著者

So Okubo Tatsuo Mano Atsushi Sudo Ryoji Goto Satoka Yano Manato Hara Hiroyuki Ishiura Wataru Satake Shintaro Yanagimoto Hidenori Ogata Tatsushi Toda

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.1919-23, (Released:2023-06-28)

参考文献数

12

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Human immunodeficiency virus (HIV)-associated neuropathy is a common complication of HIV infection and has several clinical subtypes. HIV-associated chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a demyelinating neuropathy whose clinical features are known to differ from those of CIDP in the HIV-uninfected population. We herein report a case of CIDP in an HIV-infected patient who was finally diagnosed with anti-neurofascin 155 (NF155) antibody-positive neuropathy. The clinical features, including clinical findings and therapeutic responses, were typical of paranodal antibody-mediated neuropathy. To our knowledge, this is the first case of anti-NF155 antibody-associated neuropathy in an HIV-infected patient.

著者

Nanaka Yamaguchi Tatsuo Mano Ryo Ohtomo Hiroyuki Ishiura M. Asem Almansour Harushi Mori Junko Kanda Yuichiro Shirota Kenichiro Taira Teppei Morikawa Masako Ikemura Yasuo Yanagi Shigeo Murayama Jun Shimizu Yasuhisa Sakurai Shoji Tsuji Atsushi Iwata

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.57, no.23, pp.3459-3462, 2018-12-01 (Released:2018-12-01)

参考文献数

10

被引用文献数

6 20

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Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disease with marked variety in its clinical manifestations. While characteristic neuroimaging and skin biopsy findings are important clues to the diagnosis, autopsy studies are still important for confirming the exact disease features. We herein report the case of a patient who received an antemortem diagnosis of familial NIID with dementia-dominant phenotype that was later confirmed by an autopsy. Our report is the first to document a case of autopsy-confirmed NIID involving both cognitive impairment and sensorimotor neuropathy.

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.