Hereditary Neuralgic Amyotrophy with a Lesion Distal to the Brachial Plexus on Magnetic Resonance Imaging

A 35-year-old woman first experienced left upper limb weakness at 17 years old, after which it repeatedly recurred and then remitted. She was diagnosed with carpal tunnel syndrome with median nerve hyperintensity by magnetic resonance imaging (MRI). Surgical treatment was ineffective. We suspected h...

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Detalles Bibliográficos
Autores principales: Ueno, Shuntaro, Tateishi, Takahisa, Ueda, Maki, Yorita, Akiko, Sakurada, Naonori, Moritaka, Taiga, Taniwaki, Takayuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484777/
https://www.ncbi.nlm.nih.gov/pubmed/37587058
http://dx.doi.org/10.2169/internalmedicine.0771-22
Descripción
Sumario:A 35-year-old woman first experienced left upper limb weakness at 17 years old, after which it repeatedly recurred and then remitted. She was diagnosed with carpal tunnel syndrome with median nerve hyperintensity by magnetic resonance imaging (MRI). Surgical treatment was ineffective. We suspected hereditary neuralgic amyotrophy because of enlargement distal to the brachial plexus on MRI and administered steroid therapy, after which the weakness improved. Genetic testing revealed a point mutation in SEPT9. Because lesions outside the brachial plexus can be seen in hereditary neuralgic amyotrophy, the diagnosis should be based on typical characteristics and the family history.

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