Severe Neonatal Episodic Laryngospasm (SNEL) due to Mutation in the SCN4A Gene as a Rare Differential Diagnosis in Paroxysmal Inspiratory Stridor with Cyanosis in Infancy

Introduction

Episodic stridor with cyanosis during infancy can occur due to various underlying pathologies. Laryngomalacia is the most common cause, mostly resolving spontaneously within the first year of life. However, cardiac, respiratory, neurological, and gastrointestinal diseases as well as malformations have also to be considered as differentials for cyanosis. Laryngospasm is a rare cause of stridor and is usually related to intubation anaesthesia. Moreover, it can be difficult to differentiate laryngomalacia from laryngospasm solely on clinical grounds. Here we describe in detail the case of a female infant presenting with recurrent attacks of inspiratory stridor and cyanosis at 3 weeks of age, who was finally diagnosed with severe neonatal episodic laryngospasm (SNEL) due to a mutation in the SCN4A (sodium voltage-gated channel, alpha subunit 4) gene.

Publication History

Article published online:
28 October 2024