1 / 25

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)

jaken
Télécharger la présentation

Leukodystrophy 2013

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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!

More Related