Family hemiplegic migraine as differential diagnosis of stroke: series of 2 case reports

Case presentation: Case 1: Female patient, hospitalized at 15 years for investigation of hemiplegia and right hemiparesis accompanied by vomiting and fever without local history signs. At 16 years hospitalized for similar condition, with unchanged resonance and complete remission in two weeks. Genetic investigation was performed for hemiplegic migraine, with identification of heterozygosis mutation in the ATP1A2 gene (c.2563G>A). Case 2: An 11-year-old female patient complaining of severe intermittent occipital headache, followed by syncope. It evolved with confusion, disorientation and vomiting followed by left hemiparesis, rhyming deviation to and bilateral eye tremor lasting ~30 minutes. In view of the normality of neuroimaging, a molecular investigation was performed that showed heterozygosis in the PRRT2 gene (c.650651 insC).

Discussion: Migraine is classically characterized as pulsatile hemicranian headache, accompanied by photophobia, phonophobia, nausea and vomiting, with great impairment in daily life. It is a common condition that is difficult to diagnose in the pediatric population due to greater variability in clinical presentation when compared with adults. It may or may not be preceded by visual, auditory, and sensory symptoms called aura. Family hemiplegic migraine (HFS) is a type of migraine whose aura is characterized by hemiparesis, hemianopsia, aphasia, lethargy, and acute-onset mental confusion, simulating ischemic event in the central nervous system. Due to its autosomal dominant character, it affects first and second degrees relatives, a fact that should increase suspicion for diagnosis. Mutations already identified for EHF are localized in the ATP1A2, CACNA1A, PRRT2 and SCN1A genes. Although in the reported cases the mutation is distinct, the clinical presentation has many similarities to each other, and both were initially hospitalized with the suspicion of stroke and evolved with complete remission of symptoms.

Final comments: The reported cases illustrate that the suspicion of family hemiplegic migraine should be considered in patients with acute focal neurological deficits without neuroimaging alterations compatible with ischemic event and without exuberant pain. Molecular testing can help in the diagnosis to avoid unnecessary hospitalizations and investigations and guide patients and family members affected regarding prophylactic treatment, prognosis and transmission in dominant inheritance pattern.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
18 September 2023