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Leukodystrophy 2013

Leukodystrophy 2013. Hypo: inc T2, nl T1 Dys / Demye : inc T2, decr T1. Confluent. Within confluent: Diffuse (can be end stage of everything, so what’s diffuse in the beginning MLC (megalencencephaluc with subcortical cysts)

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Leukodystrophy 2013

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  1. Leukodystrophy 2013 Hypo: inc T2, nl T1 Dys/Demye: inc T2, decr T1

  2. Confluent • Within confluent: • Diffuse (can be end stage of everything, so what’s diffuse in the beginning • MLC (megalencencephaluc with subcortical cysts) • Vanishing White matter disease (YOU have to have low signal on FLAIR) • LAMA2: • Frontal • Classic is Alexanders • Often has contrast

  3. Parietal - occital • ALD – onset in childhood • Has contrast enhancement • TEMPORAL LOBE • Aicardiai Syndrome - calcifications • Cogenital CMV

  4. Leukodystrophy • MRI T2 hyperintensity abnormality needed for dx • Findings on other sequences needed (T1 and FLAIR) • Pattern varies according to dx

  5. White matter maturation • What you seen at maturity is noted by 8 mo on T1 • What you see at maturity is noted by 24 mo on T2 Schiffman and der Knaap Neurology 2009

  6. MRI technique to ddx White matter • T2 hyperintensive with T1 isointense = Hypomyelination (T1 looks like young infant pattern) • PMP (PLP-1) • PMD-like GJA12 • Salla disease • T2 hyperintense with T1 hypointense = demyelination • X linked ALD ABCD1 • MLD • LBSL • Many others

  7. 4H Syndrome • Certain patterns of hypomyelination • Steemweg Nraom 2010133:2971

  8. False hypomyelination occurs in certain phases • Some delayed myelination plus multifocal lesions can occur • Hypomyelination is NOT delayed myelination • Vaurs-Barriere et al. 2009

  9. Hyperintense and hypointense T1 • Confluent vs. multifocal • Patterns • Diffuse • Periventricular predominance • Subcortical • Large assymmetric • Cerebellar

  10. Multifocal can be progressive or stataic • Static • 18q minus syndrome • Sjogren Larsson • RNAase T2 deficient • Cogenital CMV

  11. Multifocal • PML • Brucellosis • Vasculopathies (Cadasil, Fabry, susac) • Mitochondrial • LBSL • Callagen IV A1 defect

  12. Frontal predominance • Infantile Alexander • Infantile MLD

  13. Brainstem involvement/Cerebellum • Alexander or LBSL • Leigh • Wilson • Peroxisomal

  14. Special MRI features • Cystic white matter degeneration • CACH/VWM • Mitochondrail • Enlarged perivascular • Mucopolysaccharidoses • Other chromosomal abnormaliteis • Lowe syndrome

  15. Special features indicate specific entities • Cortical dysplasia • Cortical lesions • Basal ganglia • Contrast enhancement • MS, infection, ADEM,vasulitis, malignace • Mitochondrial disorders • X-ALD • Leurkoencephalopathy with califications and cysts LCC

  16. Calcifications • Cockayne Syndrome

  17. Cortical • L-2 hydroxyglutaric aciduria • Canavans • Kearns-Sayre

  18. Periventricualr • MLD (beware MS) • Adult polyglucosan body disease (always thin cord) • Krabbe • LBSL • Later onset neuronal degneral (neuronal ceroid lipfuscinosis)

  19. Patterns • Diffuse from the beginning • CACH/VMM • Micro-bleeds • Acquired and genetic vasculopathy • Collagen IV A1 defect, amyloid,

  20. Periventricular • MLD and Krabbe • MLD has involvement of corpus callosum • Krabbe more likely has atrophy

  21. Mitochondrial disorders • Frequently the dendate are involved

  22. Large assymemetric lesions • HDLS: hereditary diffuse leukoencephalopathy with spheroids – MARKED FRONTAL ATROPHY • CRMSS

  23. BRAIN STEM Predomindance • Peroxismal disorders • LBSL – entire cord and brainstem • Adult polyglucosan body disease • CEREBELLUM • CTX • ADLD

  24. Multifocal • Progressive vs. static vs. prominent perivascular spaces • Lowe – enlarged perivascular spaces • “PTEN” autism and microcephalphy

  25. Delayed myelination- can be neuronal disorders • SOX10 related disorders • MCT8 related disorders • Other neuronal disorders The white matter improves but the patient does not!

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