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

Abstract

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.

• Authors: Shuntaro Ueno, Takahisa Tateishi, Maki Ueda, Akiko Yorita, Naonori Sakurada, Taiga Moritaka, Takayuki Taniwaki
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 62 Issue 16 Pg. 2407-2411 ( 2023) ISSN: 1349-7235 [Electronic] Japan
• PMID: 37587058 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cytoskeletal Proteins

Topics

• Female
• Humans
• Adult
• Adolescent
• Brachial Plexus Neuritis (diagnostic imaging)
• Magnetic Resonance Imaging
• Carpal Tunnel Syndrome (diagnostic imaging)
• Cytoskeletal Proteins
• Brachial Plexus (diagnostic imaging)