Mutations in SCN4A: A Rare but Treatable Cause of Recurrent Life-Threatening Laryngospasm
| Autor: | Michael G. Hanna, Antonia Clarke, Heinz Jungbluth, S. Veronica Tan, Rahul R. Singh, Stephanie A. Robb |
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| Rok vydání: | 2014 |
| Předmět: |
Pediatrics
medicine.medical_specialty Adolescent Laryngismus Recurrence medicine Humans Missense mutation Laryngospasm NAV1.4 Voltage-Gated Sodium Channel Family history Child business.industry Periodic paralysis Congenital myasthenic syndrome medicine.disease Myotonia Treatment Outcome Paramyotonia congenita Child Preschool Anesthesia Mutation Pediatrics Perinatology and Child Health Female medicine.symptom Differential diagnosis business |
| Zdroj: | Pediatrics. 134:e1447-e1450 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.2013-3727 |
| Popis: | Laryngospasm is a rare but potentially life-threatening occurrence in infants and usually has infective, allergic, metabolic, or anatomic causes. Underlying genetic conditions are rarely considered. Mutations in SCN4A encoding the voltage-gated sodium channel NaV1.4 have been implicated in a wide spectrum of neuromuscular disorders with variable onset, ranging from a rare form of congenital myasthenic syndrome to both hypokalemic and hyperkalemic forms of periodic paralysis and paramyotonia congenita. Here we report on 3 unrelated patients without family history presenting with recurrent, life-threatening episodes of laryngospasm from the first months of life. Clinical features more typically associated with SCN4A-related disorders such as generalized muscle hypertrophy with clinical or electrical myotonia evolved later in life. All patients were found to be heterozygous for the same SCN4A mutation, c.3917G>A; p.Gly1306Glu. Treatment with carbamazepine resulted in complete abolition of recurrent laryngospasm and alleviated symptoms associated with myotonia and muscle stiffness. We conclude that SCN4A mutations ought to be considered in the differential diagnosis of recurrent infantile laryngospasm because timely institution of treatment can be life-saving. |
| Databáze: | OpenAIRE |
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