Teaching NeuroImage: New Pattern of Periventricular Nodular Heterotopia in Twins With a Pathogenic Variant in the MAP1B Gene
Citation Manager Formats
Make Comment
See Comments

Previous reports of variants associated with the MAP1B gene in patients with periventricular nodular heterotopia (PVNH) have described frontally predominant PVNH and perisylvian polymicrogyria, with clinical manifestations of seizures and cognitive impairment.1
We report a family with PVNH related to a variant in the MAP1B gene. The 8-year-old index girl was admitted to our hospital for intractable epilepsy presenting with unresponsiveness, behavioral arrest, blank staring, and oral automatisms lasting for about 30 seconds. She had age-appropriate motor skills but mild intellectual disability (ID).
Exome analysis revealed a heterozygous missense variant in MAP1B (NM_005909), c.6230G>A (p.R2077H) in the index patient, her twin sister, and their mother.
Unlike the imaging pattern previously reported, the MRI showed gray matter heterotopia along the trigones and occipitotemporal horns. Additional unique features of this case included bilateral frontal dominant pachygyria, alongside subcortical band heterotopia belonging to the Lissencephaly spectrum2 seen in both twins (Figure 1).
The images showed bilateral periventricular heterotopia (white arrows), pachygyria (white arrowheads), and subcortical band heterotopia (yellow arrows).
The seizure type, ID, and neuroimaging phenotype were identical in her twin sister at the age of 9 years. Their mother had the same variation without seizures. Their grandmother had both the epileptic phenotype and mild ID since childhood (Figure 2).
Epilepsy (vertical line), MAP1B variation (NM_005909), c.6230G>A (p.R2077H) (horizontal lines).
Author Contributions
H. Xue: drafting/revision of the manuscript for content, including medical writing for content; major role in the acquisition of data; study concept or design; analysis or interpretation of data. C. Zhang: major role in the acquisition of data; analysis or interpretation of data. L. Xiang: drafting/revision of the manuscript for content, including medical writing for content; analysis or interpretation of data. W. Yue: drafting/revision of the manuscript for content, including medical writing for content; study concept or design; analysis or interpretation of data.
Study Funding
This work was supported by the China Association Against Epilepsy Research Fund (No. CJ-2022-021).
Disclosure
The authors report no relevant disclosures. Go to Neurology.org/N for full disclosures.
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.
The Article Processing Charge was funded by the authors.
Submitted and externally peer reviewed. The handling editor was Resident and Fellow Deputy Editor Katherine Fu, MD.
Teaching slides links.lww.com/WNL/C988
- Received October 22, 2022.
- Accepted in final form May 4, 2023.
- Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
References
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
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.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg
► Watch
Related Articles
- No related articles found.