Sporadic Hemiplegic Migraine with ATP1A2 and Prothrombin Gene Mutations

Background. Hemiplegic migraine is a rare type of migraine that may present in children and adolescents. Both familial and sporadic hemiplegic migraines have similar prevalence and clinical characteristics. Patient. We report an adolescent with sporadic hemiplegic migraine who previously had a similar attack in the past and who was initially evaluated for a possible acute ischemic event. Results. Magnetic resonance angiography showed dilatation of the left middle cerebral artery that resolved in a follow-up study. She was also found to have a ATP1A2 (c.2273 G>C) mutation and a heterozygous prothrombin mutation. Conclusions. We suggest that patients with sporadic hemiplegic migraine be tested for both ATP1A2 mutations which in some cases may be pathogenic, and prothrombin mutations which increase the stroke risk for this patient population. 1. Introduction Hemiplegic migraine is a rare subtype of migraine associated with transient hemiplegia [1] that occurs with equal prevalence in either sporadic or familial forms [1]. A motor aura is required for its diagnosis but it should be kept in mind that it is not the only type of aura occurring in the patient [2]. Sporadic hemiplegic migraine shares a similar clinical profile as familial hemiplegic migraine [3]. It is the only migraine disorder where pathogenetic mutations are known, since it is associated with mutations in the CANA1A, ATP1A2, and SCN1A genes [1]. Mutations in these genes have also been reported in some cases of sporadic hemiplegic migraine [4, 5]. Migraine has been reported to be a risk factor for ischemic stroke with possible mechanisms involving neuronal, vascular and coagulation abnormalities [6]. The case report presented in this paper describes a mutation in the ATP1A2 and prothrombin genes in a young adolescent with sporadic hemiplegic migraine. Mutations in the prothrombin gene may further increase the risk for stroke occurrence. 2. Case Report A previously healthy 15-year-old girl was playing tennis when suddenly her speech became slurry and the right lower face and arm became numb. The family noticed a right facial droop and the patient realized that she could not grip the racquet with her right hand. The episode lasted 30 minutes. Subsequently, she developed a severe throbbing headache localized to the right frontal-temporal area accompanied by photophobia. In the local emergency room she underwent a computed tomography of the brain which was within normal limits. She was treated with aspirin and morphine and was transferred to our institution for further evaluation. Upon arrival,