Congenital myopathies – centronuclear myopathies

A 42-year-old male presented with the complaint of acute onset double vision in our emergency room. Examination revealed a tall stature, impaired eye movements in all directions, in particular upwards and left side abduction, the latter likely the cause of the acute complaints, and mild symmetrical ptosis compensated by permanent frontalis muscle contraction. As no evidence for myasthenic variability was found and CK was elevated 300 – 550 U/l (ULN 190), vastus lateralis muscle biopsy was performed under suspicion of atypical chronic progressive external ophthalmoplegia (CPEO).

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: C. von Landenberg, M. Winkler, A. Abicht, D. Wolf, C. Kornblum, J. Reimann Source Type: research