Case report reveals migraine linked to genetic mutations in a teenager, indicating effective treatment with flunarizine.
Background: Hemiplegic migraine (HM), a rare subtype of migraine featuring transient hemiparesis during attacks, presents diagnostic challenges due to its dramatic and variable manifestations. Clinical Description: We present a case of a 17-year-old boy with recurrent hospitalizations for severe headache preceded by visual aura, followed by acute-onset hemiplegia and transient neurological deficits, all resolving completely between episodes. Management and Outcome: Baseline blood and cerebrospinal investigations were normal. Contrast-enhanced magnetic resonance (MR) imaging showed sulcal effacement in the right temporoparietal area with no meningeal enhancement; the electroencephalogram, MR venography, and MR spectroscopy were normal. Whole exome sequencing revealed a pathogenic heterozygous missense mutation (c.2723G>A) in exon 20 of ATP1A2 gene on chromosome 1q23 in both the patient and his mother, thus diagnosing familial HM type 2. He was treated with flunarizine and improved thereafter. Conclusion: Recurrent transient hemiplegia associated with headache, every time preceded by visual or speech abnormalities, can be due to HM. A thorough clinical evaluation and family history are essential to raise suspicion of this disorder, and genetic analysis can confirm the diagnosis. Treatment is simple and rewarding.
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Nanda et al. (2025) studied this question.
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