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.
The fetal acetylcholine receptor (AChR) is present until 33 weeks gestation, when the fetal (γ) subunit is replaced by the adult (ε) subunit. Most infants of myasthenic mothers are asymptomatic despite intrauterine exposure to AChR antibodies (AChR Ab). A higher fetal to adult AChR Ab ratio can lead to transient neonatal myasthenia gravis (TNMG) in 10–15% of infants or rarely to arthrogryposis multiplex congenita (AMC). Here we report three brothers with facial diplegia, highly arched palate, velopharyngeal incompetence, conductive hearing loss, and cryptorchidism. The maternal fetal AChR Ab were elevated. We propose the term fetal acetylcholine receptor inactivation syndrome and suggest this phenotype results from inactivation of the fetal subunit during a critical period of fetal muscle development.
Case report.
A 33-year-old woman developed ptosis, facial weakness, generalized fatigue, and elevated AChR Ab (>1,000, normal <0.4). Thymectomy, pyridostigmine, prednisone, and plasmapheresis improved her symptoms. Subsequently, she had three successive pregnancies with polyhydramnios and normal fetal movements while continuing prednisone. Each son was born at term by C-section with no respiratory distress.
During her first pregnancy, the mother received no plasmapheresis. At birth, the infant (figure, A) had hypotonia, poor suck, and inability to swallow. He remained in the neonatal intensive care unit (NICU) with TNMG for 5 weeks and improved with IV immunoglobulin (IVIg) and nasogastric (NG) tube feedings. At 5 years he has microcephaly, facial diplegia with inability to close mouth …
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
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