| Congenital myasthenic syndrome with episodic apnea. | |
| | |
MedLine Citation:
|
PMID: 19520274 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Congenital myasthenic syndrome is difficult to diagnose, especially in the neonate when classic myasthenic signs may not be present. Congenital myasthenic syndrome with episodic apnea is a rare cause of recurrent apnea in infancy. We present an infant with nine severe episodes of apnea in her first 6 months who underwent a prolonged evaluation before ptosis was evident, leading to a diagnosis of choline acetyltransferase deficiency, a form of congenital myasthenic syndrome. Midazolam appeared to resolve the apnea on five occasions. The diagnosis was supported by edrophonium testing and repetitive nerve stimulation. Mutation analysis demonstrated compound heterozygous p.T354M and p.A557T mutations, the latter of which is novel. The patient's respiratory status stabilized on pyridostigmine, and she is ambulatory at age 3 years. Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the efficacy of midazolam during this patient's episodes of apnea is interesting, and warrants further study. |
| | |
Authors:
|
Leah A Mallory; James G Shaw; Stephanie L Burgess; Elicia Estrella; Samuel Nurko; Tyler M Burpee; Michael S Agus; Basil T Darras; Louis M Kunkel; Peter B Kang |
Related Documents
:
|
9585454 - Two surgically treated patients with severe symptoms of takayasu arteritis 21240504 - The ossification diathesis in the medici family: dish and other features. 22176344 - Bilateral dysgerminoma in a patient with a previous diagnosis of swyer syndrome. 2785054 - Incidence of congenital rubella syndrome in 19 regions of europe in 1980-1986. 9585454 - Two surgically treated patients with severe symptoms of takayasu arteritis 20042164 - Disproportionate short stature with multisystem involvement - ellis-van creveld syndrome. |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Pediatric neurology Volume: 41 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2009 Jul |
Date Detail:
|
Created Date: 2009-06-12 Completed Date: 2009-08-27 Revised Date: 2010-12-03 |
Medline Journal Info:
|
Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 42-5 Citation Subset: IM |
Affiliation:
|
Department of Medicine, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Amino Acid Sequence Apnea / complications*, diagnosis*, drug therapy Blepharoptosis / etiology Choline O-Acetyltransferase / deficiency*, genetics Cholinesterase Inhibitors / therapeutic use Conserved Sequence Diagnosis, Differential Female Humans Hypnotics and Sedatives / therapeutic use Infant Midazolam / therapeutic use Molecular Sequence Data Mutation Myasthenic Syndromes, Congenital / complications*, diagnosis* Pedigree Pyridostigmine Bromide / therapeutic use Respiration / drug effects Treatment Outcome |
| Grant Support | |
ID/Acronym/Agency:
|
K08 NS048180/NS/NINDS NIH HHS; K08 NS048180-05/NS/NINDS NIH HHS; P30 HD18655/HD/NICHD NIH HHS; //Howard Hughes Medical Institute |
| Chemical | |
Reg. No./Substance:
|
0/Cholinesterase Inhibitors; 0/Hypnotics and Sedatives; 101-26-8/Pyridostigmine Bromide; 59467-70-8/Midazolam; EC 2.3.1.6/Choline O-Acetyltransferase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Role of intravenous levetiracetam in acute seizure management of children.
Next Document: Myoclonic epilepsy with ragged-red fibers without increased lactate levels.