A 51-year-old man had slowly progressive muscle wasting, weakness, and paresthesia of the right upper limb since age 21 years. His deceased mother had a single episode of painful right upper limb paresis. Examination showed severe amyotrophy and hypoesthesia of the right upper limb. Neuroimaging studies disclosed marked involvement of the right brachial plexus (figures 1 and 2). Neurophysiologic studies disclosed severe right brachial plexopathy. Gene panel for inherited neuropathies disclosed pathogenic variant c.278C>T (p.Ser93Phe) in the SEPT9 gene,1,2 confirming the diagnosis of hereditary neuralgic amyotrophy.1,2 SEPT9-related disorders can present as autosomal dominant recurrent or progressive hypertrophic brachial plexus neuropathy.1,2
Evaluation shows marked amyotrophy of the right upper limb (A and B), mainly in the scapular girdle (C–E), arm, and (F) minor extent in the forearm and hand.
(A) Chest CT scan shows marked global amyotrophy and liposubstitution (wide red arrows) of the right scapular girdle muscle groups. (B) Coronal MRI of the brachial plexus shows asymmetric hyperintense signal and hypertrophy of right brachial plexus anterior roots, trunks, and cords in short tau inversion recovery sequence (red arrows).
Study funding
No target funding reported.
Disclosure
The authors report no relevant disclosures. Go to Neurology.org/N for full disclosures.
Acknowledgment
Full consent was obtained from the patient for the case report. This study was approved by our institutional ethics committee (CEP-UNIFESP/HSP).
Appendix Authors
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides links.lww.com/WNL/B101
- © 2020 American Academy of Neurology
Disputes & Debates: Rapid online correspondence
REQUIREMENTS
If you are uploading a letter concerning an article:
You must have updated your disclosures within six months: http://submit.neurology.org
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.