Leukodystrophies Flashcards
What is the physiology of adrenoleukodystrophy?
What are the two types?
What age range?
What are the symptoms?
What is the prognosis?
Peroxisomal disorder, characterized by LCFA that are not metabolized and become elevated in serum and body fluid
Neonatal - multiple enzyme deficiencies, diffuse white matter involvement
X-linked (80%) - single enzyme deificiency (lignoceroyl CoA ligase)
4-8 yo
Hearing and visual defects, loss of developmental milestones, neurologic symptoms precede adrenal insufficiency
Death within 2 years of symptoms
What is the enzyme in x linked adrenoleukodystrophy?
Lignoceroyl CoA ligase
What is the imaging in adrenoleukodystrophy?
What is seen in MRS?
Bilateral and symmetric demyelination in occiptoparietal region with ENHANCING margin in front
also affects auditory pathways and splenium
T2/FLAIR signal in posterior white matter and splenium, enhancement of margins
high choline, low NAA
What disease gives posterior FLAIR with marginal enhancement?
Adrenoleukodystrophy
What is the defect in metachromatic leukodystrophy?
What is the age group?
Lysosomal disorder, deficiency of arylsulfatase A
1-2 yo, also has adult forms
Most common inherited leukodystrophy?
Metachromatic leukodystrophy
What is the imaging appearance of metachromatic leukodystrophy?
Diffuse WM disease
T2/FLAIR signal throughout cerebral hemisphere white matter
SPARES SUBCORTICAL U FIBERS
Tigroid appearance - sparing of perivascular white matter
Can show restricted diffusion
What is Alexander disease? What age range?
What is the histologic landmark?
Demyelinating disease seen primarily in infants and adolescence
Increased astrocytic eosinophilic Rosenthal fibers
What are rosenthal fibers seen with?
Alexander disease
What is the imaging pattern of alexander disease?
Where is the involvement in adults?
FRONTAL lobe involvement (later spreads to rest of white matter) T2 FLAIR signal
Also get contrast enhancement in basal ganglia and periventricular regions
Can have periventricular rim - low T2 high T1
Adult pattern - T2 FLAIR signal in the medulla
What is canavan disease? What is the defect?
AR disorder characterized by deficiency of N-acetylaspartase
What is the imaging of canavan disease?
What is the age range and prognosis?
Enlarged brain with spongiform appearance, can have cysts if they are large enough to be seen
Demyelination of ALL white matter including subcortical U fibers
first 6 months of life
Rapidly fatal
What disease has elevated NAA on MRS?
Canavans
What is Krabbe disease? What is the enzyme? What is the age range? What are the clinical signs?
What is the prognosis?
Lysosomal deficiency of galactocerebroside beta-galactosidase
3-6 months
Dysmorphic facies and large ears
Poor, 1-2 years
Ct imaging in krabbe disease?
MR?
CT - increased density on basal ganglia and corona radiate
MRI: nonspecific WM hyperintensities in PERIVENTRICULAR region, hypointense thalami