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LIPID STORAGE

Differential Diagnosis Types Infant Child Child: Ketogenic diet Leigh: SURF1 Adult: HIV Adult: ETFDH Adult: PNPLA2 (NLSDM) Ultrastructure

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Lipid storage: Child

H & E stain Droplets   Multiple, Small & Clear   Most & Largest in Type I fibers

Gomori Trichrome stain

H & E stain

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Sudan black stain

Lipid droplets
  Large lipid droplets in type I muscle fibers.
  Smaller or less abundant lipid droplets in other fibers

Sudan black stain

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Large lipid droplets are in type I muscle fibers. ATPase pH 9.4 stain

Lipid droplets: Less staining than myelin lipid VvG stain

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Internal architecture: Punctate

NADH stain

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Lipid storage: Child on ketogenic diet H & E and GT stains: Multiple, Small, clear regions in muscle fibers Sudan black: Stains many, moderate sized lipid droplets in all muscle fibers AMPDA: Punctate cytoplasm
H & E stain	Gomori trichrome stain
Sudan stain	AMPDA stain

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Lipid storage: Adult with HIV Small, clear vacuoles: H & E, GT & ATPase stains Abnormal internal architecture with a punctate pattern: NADH & SDH Large lipid droplets in type I muscle fibers: Sudan black
H & E stain
Gomori Trichrome stain	ATPase pH 9.4 stain
NADH stain	SDH stain
Sudan black stain

Sudan black stain

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Lipid storage: Infant

Lipid droplets
  Large
  Multiple in each muscle fiber
  Most in type I muscle fibers

Sudan black stain

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Internal architecture: Punctate

NADH stain

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Lipid: Ultrastructure

From: Cory Toth MD

Lipid droplets in muscle fibers: Ultrastructure

From: Oliver Ni

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Lipid Disorders

Lipid storage in a muscle fiber

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Neighboring muscle fibers with no lipid storage

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Muscle fibers in Lipid-storage Myopathy
  Top fiber: Lipid is Abundant
  Bottom fiber: Minor increased lipid

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Muscle fibers in Lipid-storage Myopathy
  Top fiber: Lipid is Abundant
  Bottom right fiber: Minor increased lipid

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Lipid storage: Lipid droplets & closely neighboring Mitochondria

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Neutral Lipid Storage Disease + Myopathy (NLSDM): PNPLA2

From: Yalda Nilipour MD H & E stain

Neutral Lipid Storage

• Lipid storage
  • Lipid droplets: Round; Multiple in each fiber with storage
  • Type 1 & 2 fibers, or More in Type 1
  • Distribution: May be predominantly subsarcolemmal
• Autophagic vacuoles, Rimmed
• Muscle fibers: Varied sizes
  • Small fibers: Round or Angular

From: Yalda Nilipour MD Gomori trichrome stain

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From: Yalda Nilipour MD Oil red O stain

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Lipid myopathies: Classification

4/17/2022