Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy.

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.