Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy

Muscle Nerve. 2015 Nov;52(5):895-9. doi: 10.1002/mus.24699. Epub 2015 Jun 18.

Abstract

Introduction: Cylindrical spirals are characteristic muscular inclusions consisting of spiraling double-laminated membranes. They are found in heterogeneous clinical conditions.

Methods: We obtained muscle biopsies from 2 young sisters with severe congenital hypotonia, muscle weakness, and epileptic encephalopathy, and identified cylindrical spirals.

Results: We found an association between congenital encephalomyopathy and cylindrical spirals.

Conclusions: In this morphological and ultrastructural study, we speculate on the origin of these peculiar structures.

Keywords: congenital myopathy; cylindrical spirals; electron microscopy; epileptic encephalomyopathy; inclusions; neuromuscular disorders; neuropathology.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Facies
  • Female
  • Humans
  • Hyperventilation / complications*
  • Hyperventilation / diagnosis*
  • Intellectual Disability / complications*
  • Intellectual Disability / diagnosis*
  • Muscle Weakness / complications*
  • Muscle Weakness / diagnosis*
  • Muscular Diseases / complications
  • Muscular Diseases / diagnosis
  • Sarcolemma / pathology*

Supplementary concepts

  • Pitt-Hopkins syndrome