Skip to main content
Advertisement
  • Neurology.org
  • Journals
    • Neurology
    • Clinical Practice
    • Genetics
    • Neuroimmunology & Neuroinflammation
    • Education
  • Online Sections
    • COVID-19
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • Topics A-Z
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • 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
    • COVID-19
    • Inclusion, Diversity, Equity, Anti-racism, & Social Justice (IDEAS)
    • Innovations in Care Delivery
    • Practice Buzz
    • Practice Current
    • Residents & Fellows
    • Without Borders
  • Collections
    • Topics A-Z
    • Disputes & Debates
    • Health Disparities
    • Infographics
    • Patient Pages
    • Null Hypothesis
    • 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

April 02, 2019; 92 (14) Resident & Fellow Section

Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain

Himadri Patel, Ashutosh Kumar, Gerald Raymond, Gayatra Mainali
First published April 1, 2019, DOI: https://doi.org/10.1212/WNL.0000000000007234
Himadri Patel
From Penn State College of Medicine (H.P.); and Department of Pediatric Neurology (A.K., G.R., G.M.), Penn State Hershey Medical Center, Hershey, PA.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Ashutosh Kumar
From Penn State College of Medicine (H.P.); and Department of Pediatric Neurology (A.K., G.R., G.M.), Penn State Hershey Medical Center, Hershey, PA.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Gerald Raymond
From Penn State College of Medicine (H.P.); and Department of Pediatric Neurology (A.K., G.R., G.M.), Penn State Hershey Medical Center, Hershey, PA.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Gayatra Mainali
From Penn State College of Medicine (H.P.); and Department of Pediatric Neurology (A.K., G.R., G.M.), Penn State Hershey Medical Center, Hershey, PA.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Full PDF
Citation
Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
Himadri Patel, Ashutosh Kumar, Gerald Raymond, Gayatra Mainali
Neurology Apr 2019, 92 (14) e1665-e1666; DOI: 10.1212/WNL.0000000000007234

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
508

Share

  • Article
  • Figures & Data
  • Info & Disclosures
Loading

An 8-month-old boy presented with developmental delay, diffuse hypotonia, hypoplastic left heart syndrome, undescended testes, neonatal thrombocytopenia, and unusual facies. Chromosome microarray showed an 11q23-11q24 deletion, consistent with Jacobsen syndrome (JS).

Initial head MRI at 18 months showed severe diffuse hypomyelination of cerebral white matter believed to be consistent with leukodystrophy (figure 1). Repeat MRI at 3 years of age showed less extensive hypomyelination (figure 2). The child, while still delayed, had made some developmental progression.

Figure 1
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 1 MRI brain at 18 months of age

Axial fluid-attenuated inversion recovery MRI shows white matter hypomyelination of cerebral as well as deep white matter consistent with leukodystrophy.

Figure 2
  • Download figure
  • Open in new tab
  • Download powerpoint
Figure 2 MRI brain at 3 years of age

Axial fluid-attenuated inversion recovery MRI shows improved degree of white matter myelination.

While delayed myelination has been reported, there are few reports of neuroimages. Awareness of the MRI presentation of JS is crucial to prevent unnecessary evaluation in this condition.1,2

Study funding

No targeted funding reported.

Disclosure

H. Patel and A. Kumar report no disclosures relevant to the manuscript. G. Raymond is a consultant for the Department of Health and Human Services, Minoryx (Barcelona), Bluebird bio (Cambridge, MA), and Viking Therapeutics (San Diego, CA), and previously served as a consultant for Shire and Vertex (Boston, MA). G. Mainali reports 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. 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/A848

  • © 2019 American Academy of Neurology

References

  1. 1.↵
    1. Favier R,
    2. Akshoomoff N,
    3. Mattson S,
    4. Grossfeld P
    . Jacobsen syndrome: advances in our knowledge of phenotype and genotype. Am J Med Genet C Semin Med Genet 2015;169:239–250.
    OpenUrl
  2. 2.↵
    1. Yu F,
    2. Carter JE,
    3. Bazan C III.
    . A case of Jacobsen syndrome with multifocal white matter lesions. Clin Imaging 2016;40:705–706.
    OpenUrl

Disputes & Debates: Rapid online correspondence

  • Author response: Teaching Neuroimages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
    • Himadri Patel, Medical Student, Penn State College of Medicine
    • Ashutosh Kumar, Pediatric Neurologist, Penn State Hershey Medical Center
    • Gerald Raymond, Pediatric Neurologist, Penn State Hershey Medical Center
    • Gayatra Mainali, Pediatric Neurologist, Penn State Hershey Medical Center
    Submitted May 15, 2019
  • Reader response: Teaching Neuroimages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain
    • Nicole I. Wolf, Child Neurologist, Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam
    • Marjo S. van der Knaap, Child Neurologist, Head of the Department of Child Neurology, Department of Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam
    Submitted April 14, 2019
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

  • Resident & Fellow Rounds

Topics Discussed

  • All Pediatric
  • All Genetics
  • Developmental disorders
  • MRI
  • Leukodystrophies

Alert Me

  • Alert me when eletters are published

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