Metachromatic Leukodystrophy

• Etiology:
  — Progressive leukoencephalopathy
  — Autosomal recessive lysosomal storage disorder due to arylsulfatase-A deficiency with resultant accumulation of sulfatides which are membrane lipids
  — Accumulation of sulfatides in oligodendroglia and Schwann cells may lead to their ultimate death and myelin instability
  — Abnormal accumulation of sulfatide in the gallbladder leads to a proliferative response in the gallbladder epithelium
• Imaging MRI:
  — Butterfly pattern starts at core of centrum semiovale sparing periventricular white matter and subcortical U-fibers
  — Ttigroid or leopard patterns due to relative sparing of perivenular myelin
  — T1WI: Bilateral symmetric and confluent periventricular white matter hypointensity = butterfly pattern
  — T2WI: Bilateral symmetric and confluent periventricular white matter hyperintensity = butterfly pattern
• DDX:
• Complications:
• Treatment:
• Clinical:
  — Most common leukodystrophy
  — Late infantile (most common) and juvenile and adult forms
  — 40% present with infantile subtype at 6 months old – 3 years old with unsteady gait due to muscle hypotonia
  — 40% present with juvenile subtype at 4-16 years old

Radiology Cases of Metachromatic Leukodystrophy