Congenital myasthenic syndrome with episodic apnea
| Autor: | Leah Mallory, Tyler M. Burpee, Stephanie L. Burgess, Louis M. Kunkel, James G. Shaw, Peter B. Kang, Basil T. Darras, Michael S. D. Agus, Elicia Estrella, Samuel Nurko |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Apnea
Midazolam Molecular Sequence Data Edrophonium Article Choline O-Acetyltransferase Diagnosis Differential Developmental Neuroscience Ptosis medicine Blepharoptosis Humans Hypnotics and Sedatives Repetitive nerve stimulation Amino Acid Sequence Conserved Sequence Myasthenic Syndromes Congenital business.industry Respiration Infant Congenital myasthenic syndrome medicine.disease Choline acetyltransferase Myasthenia gravis Pedigree Treatment Outcome Neurology Pyridostigmine Anesthesia Pediatrics Perinatology and Child Health Mutation Female Neurology (clinical) Cholinesterase Inhibitors medicine.symptom business medicine.drug Pyridostigmine Bromide |
| Zdroj: | Pediatric neurology. 41(1) |
| ISSN: | 1873-5150 |
| Popis: | 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 the first six months of life who underwent a prolonged evaluation before ptosis was observed, leading to the 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 3 years. Pyridostigmine is the primary therapy for choline acetyltransferase deficiency, but the observation of the efficacy of midazolam during this patient’s episodes of apnea is interesting, and bears further study. |
| Databáze: | OpenAIRE |
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