Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 85 - 90 | DOI: 10.24911/JBCGenetics/183-1541056897
Familial Hemiplegic Migraine with Prolonged Coma and Hyperthermia: ATP1A2 Gene Mutation Case Report in a Single Saudi Family.
Authors: Waleed Altwaijri , Fuad Almalki , Ahmed Al-Rumayyan , Safiyyah Asiri
Article Info
Authors
Waleed Altwaijri
Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Fuad Almalki
Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Ahmed Al-Rumayyan
Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Safiyyah Asiri
Pediatric Department, King Abdullah Children Specialist Hospital (KASCH), King Abdulaziz Medical City, Riyadh, Saudi Arabia
Publication History
Received: November 01, 2018
Accepted: March 10, 2019
Published: January 01, 2019
Abstract
Background: Familial hemiplegic migraine (FHM) is a rare disorder presented commonly with coma, hyperthermia, and headache. FHM is usually associated with fully reversible motor weakness as a specific symptom of aura. Seizure and fever are the secondary features observed. All the affected individuals were subjected to several laboratory tests. Case presentation: Three sisters diagnosed with type 2 familial hemiplegic migraines presenting features such as coma and hyperthermia. The brain (MRI) revealed focal subtle cortical swelling, Electroencephalography (EEG) showed unilateral slowing, while no signs of infectious disease were observed. Molecular and genetic tests using whole exome sequencing (WES) identified a novel heterozygous mutation (c.2450T>A p.Ile817Asn) in the exon 18 of the ATP1A2 gene (NM_000702.3). The variant segregated with the disease phenotype within the family. Conclusion: The current study report for the first time, a Saudi family with migraine coma having a novel heterozygous AT1A2 mutation.
Keywords: Familial hemiplegic migraine, coma, hyperthermia, cortical spreading depression
