Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review

Background: Hemiplegic migraine (HM) is a rare type of migraine with aura. Some reports have described the clinical manifestations in HM patients with the ATP1A2 mutation. But the impact of the ATP1A2 mutation on intelligence in HM patients has not been evaluated in detail. Here we report a patient with intellectual decline in specific area.Case presentation: A 15-year-old boy with an aura that included disturbances in consciousness, associated with fever, vomiting, hemiplegia, and aphasia. He was diagnosed HM with the ATP1A2 mutation before. He had trouble in mathematics and depicting three-dimensional things.Conclusions: The HM with ATP1A2 patient could develop permanent intellectual disabilities. Therefore, the intelligence quotient should be carefully and comprehensively evaluated.

show abstract

“…The patient became comatose immediately after the onset of fever. This nding was described in other cases as well [9][10][11][12][13][14].…”

Section: Discussionsupporting

confidence: 76%

Intellectual Decline in a Patient with Migraine and APT1A2 Mutation: A Case Report

Wang

Yang

Zhang

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…ATP1A2 was initially identified to be associated with familial hemiplegia migraine (FHM) type 2 [14]. Several studies [4][5][6] have implicated ATP1A2 variants as uncommon causes of AHC, and the ATP1A2 variants are also associated with epilepsy and mental retardation [5]; however, few such cases have been reported, and none have been reported in Chinese patients so far.…”

Section: Discussionmentioning

confidence: 99%

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

et al. 2021

View full text Add to dashboard Cite

Background ATP1A2 gene mutation has been indicated to cause alternating hemiplegia of childhood (AHC); however, limited evidence supports this relationship so far. Case presentation We reported two Chinese patients with de novo ATP1A2 variants (c.970G>A and c.889G>A). Both patients presented with episodes of alternating hemiplegia, seizures and mild developmental delay. Brain magnetic resonance imaging revealed abnormal signals in both patients. Conclusions The new genetic evidence we reported here strengthened the gene–disease relationship, and the gene curation level between ATP1A2 and AHC became “Moderate” following the ClinGen Standard Operation Procedure. Consequently, the two variants can be reclassified as likely pathogenic.

show abstract

“…Table 1 includes clinical presentations, imaging findings, and genetic testing if performed for patients with hemiplegic migraines with an ATP1A2 mutation undergoing severe attacks published in the last ten years [6,9,10,15,[17][18][19][20][21][22][23][24]. Perfusion studies on FHM2 patients have demonstrated both hypo-and hyperperfusion.…”

Section: Discussionmentioning

confidence: 99%

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

2021

View full text Add to dashboard Cite

Background Hemiplegic migraines represent a heterogeneous disorder with various presentations. Hemiplegic migraines are classified as sporadic or familial based on the presence of family history, but both subtypes have an underlying genetic etiology. Mutations in the ATP1A2 gene are responsible for Familial Hemiplegic type 2 (FHM2) or the sporadic hemiplegic migraine (SHM) counterpart if there is no family history of the disorder. Manifestations include migraine with aura and hemiparesis along with a variety of other symptoms likely dependent upon the specific mutation(s) present. Case presentation We report the case of an adult man who presented with headache, aphasia, and right-sided weakness. Workup for stroke and various infectious agents was unremarkable during the patient’s extended hospital stay. We emphasize the changes in the Magnetic Resonance Imaging (MRI) over time and the delay from onset of symptoms to MRI changes in Isotropic Diffusion Map (commonly referred to as Diffusion Weighted Imaging (DWI)) as well as Apparent Diffusion Coefficient (ADC). Conclusions We provide a brief review of imaging findings correlated with signs/symptoms and specific mutations in the ATP1A2 gene reported in the literature. Description of the various mutations and consequential presentations may assist neurologists in identifying cases of Hemiplegic Migraine, which may include transient changes in ADC and DWI imaging throughout the course of an attack.

show abstract

Pediatric sporadic hemiplegic migraine (ATP1A2 gene): a case report and brief literature review

Cited by 8 publications

References 3 publications

Intellectual Decline in a Patient with Migraine and APT1A2 Mutation: A Case Report

Intellectual Decline in a Patient with Migraine and APT1A2 Mutation: A Case Report

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene–disease relationship and variant classification: a case report

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report

Contact Info

Product

Resources

About