Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center

Advanced Search

Main menu

  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • Neurology Video Journal Club
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • COVID-19
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Null Hypothesis
    • Patient Pages
    • Topics A-Z
    • Translations
  • Podcast
  • CME
  • About
    • About the Journals
    • Contact Us
    • Editorial Board
  • Authors
    • Submit a Manuscript
    • Author Center
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

User menu

  • Subscribe
  • My Alerts
  • Log in

Search

  • Advanced search
Neurology
Home
The most widely read and highly cited peer-reviewed neurology journal
  • Subscribe
  • My Alerts
  • Log in
Site Logo
  • Home
  • Latest Articles
  • Current Issue
  • Past Issues
  • Residents & Fellows

Share

May 17, 2022; 98 (20) Resident & Fellow Section

Teaching Video NeuroImage: Congenital Hemidystonia–Hemi-midbrain Atrophy Syndrome

View ORCID ProfileKanchana Soman Pillai, Mahendra Thakre, Dnyaneshwar Asole, Anil Venkitachalam, Uma Sundar, Ashwini P. Sankhe, View ORCID ProfileAnagha R. Joshi, Vikrant P. Firke
First published March 29, 2022, DOI: https://doi.org/10.1212/WNL.0000000000200513
Kanchana Soman Pillai
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Kanchana Soman Pillai
Mahendra Thakre
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Dnyaneshwar Asole
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Anil Venkitachalam
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Uma Sundar
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ashwini P. Sankhe
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Anagha R. Joshi
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for Anagha R. Joshi
Vikrant P. Firke
From the Department of Neurology (K.S.P., M.T., D.A., A.V., U.S.) and Department of Radiology (A.P.S., A.R.J., V.P.F.), Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Teaching Video NeuroImage: Congenital Hemidystonia–Hemi-midbrain Atrophy Syndrome
Kanchana Soman Pillai, Mahendra Thakre, Dnyaneshwar Asole, Anil Venkitachalam, Uma Sundar, Ashwini P. Sankhe, Anagha R. Joshi, Vikrant P. Firke
Neurology May 2022, 98 (20) 860-861; DOI: 10.1212/WNL.0000000000200513

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
Permissions

Make Comment

See Comments

Downloads
924

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

An 18-year-old man with normal birth and development and a negative family history complained of nonprogressive clumsiness and posturing of his left hand since early childhood. His left limbs were shorter than his right but showed no evidence of atrophy (eFigure 1, A-C, links.lww.com/WNL/B902). Examination revealed dystonic posturing with mirror dystonia of the left hand and subtle mirror movements in his feet (Video 1). MRI of the brain showed right hemiatrophy of the midbrain, bilateral cortical activation with unilateral finger taps on fMRI, and normal corticospinal tract decussation (Figure, A-F). Levodopa response was present, suggesting dopaminergic denervation due to a congenital hemi-midbrain insult.1 This case represents hemidystonia-hemiatrophy syndrome.2 Subtle limb shortening and mirror dystonia can aid in diagnosis.

Video 1

Video showing the main examination findings. Dystonic posturing of the left hand with mirror dystonia and contralateral overflow dystonia in the right hand. Very subtle mirror dystonia in the left toes and mirror movements in the right foot. No bradykinesia. Normal extraocular movements. No other involuntary movements.Download Supplementary Video 1 via http://dx.doi.org/10.1212/200513_Video_1

Figure
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure MRI of the Brain (T1 and T2 FLAIR), fMRI, and MR Tractography Findings

(A–C) Right-sided hemiatrophy of the midbrain with slight right hemispheric white matter volume loss. (D and E) Bilateral cortical activation on fMRI with right and left finger taps, respectively. (F) Magnetic resonance tractography shows normal decussation of corticospinal tracts.

Study Funding

No targeted funding reported.

Disclosure

The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.

Appendix Authors

Table

Footnotes

  • Go to Neurology.org/N for full disclosures.

  • Submitted and externally peer reviewed. The handling editor was Whitley Aamodt, MD, MPH.

  • Teaching slides: links.lww.com/WNL/B902.

  • Received October 5, 2021.
  • Accepted in final form February 28, 2022.
  • © 2022 American Academy of Neurology

References

  1. 1.↵
    1. Vidailhet M,
    2. Dupel C,
    3. Lehéricy S, et al
    . Dopaminergic dysfunction in midbrain dystonia: anatomoclinical study using 3-dimensional magnetic resonance imaging and fluorodopa F 18 positron emission tomography. Arch Neurol. 1999;56(8):982-989.
    OpenUrlCrossRefPubMed
  2. 2.↵
    1. He C,
    2. Zhang P,
    3. Li Y, et al.
    Hemiparkinsonism or hemidystonia with hemiatrophy Syndrome: a case series with follow-up. Front Neurosci. 2020;14:64.
    OpenUrl

Disputes & Debates: Rapid online correspondence

No comments have been published for this article.
Comment

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.

More guidelines and information on Disputes & Debates

Compose Comment

More information about text formats

Plain text

  • No HTML tags allowed.
  • Web page addresses and e-mail addresses turn into links automatically.
  • Lines and paragraphs break automatically.
Author Information
NOTE: The first author must also be the corresponding author of the comment.
First or given name, e.g. 'Peter'.
Your last, or family, name, e.g. 'MacMoody'.
Your email address, e.g. higgs-boson@gmail.com
Your role and/or occupation, e.g. 'Orthopedic Surgeon'.
Your organization or institution (if applicable), e.g. 'Royal Free Hospital'.
Publishing Agreement
NOTE: All authors, besides the first/corresponding author, must complete a separate Publishing Agreement Form and provide via email to the editorial office before comments can be posted.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.

Vertical Tabs

You May Also be Interested in

Back to top
  • Article
    • Study Funding
    • Disclosure
    • Appendix Authors
    • Footnotes
    • References
  • Figures & Data
  • Info & Disclosures
Advertisement

Related Articles

  • No related articles found.

Topics Discussed

  • Dystonia
  • Developmental disorders
  • MRI
  • fMRI
  • Parkinson's disease/Parkinsonism

Alert Me

  • Alert me when eletters are published
Neurology: 99 (6)

Articles

  • Ahead of Print
  • Current Issue
  • Past Issues
  • Popular Articles
  • Translations

About

  • About the Journals
  • Ethics Policies
  • Editors & Editorial Board
  • Contact Us
  • Advertise

Submit

  • Author Center
  • Submit a Manuscript
  • Information for Reviewers
  • AAN Guidelines
  • Permissions

Subscribers

  • Subscribe
  • Activate a Subscription
  • Sign up for eAlerts
  • RSS Feed
Site Logo
  • Visit neurology Template on Facebook
  • Follow neurology Template on Twitter
  • Visit Neurology on YouTube
  • Neurology
  • Neurology: Clinical Practice
  • Neurology: Genetics
  • Neurology: Neuroimmunology & Neuroinflammation
  • Neurology: Education
  • AAN.com
  • AANnews
  • Continuum
  • Brain & Life
  • Neurology Today

Wolters Kluwer Logo

Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X

© 2022 American Academy of Neurology

  • Privacy Policy
  • Feedback
  • Advertise