Leukodystrophies Flashcards
Pathologic findings of metachromatic leukodystrophy:
Sulfatide deposits stain with cresyl violet and toluidine blue in lysosomes and macrophages
Metachromatic leukodystrophy has deficiency of:
Arylsulfatase A
What findings will be seen in lab work in meta chromatic?
Sulfatides in urine
What type of leukodystrophy is metachromatic leukodystrophy?
Progressive demyelinating peripheral neuropathy → lost reflexes+Babinski
MRI findings of metachromatic leukodystrophy
Symmetric demyelination sparing U fibers
Neonatal adrenoleukodystrophy is a disorder of what cell?
Perioxisomes
What labs will be elevated in adrenoleukodystrophy?
High VLCFA, phytanic acid and pipecolic acid
Symptoms of adrenoleukodystrophy:
Hypotonia, seizures, blind and deaf
Gene mutation in adrenoleukodystrophy:
ABCD1 (ATP binding cassette ptn)
What symptoms does childhood cerebral form of adrenoleukodystrophy have?
Onset 4-6 years, school issues, ADHD → spasticity and seizures → high VLCFA
What specific disorder is associated with adrenoleukodystrophy?
Addison’s disease (adrenal insufficiency)
Adrenomyeloneuropathy: onset 3rd decade, spastic paraparesis
MRI findings for adrenoleukodystrophy:
Demyelination posteriorly
Mode of inheritance of deficiency in Alexander’s disease:
Autosomal dominant
GFAP deficiency causing hypomyelinating leukoencephalopathy
What head size is characteristics of Alexander’s disease?
Megalencephaly
What are the pathological findings for Alexander’s disease?
Rosenthal fibers
MRI findings for Alexander’s disease
Anterior demyelination
What is the deficiency in Canavan disease?
Aspartoacylase deficiency → hydrolyzes NAA to aspartic acid and acetic acid
What are the pathological findings for Canavan disease?
Spongy degeneration
MRI findings for Canavan disease:
Diffuse white matter degeneration and FLAIR hyperintensity
Mode of inheritance for Pelizaeus Merzbacher:
X-linked recessive
What eye finding is seen in Pelizaeus Merzbacher?
Pendular nystagmus
Optic atrophy
Symptoms of Pelizaeus Merzbacher:
Head nodding tremor
Spasticity and optic atrophy
Hypomyelinating encephalopathy
MRI findings for Pelizaeus Merzbacher:
Symmetric dysmyelination→ tiger print (areas of normal neurons and myelin in the middle of abnormal white matter)
