Tubular Aggregate Myopathy: A Case Report

Abstract

We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori' s trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers.

Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy

“…This is the first case of anti-PD-1 monoclonal-antibody-associated myopathy that showed tubular aggregates on muscle pathology. Tubular aggregates are found in cases of periodic paralysis, congenital myasthenia, and myopathy due to abnormal store-operated Ca 2+ channels (12), but the present case had neither clinical manifestations nor a family history suggesting any of these conditions. The relationship between tubular aggregates and anti-PD-1 monoclonal antibody therefore remains unclear.…”

Familial myopathy with tubular aggregates associated with abnormal pupils

“…1 Their associations are nonspecific in certain conditions like periodic paralysis, but they form a major part of the pathology in familial limb girdle myasthenia and gyrate atrophy of the choroid and retina. 3,4 We report a familial syndrome with tubular aggregate myopathy and pupillary abnormalities compatible with an autosomal dominant inheritance. The majority show an autosomal dominant pattern of inheritance.…”