1. Hypo: inc T2, nl T1 Dys/Demye: inc T2, decr T1
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 :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 Micro-bleeds CACH/VMM
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!