Pharmacogenomics and Personalized Medicine (Sep 2024)

A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene

  • Guan DM,
  • Shan YZ,
  • Zhao HT,
  • Meng Y,
  • Yan ZR,
  • Zhang HL

Journal volume & issue
Vol. Volume 17
pp. 437 – 442

Abstract

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Dong-Mei Guan,1,* Yuan-Zhuang Shan,1,* Hao-Tian Zhao,2 Ying Meng,2 Zhong-Rui Yan,2 Hai-Lin Zhang2 1Shandong University of Tradition Chinese Medicine, Jinan, Shandong, People’s Republic of China; 2Department of Neurology, Jining No.1 People’s Hospital, Jining, Shandong, People’s Republic of China*These authors contributed equally to this studyCorrespondence: Hai-Lin Zhang, Department of Neurology, Jining No.1 People’s Hospital, No. 6 of Healthy Road, Rencheng District, Jining, Shandong, 272000, People’s Republic of China, Tel +86 176 6130 0365, Email [email protected]: Hemiplegic migraine, a less common variant of migraine, is the focus of this paper. Within the scope of this study, we present a case of hemiplegic migraine that bears the potential for misdiagnosis, particularly as encephalitis.Brief introduction to the Disease: The patient developed a right-sided headache a day prior to admission, accompanied by fever, nausea, vomiting, and left-sided limb weakness. On the fourth day, the patient experienced a grand mal epilepsy, marked by unconsciousness, leftward deviation of both eyes, limb convulsions, and foaming at the mouth. Cerebrospinal fluid analysis revealed no apparent abnormalities, Electroencephalography showed abnormal slow waves, imaging studies indicated swelling and meningeal thickening in the right cortex, and genetic testing identified a heterozygous mutation in the ATPIA2 gene. The diagnosis was hemiplegic migraine, and the patient received symptomatic supportive treatment, leading to improvement and subsequent discharge. Flunarizine and sodium valproate were prescribed post-discharge, and the patient achieved complete recovery after a one-month follow-up.Conclusion: Apart from experiencing headaches, patients with hemiplegic migraine may exhibit additional symptoms like fever, epilepsy, and hemiplegia. These manifestations warrant clinical attention, and if deemed necessary, genetic testing should be conducted, and this is an autosomal dominant pattern.Keywords: ATP1A2 gene mutation, encephalitis, migraine, hemiplegic migraine, swelling of the cortex

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