Abstract
A 2-week-old infant who presented with myoclonic encephalopathy had biochemical abnormalities consistent with nonketotic hyperglycinemia. Cranial CT showed agenesis of the corpus callosum, gyral malformation, and ventricular enlargement. Similar brain abnormalities occurred in 9 of 15 previously reported patients. Including this patient, agenesis of the corpus callosum appeared in 6 of 15 patients, gyral malformation in 6 of 14, ventricular enlargement in 5 of 15, and cerebellar hypoplasia in 2 of 16. Nonketotic hyperglycinemia thus joins a growing list of inborn errors of metabolism associated with brain malformations.
- © 1989 by AAN Enterprises, Inc.
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
Use of Whole-Genome Sequencing for Mitochondrial Disease Diagnosis
Dr. Robert Pitceathly and Dr. William Macken