Migraine with Brainstem Aura Associated with SCN2A Mutation: A Case Report
JOURNAL OF PEDIATRIC NEUROLOGY
摘要
Background Migraine with brainstem aura (MBA) is a rare subtype of migraine with aura that associates headache with paroxysmal episodes of ataxia, dysarthria, and diplopia among other symptoms attributed to brainstem involvement. The manifestation of this disease in the absence of typical aura symptoms (i.e., fully reversible visual, sensory and/or speech/language symptoms) is even more infrequent. Case Report In this article, we reported a case of a 16-year-old male patient with MBA associated with a sodium voltage-gated channel alpha subunit 2 (SCN2A) de novo mutation. The patient did not have typical aura symptoms. Ataxia was the most prominent clinical feature, leading to initial diagnosis of episodic ataxia. Patient responded partially to treatment with onabotulinum toxin A. Conclusion MBA needs to be taken into consideration in the differential diagnosis of recurrent ataxia, even in the absence of typical aura symptoms. Finding a de novo SCN2A mutation in our patient helps in further understanding of MBA genetics.
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关键词
pediatric, SCN2A, migraine, genetic, ataxia
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