gangliosidosis Urea cycle disorders
  • 10. White matter disorders
  • 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. 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. 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. 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. 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. De-myelination Vs Dys-myelination De-myelination: • Multifocal & asymmetrical. Dys-myelination: • Confluent & symmetrical.
  • 17. Dys-myelination Vs De-myelination MLD ADEM
  • 18. Dys-myelination Vs De-myelination MLD ADEM
  • 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. Hypo-myelination Dys-myelination
  • 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. 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. 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. Hypomyelination
  • 25. Myelination PNS CNS
  • 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. Diffuse white matter With macro-cephaly Without macro-cephaly Canavan disease Organic acidurias Alexander disease Kearns Sayer Megaloencephalic encephalopathy
  • 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. Subcortical white matter Hydroxyglutaric aciduria Kearns Sayer
  • 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. Most common leukodystrophies
  • 32. … Adult onset leukodystrophies • Metachromatic Leukodystrophy • Krabbé globoid cell leukodystrophy • Adrenoleukodystrophy • Refsum disease • Pelizaeus-Merzbacher disease • Alexander disease
  • 33. Role of MRS
  • 34. Normal myelination At birth 6 month 1 year 2 years
  • 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. Leukodystrophies with macro-cephaly • Canavan. • Alxander. • Van Der Knapp encephalopathy
  • 37. • • • • Subcortical white matter. Globus pallidus. Thalami. Dorsal brain stem. Canavan disease
  • 38. Alexander disease
  • 39. Adult form of Alexander disease
  • 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. Hypomyelination syndromes
  • 42. Hypomyelination with congenital cataract (HCC)
  • 43. HCC
  • 44. HCC
  • 45. HCC
  • 46. HCC
  • 47. Diffuse hypomyelination 4 years 11 years
  • 48. Hypomyelination with cerebellar atrophy
  • 49. Hypomyelination with cerebellar atrophy
  • 50. 4 H syndrome • Hypomyelination. • Hypoodontia. • Hypogondatrophic Hypogonadism.
  • 51. Pelizaeus Merzbacher disease
  • 52. PMD
  • 53. Krabbe’s disease
  • 54. Hydroxy glutaric aciduria • White matter: subcortical white matter with centripetal deeper confluent progress. • Bilateral basal ganglia abnormal T2 bright signal.
  • 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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