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Neurorad RITE > Leukodystrophies > Flashcards

Leukodystrophies Flashcards

1
Q

What is the physiology of adrenoleukodystrophy?

What are the two types?

What age range?

What are the symptoms?

What is the prognosis?

A

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

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2
Q

What is the enzyme in x linked adrenoleukodystrophy?

A

Lignoceroyl CoA ligase

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3
Q

What is the imaging in adrenoleukodystrophy?

What is seen in MRS?

A

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

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4
Q

What disease gives posterior FLAIR with marginal enhancement?

A

Adrenoleukodystrophy

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5
Q

What is the defect in metachromatic leukodystrophy?

What is the age group?

A

Lysosomal disorder, deficiency of arylsulfatase A

1-2 yo, also has adult forms

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6
Q

Most common inherited leukodystrophy?

A

Metachromatic leukodystrophy

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7
Q

What is the imaging appearance of metachromatic leukodystrophy?

A

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

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8
Q

What is Alexander disease? What age range?

What is the histologic landmark?

A

Demyelinating disease seen primarily in infants and adolescence

Increased astrocytic eosinophilic Rosenthal fibers

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9
Q

What are rosenthal fibers seen with?

A

Alexander disease

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10
Q

What is the imaging pattern of alexander disease?

Where is the involvement in adults?

A

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

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11
Q

What is canavan disease? What is the defect?

A

AR disorder characterized by deficiency of N-acetylaspartase

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12
Q

What is the imaging of canavan disease?

What is the age range and prognosis?

A

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

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13
Q

What disease has elevated NAA on MRS?

A

Canavans

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14
Q

What is Krabbe disease? What is the enzyme? What is the age range? What are the clinical signs?

What is the prognosis?

A

Lysosomal deficiency of galactocerebroside beta-galactosidase

3-6 months

Dysmorphic facies and large ears

Poor, 1-2 years

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15
Q

Ct imaging in krabbe disease?

MR?

A

CT - increased density on basal ganglia and corona radiate

MRI: nonspecific WM hyperintensities in PERIVENTRICULAR region, hypointense thalami

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16
Q

Hypertrophy of the optic nerves and nerves roots in cauda equina suggest what?

A

Krabbe disaese

17
Q

What is pelizaeus merzbacher? What is the mechanism? What are the two types?

A

X linked disorder; lack of myelin specific lipids which impair function of oligodendrocytes

Perivascular myelin is preserved by surrounded by abnormal myelin

Neonatal; rapidly fatal
Classic; young males, protracted course

18
Q

What is the imaging in pelizaeus merzbacher?

What is the difference between metachromatic leukodystrophy?

A

Diffuse high T2/FLAIR spares posterior fossa and brainstem, dark white matter on T1 due to lack of fatty myelin

LOW SIGNAL IN BASAL GANGLIA

PM involves subcortical u fibers

19
Q

Diffuse WM FLAIR signal with dark basal ganglia suggests?

A

Pelizaeus merzbacher

20
Q

Match the enzyme with disease

galactocerebroside beta-galactosidase
N-acetylaspartylase
Arylsufatase A
Lignocerosyl CoA ligase

A

Krabbe
Canavan
Metachromatic leukodystrophy
Adrenoleukodystrophy

Neurorad RITE (24 decks)

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