Neuromuscular

DYSMYELINATION
Metachromatic Leukodystrophy (MLD) (& Krabbe)

Histochemistry
Myelin sheath thin: TB; EM
Onion bulbs
Prismatic inclusions (Macrophages)
Schwann cells
  Debris
  Molecular features
Tuffstone bodies

Metachromatic Leukodystrophy (MLD)


Hypomyelinated axons


Metachromatic Leukodystrophy (MLD)
  Myelinating Schwann cells
    Contain cytoplasmic particulate & clear debris.

  Axons surrounded by
    Thin myelin sheaths & Onion bulbs, small.

Myelinating Schwann cells
  Contain particulate & clear debris in cytoplasm
Onion Bulbs: Small







MLD Histochemistry



H&E stain
Endoneurium
  Pale
  Increased space between axons

H&E stain


Gomori trichrome stain
Reduced staining for myelinated axons

Gomori trichrome stain

Larger axons
  Increased space between axons

VvG stain

Larger axons: Normal to mildly reduced numbers
Smaller axons: Reduced numbers in some endoneurial areas

Schwann Cell Antigens

Bungner Bands (Yellow)
  Contain both P0 & NCAM
  Scattered in endoneurium


NCAM stain (Green)
P0 stain (Red)

Neurofilament stain (Green)
NCAM stain (Red)

Neurofilament stain (Green)
MBP stain (Red)

Neurofilament stain (Green)
P0 stain (Red)

P0 stain (Green)
MBP stain (Red)

MLD: Reduced or Absent Myelin Sheath

Unmyelinated axons: Surrounded by Schwann cells

Axons with thin, or folded, myelin sheath
Onion bulb: Small, single layer of basal lamina around axons & Schwann cells

MLD: Schwann cell inclusions

Axons: Moderately or Severely thin myelin sheath
Schwann cells: Contain myeloid debris in secondary lysosomes

Schwann cells: Cytoplasm contains Tuffstone inclusions & Myeloid debris

Schwann cells with Cytoplasmic inclusions

MLD: Tuffstone Bodies

Tuffstone bodies
  Electron dense: Sharply demarcated
  Most common in Schwann cells of myelinated & unmyelinated axons
  Contain
    Irregularly oriented granular material
    Areas with 5.8 nm periodicity
    Peripheral lamellae oriented perpendicular to surface
    Vacuoles: Electon lucent

Tuffstone bodies

MLD: Macrophages

Prismatic ("Herringbone") inclusions
  Commonly in endoneurial macrophages
  Stacks of lamellar disks

MLD: Muscle

Muscle fiber sizes: Mild variation; No denervation

Muscle fiber types
  Fiber type grouping: Mild
  Type 2C: Increased numbers

Krabbe disease: Globoid cells


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6/21/2017