Kosin Med J.  2021 Dec;36(2):206-210. 10.7180/kmj.2021.36.2.206.

Predominant Myofibrillar Pathology with Preserved Sarcolemmal Aquaporin 4 Immunoreactivity in a Patient with Neuromyelitis Optica-Associated HyperCKemia

• Huh SY
• Shin JH
• Park YE
• Kim HJ
• Kim DS

• KMID: 2524667
• DOI: http://doi.org/10.7180/kmj.2021.36.2.206

Abstract

A 49-year-old man developed recurrent myalgia and hyperCKemia during acute attacks of neuromyelitis optica. Muscle biopsy was performed, and the pathological findings were analyzed. Predominant myofibrillar pathology was observed, which constitutes a unique finding that has not been reported before. This case result shows that neuromyelitis optica-associated hyperCKemia can produce variable pathologic phenotypes. Further studies are needed to elucidate the relationship between myofibril destruction and aquaporin 4 autoimmunity.

Keyword

Anti-aquaporin 4 autoantibody; Myopathy; Neuromyelitis optica

Figure

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  Fig. 1 The patient’s muscle biopsy (A–L) and a normal control for comparison (M–P). Light microscopy findings of hematoxylin-eosin staining (A), modified Gomori-trichrome staining (B), nicotine amide dehydrogenase staining (C), and adenosine triphosphatase staining at pH 4.6 (D) demonstrate variability in fiber size and irregular sarcoplasmic structures (asterisks). Electron microscopic findings show destruction of myofibrillar structures, with loss of myofilament density on the left lower side (E), disorganized Z-disk alignment except for the perinuclear area (F), numerous scattered electron-dense materials (G), and cytoplasmic body formation (H). The immunohistochemical findings include increased immunoreactivity against human IgG-Fc (I), major histocompatibility complex class I (J), and C5b-9 antibody (L), but sarcolemmal AQP4 is well preserved (K) in the patient compared with a normal control (M–P).

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