著者

Daichi Umemoto Yohei Kanzawa Tomoko Nakamura Ichizo Nishino Shimpei Mizuki Jun Ohnishi Takahiro Nakajima Naoto Ishimaru Saori Kinami

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.2583-23, (Released:2023-10-06)

参考文献数

19

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We herein report a case of immune-mediated necrotizing myopathy (IMNM) in a patient with microscopic polyangiitis (MPA). A 77-year-old Japanese woman presented with a 2-day history of proximal muscle weakness and myalgia, with elevated serum creatinine kinase (CK) levels. Findings of a muscle biopsy were compatible with IMNM; however, anti-SRP and anti-HMGCR antibodies were negative. She also had peripheral neuropathy with elevated serum MPO-ANCA titers, leading to a diagnosis of MPA. IMNM can be a pathological result of MPA muscle involvement.

著者

Atsuhiko Sugiyama Yosuke Onishi Kimiko Ito Kazumoto Shibuya Keigo Nakamura Fumiko Oda Ichizo Nishino Shigeaki Suzuki Satoshi Kuwabara

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.60, no.16, pp.2671-2675, 2021-08-15 (Released:2021-08-15)

参考文献数

26

被引用文献数

1

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We herein report a case of seronegative immune-mediated necrotizing myopathy (IMNM) concurrent with anti-Kv1.4 and anti-titin antibodies. A 72-year-old Japanese woman presented with a 29-year history of fluctuating high serum creatine kinase (CK) levels followed by intermittent ptosis and respiratory muscle weakness. This case highlights the fact that marked respiratory muscle weakness requiring intubation can be seen in an ambulant patient with IMNM. Marked respiratory muscle weakness, rhabdomyolysis-like acute elevation of CK levels, and anti-striational muscle antibodies may be a characteristic constellation of findings in a distinct subgroup of patients with inflammatory myopathy with myasthenia gravis or similar symptoms.

著者

Akatsuki Kubota Hiroyuki Ishiura Jun Mitsui Kaori Sakuishi Atsushi Iwata Tomotaka Yamamoto Ichizo Nishino Shoji Tsuji Jun Shimizu

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.9588-17, (Released:2017-12-08)

参考文献数

24

被引用文献数

6

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A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a genetic analysis, this method is labor-intensive because of its huge genome size. A 26-year-old male patient presented with mild muscular weakness, joint contractures, and epilepsy. Double immunofluorescence staining of a muscle biopsy specimen showed mislocalization of merosin, and a genetic analysis revealed a homozygous c.818G>A (p.Arg273Lys) mutation in LAMA2. Double immunofluorescence staining and whole exome sequencing were useful for the diagnosis of partial merosin deficiency.