Neuromuscul Disord. 2017 Feb;27(2):183-184. doi: 10.1016/j.nmd.2016.11.007. Epub 2016 Nov 18.

Granuloma formation in a patient with GNE myopathy: A case report.


We report a patient with GNE myopathy with a homozygous mutation (c.1505-4G>A) in GNE gene. The patient recognized progressive weakness of extremities at age 60. Neurological examination at age 65 revealed severe weakness and atrophy in the tibialis anterior muscles and distal predominant moderate weakness in the extremities. Muscle biopsy performed at age 65 showed myopathic changes with rimmed vacuoles, and the noteworthy finding was non-caseating epithelioid cell granuloma formation surrounded by numerous inflammatory cells. Granuloma formation has never been reported in patients with GNE myopathy. We presume that aggregation of abnormal proteins and autophagy dysregulation in the myocytes of GNE myopathy could induce granuloma formation.



PMID:  27919547