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

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

Author information

1
UPMC Université Paris 06, Institut National de la Santé et de la Recherche Médicale UMR 974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, Sorbonne Universités, 47 Boulevard de l'Hôpital, 75013, Paris, France.
2
Department of Neurology-Neuromuscular Disorders Centers, Buenos Aires Italian Hospital, Buenos Aires, Argentina.
3
Centre de Référence Caribéen des Maladies neuromusculaire et Neurologiques Rares, CHU de Martinique, Martinique.
4
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

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

PMID:
25959956
DOI:
10.1002/mus.24699
[Indexed for MEDLINE]

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