Palpebral ptosis and muscle fatiguability associated with perineurial cell ensheathment of muscle fibers: A new disease of the neuromuscular junction?

Abstract

Perineurial cell ensheathment of muscle fibers has been reported only in one patient. Here we describe a new case with identical morphologic features and a similar, but milder clinical course characterized by progressive muscle weakness and bilateral palpebral ptosis. EMG examination (including repetitive stimulation) and antibodies against acetylcholine receptors were normal. Muscle biopsy revealed several muscle fibers encircled by stratified rings of homogeneous material in which elongated nuclei were visible; this material was positively stained by antibodies directed at epithelial membrane antigen. On ultrastructural examination these encircling-fiber spirals had the characteristics of perineurial cells. It is not clear yet whether perineurial cell ensheathment of muscle fibers is an occasional feature, or whether it has a pathogenetic role in the clinical picture of both cases. The perineurial sheaths might alter the correct neuromuscular transmission mimicking a myasthenia-like disease, either by interfering with the neuromuscular junction, or by changing the microenvironment, and, thus, altering the general excitability of the muscle fibers.