This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
A middle-aged patient presented with mild facial dysmorphisms, small teeth with enamel hypoplasia, progressive gait disturbances, memory problems, and history of syndactyly, corrected in early childhood. MRI showed a hypomyelination pattern compatible with oculodentaldigital dysplasia (ODDD)1,2 (Figure 1). Ophthalmic findings revealed severe bilateral myopia. Exome sequencing revealed a heterozygous GJA1 missense variant (p.Gly138Asp). The patient's mother (deceased) had developed slowly progressive neurodegeneration, ataxia, and seizures. MRI (age 80) revealed extensive leukodystrophic changes (Figure 2). ODDD diagnosis is often missed, highlighting the importance of clinical suspicion, MRI, and molecular testing in adult patients with facial, dental, and neurologic clinical features.
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.
- © 2022 American Academy of Neurology
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: 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.
You May Also be Interested in
Hemiplegic Migraine Associated With PRRT2 Variations A Clinical and Genetic Study
Dr. Robert Shapiro and Dr. Amynah Pradhan