Background: Sporadic and familial hemiplegic migraines are rare paroxysmal disorders characterized by transient hemiparesis and headache. The distinction is based on whether other family members are affected. In 50% of cases, these migraines are caused by CACNA1 A missense mutations.
Patients: We describe a boy with a particularly severe phenotype and a de novo R1349Q mutation of the CACNA1 A gene.
Results: The patient suffered from early-onset profound mental retardation, epileptic seizures, cerebellar ataxia, and progressive cerebellar atrophy. He experienced prolonged attacks of migraine with hemiparesis, seizures, altered consciousness, and fever resulting from minor head traumas. A prolonged hemiplegic attack improved following a 5-day treatment of 100 mg/d methylprednisolone.
Conclusion: R1349Q mutation of the CACN1 A gene may be associated with a severe phenotype. Corticoids might be beneficial in prolonged hemiplegic attacks.
Keywords: CACNA1A gene; corticoids; hemiplegic; mental retardation; migraine.
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