Clinicopathological features of eight cases with tubular aggregate myopathy / 中华神经科杂志

ABSTRACT

Objective To investigate the clinicopathological features of tubular aggregate myopathy.Methods Eight patients as experimental group were diagnosed with tubular aggregate myopathy in Department of Neurology,People' s Liberation Army General Hospital,between March 2000 and March 2013.The data were retrospectively analyzed.Enzyme histochemical techniques and electron microscopy were taken to observe the muscle structures.Results The detection rate of tubular aggregate was 0.374％ (8/2 137).All of the 8 patients with tubular aggregate myopathy were male.Five patients presented with episodes of muscle weakness,while 3 patients presented chronic progressive muscle weakness.The main clinical features of all patients were muscle weakness.The creatine kinase level was mildly elevated in 4 patients,while it was normal in the other 4 patients.Electromyogram showed myogenic damage in 5 patients and normal in 3 patients.All of the 8 patients denied family history.By light microscopy,hematoxylin-eosin staining showed that tubular aggregates were multiple basophilic subsarcolemmal substance.Tubular aggregate stained red with modified Gomori trichrome stain,reacted intensely for nicotinamide adenine dinucleotidetetrazolium reductase,and remained unstained on oil red O,periodic acid Schiff,sudan black B,acid phosphatas,adenosine triphosphatase.By electron microscopy,tubular aggregates were densely packed tubules predominantly in the subsarcolemmal region.Conclusion Enzyme histochemical staining and electron microscopy show special features of tubular aggregate myopathy,are the critical techniques for the diagnosis of the disease.