Leukodystrophies

Question 1

Pathologic findings of metachromatic leukodystrophy:

Answer 1

Sulfatide deposits stain with cresyl violet and toluidine blue in lysosomes and macrophages

Question 2

Metachromatic leukodystrophy has deficiency of:

Answer 2

Arylsulfatase A

Question 3

What findings will be seen in lab work in meta chromatic?

Answer 3

Sulfatides in urine

Question 4

What type of leukodystrophy is metachromatic leukodystrophy?

Answer 4

Progressive demyelinating peripheral neuropathy → lost reflexes+Babinski

Question 5

MRI findings of metachromatic leukodystrophy

Answer 5

Symmetric demyelination sparing U fibers

Question 6

Neonatal adrenoleukodystrophy is a disorder of what cell?

Answer 6

Perioxisomes

Question 7

What labs will be elevated in adrenoleukodystrophy?

Answer 7

High VLCFA, phytanic acid and pipecolic acid

Question 8

Symptoms of adrenoleukodystrophy:

Answer 8

Hypotonia, seizures, blind and deaf

Question 9

Gene mutation in adrenoleukodystrophy:

Answer 9

ABCD1 (ATP binding cassette ptn)

Question 10

What symptoms does childhood cerebral form of adrenoleukodystrophy have?

Answer 10

Onset 4-6 years, school issues, ADHD → spasticity and seizures → high VLCFA

Question 11

What specific disorder is associated with adrenoleukodystrophy?

Answer 11

Addison’s disease (adrenal insufficiency)

Adrenomyeloneuropathy: onset 3rd decade, spastic paraparesis

Question 12

MRI findings for adrenoleukodystrophy:

Answer 12

Demyelination posteriorly

Question 13

Mode of inheritance of deficiency in Alexander’s disease:

Answer 13

Autosomal dominant
GFAP deficiency causing hypomyelinating leukoencephalopathy

Question 14

What head size is characteristics of Alexander’s disease?

Answer 14

Megalencephaly

Question 15

What are the pathological findings for Alexander’s disease?

Answer 15

Rosenthal fibers

Question 16

MRI findings for Alexander’s disease

Answer 16

Anterior demyelination

Question 17

What is the deficiency in Canavan disease?

Answer 17

Aspartoacylase deficiency → hydrolyzes NAA to aspartic acid and acetic acid

Question 18

What are the pathological findings for Canavan disease?

Answer 18

Spongy degeneration

Question 19

MRI findings for Canavan disease:

Answer 19

Diffuse white matter degeneration and FLAIR hyperintensity

Question 20

Mode of inheritance for Pelizaeus Merzbacher:

Answer 20

X-linked recessive

Question 21

What eye finding is seen in Pelizaeus Merzbacher?

Answer 21

Pendular nystagmus
Optic atrophy

Question 22

Symptoms of Pelizaeus Merzbacher:

Answer 22

Head nodding tremor
Spasticity and optic atrophy
Hypomyelinating encephalopathy

Question 23

MRI findings for Pelizaeus Merzbacher:

Answer 23

Symmetric dysmyelination→ tiger print (areas of normal neurons and myelin in the middle of abnormal white matter)