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Cylindrical Spirals ³

• General
  • Reported in 29 patients
  • Male > Female
  • Adult > Children
• Pathology
  • Derive primarily from sarcoplasmic reticulum
  • Location
    • Subsarcolemmal > Central: Parallel to long fiber axis
    • Type 2B fibers
  • Histochemical Staining: Similar to Tubular aggregates
    • Gomori trichrome: Red
    • AMPDA: Dark
    • NADH: Mild
    • Menadione α-glycerophosphate
    • Negative: SDH & COX
  • Protein contents ²
    • SAR1 : Endoplasmic exit sites
    • SERCA1: Longitudinal sarcoplasmic reticulum
    • No DHPR or RYR1
  • Ultrastructure
    • Spiral membranous lamellae
    • Parallel arrays
      • Tightly packed
      • Cylinders
      • Trilamellar
      • Form multiple layers: 3 to 35
      • Location: Sarcoplasm, Subsarcolemmal
    • Central cytoplasmic core
    • May be
      • Continuous with: Tubules or Vesicles
      • Associated with: Tubular aggregates
    • Different from
      • Concentric laminated bodies in D-2-hydroxyglutaric aciduria
      • Mitochondrial concentric cristae
      • Concentric membranous whorls
• Disease associations: Not specific
  • Myotonia, Cramps, Myalgias
    • Epidemiology: 1 family
    • Inheritance: Dominant
    • Clinical
      • Percussion myotonia
      • Cramps
      • Stiffness: Posteffort
      • Myotonic lid lag
    • Laboratory
      • Muscle: Cylindrical spirals
  • Congenital weakness & Epileptic encephalopathy ¹
    • Epidemiology: 2 French-Antillean & Moroccan sisters
    • Clinical
      • Birth: Hypotonia
      • Weakness
      • Psychomotor delay
      • Epilepsy
    • Laboratory
      • Serum CK: Mildly high
      • Muscle: Cylindrical spirals
  • Denervation: Most cases
  • Melorheostosis
  • Behr syndrome
  • Mitochondrial myopathy
  • Myalgias
  • Asymptomatic high CK

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Images from: Chunyu (Hunter) Cai

H&E stain

Gomori trichrome stain

AMPDA stain

NADH stain

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References
1. Muscle Nerve 2015;52:895-899
2. J Neuropathol Exp Neurol 2016;75:1171-1178
3. J Neurol Sci 2023;451:120734

7/23/2023