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Hirayama disease: Nosological classification and neuroimaging clues for diagnosis
Hirayama disease (HD) is a rare, benign, and nonprogressive motor neuron disease (MND) affecting the upper limbs. It usually presents with weakness and amyotrophy in a single upper extremity with an insidious onset between adolescence and the third decade of life. Since its description in 1959, HD h...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544790/ https://www.ncbi.nlm.nih.gov/pubmed/35394668 http://dx.doi.org/10.1111/jon.12995 |
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author | Iacono, Salvatore Di Stefano, Vincenzo Gagliardo, Andrea Cannella, Roberto Virzì, Valentina Pagano, Sonia Lupica, Antonino Romano, Marcello Brighina, Filippo |
author_facet | Iacono, Salvatore Di Stefano, Vincenzo Gagliardo, Andrea Cannella, Roberto Virzì, Valentina Pagano, Sonia Lupica, Antonino Romano, Marcello Brighina, Filippo |
author_sort | Iacono, Salvatore |
collection | PubMed |
description | Hirayama disease (HD) is a rare, benign, and nonprogressive motor neuron disease (MND) affecting the upper limbs. It usually presents with weakness and amyotrophy in a single upper extremity with an insidious onset between adolescence and the third decade of life. Since its description in 1959, HD has been known under several names and eponyms in Europe and in Asian countries probably due to its heterogeneous clinical features. Thus, the unclear nosological classification makes challenging the differential diagnosis between HD and other neuromuscular conditions, such as MNDs. However, apart from the nosological difficulties and the lack of evidence‐based guideline for diagnosis, the neuroimaging is the mainstay for the diagnosis of HD. Indeed, the specific findings on cervical flexion MRI usually lead to a prompt diagnosis. Here, we reviewed the nosological classifications of HD and its neuroimaging features. Also, we report a case of a 18‐year‐old boy who presented to our Clinic complaining of muscle weakness of the left distal upper limb without other neurological signs. The cervical MRI, in the neutral position, revealed a high T2 signal intensity in the C5‐C7 cervical myelomeres as well as the loss of cervical lordosis, whereas, during neck flexion, it showed the anterior displacement of the posterior dura ad the post‐gadolinium T1‐weighted imaging enhancement of the posterior epidural plexus. These findings are typical for HD allowing the diagnosis as well as the differential diagnosis from other neuromuscular diseases. |
format | Online Article Text |
id | pubmed-9544790 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95447902022-10-14 Hirayama disease: Nosological classification and neuroimaging clues for diagnosis Iacono, Salvatore Di Stefano, Vincenzo Gagliardo, Andrea Cannella, Roberto Virzì, Valentina Pagano, Sonia Lupica, Antonino Romano, Marcello Brighina, Filippo J Neuroimaging Review Articles Hirayama disease (HD) is a rare, benign, and nonprogressive motor neuron disease (MND) affecting the upper limbs. It usually presents with weakness and amyotrophy in a single upper extremity with an insidious onset between adolescence and the third decade of life. Since its description in 1959, HD has been known under several names and eponyms in Europe and in Asian countries probably due to its heterogeneous clinical features. Thus, the unclear nosological classification makes challenging the differential diagnosis between HD and other neuromuscular conditions, such as MNDs. However, apart from the nosological difficulties and the lack of evidence‐based guideline for diagnosis, the neuroimaging is the mainstay for the diagnosis of HD. Indeed, the specific findings on cervical flexion MRI usually lead to a prompt diagnosis. Here, we reviewed the nosological classifications of HD and its neuroimaging features. Also, we report a case of a 18‐year‐old boy who presented to our Clinic complaining of muscle weakness of the left distal upper limb without other neurological signs. The cervical MRI, in the neutral position, revealed a high T2 signal intensity in the C5‐C7 cervical myelomeres as well as the loss of cervical lordosis, whereas, during neck flexion, it showed the anterior displacement of the posterior dura ad the post‐gadolinium T1‐weighted imaging enhancement of the posterior epidural plexus. These findings are typical for HD allowing the diagnosis as well as the differential diagnosis from other neuromuscular diseases. John Wiley and Sons Inc. 2022-04-08 2022 /pmc/articles/PMC9544790/ /pubmed/35394668 http://dx.doi.org/10.1111/jon.12995 Text en © 2022 The Authors. Journal of Neuroimaging published by Wiley Periodicals LLC on behalf of American Society of Neuroimaging. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Review Articles Iacono, Salvatore Di Stefano, Vincenzo Gagliardo, Andrea Cannella, Roberto Virzì, Valentina Pagano, Sonia Lupica, Antonino Romano, Marcello Brighina, Filippo Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title | Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title_full | Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title_fullStr | Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title_full_unstemmed | Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title_short | Hirayama disease: Nosological classification and neuroimaging clues for diagnosis |
title_sort | hirayama disease: nosological classification and neuroimaging clues for diagnosis |
topic | Review Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544790/ https://www.ncbi.nlm.nih.gov/pubmed/35394668 http://dx.doi.org/10.1111/jon.12995 |
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