Teaching NeuroImages: Transient cytotoxic edema in a child with a novel
            <i>ATP1A2</i>
            mutation

Kornbluh, Alexandra B.; Chung, Melissa G.

doi:10.1212/wnl.0000000000010103

Cited by 7 publications

(6 citation statements)

References 2 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our patients exhibited the clinical features of AHC. However, our patients are also distinguished from the majority of classic AHC patients by the late age of onset (typically < 18 months), the lack of recurrent dystonia, and autonomic nervous manifestations associated with seizures [11][12][13]. Abnormal brain MRI is uncommon for AHC but has been reported previously [5].…”

Section: Discussionmentioning

confidence: 61%

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

Section: Discussionmentioning

confidence: 61%

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

show abstract

“…This case presented with a variety of phenotypes that included fever, vomiting, alternating hemiplegia, convulsions, drowsiness, aphasia, episodic headache, unilateral cerebral oedema and cognitive impairment. HM caused by mutations in the ATP1A2 gene has been reported [ 6 , 7 ]. However, it is rare to report so many symptoms that are recurrent and varied in a single child.…”

Section: Resultsmentioning

confidence: 99%

“…These core symptoms and characteristics were consistent with the diagnostic criteria of SHM [ 2 ]. It has been widely reported that HM can sometimes be accompanied by symptoms such as fever, convulsion, altered consciousness (drowsiness or even coma), and cognitive impairment, as well as cerebral oedema seen in head MRI [ 3 , 6 , 7 ]. All of these symptoms occurred in our patient.…”

Section: Resultsmentioning

confidence: 99%

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child

et al. 2021

View full text Add to dashboard Cite

Background Hemiplegic migraine (HM) is an uncommon subtype of migraine with aura including motor weakness. The core symptoms of HM are headache and motor weakness. However, we report a rare case of atypical HM with nonheadache onset in a Chinese child who was misdiagnosed several times. Case presentation We report a Chinese boy whose onset was sudden when he was 3 years old. He presented with a variety of phenotypes, including fever, vomiting, alternating hemiplegia, and drowsiness, but no headache in the initial stages. Magnetic resonance imaging (MRI) demonstrated unilateral cerebral oedema during the initial episode of hemiplegia. These symptoms recurred many times. As the disease progressed, the patient developed episodic headache. The patient was misdiagnosed several times with encephalitis, alternating hemiplegia of childhood (AHC) and mitochondrial encephalopathy. Whole-exome next-generation sequencing revealed a de novo heterozygous missense mutation in the ATP1A2 gene(p.Gly715Arg) classified as pathogenic and eventually led to a diagnosis of HM when he was 11 years old. Flunarizine was subsequently administered, and no recurrence was found during follow-up. Conclusions HM in children may be atypical in the initial stage of the disease, which could manifest as fever, alternating hemiplegia and drowsiness but no headache at the onset. This could easily lead to misdiagnosis. With age, it may eventually manifest as typical HM. Therefore, attention should be given to differentiation in clinical practice.When similar clinical cases appear, gene detection is particularly important, which is conducive to early diagnosis and treatment.

show abstract

“…In recent years, when considering ATP1A2 mutations, it may be necessary to consider FHM and alternating hemiplegia of childhood (AHC), as they may share the same pathological mechanisms ( 21 – 23 ). Diagnostic criteria for AHC include: (1) repeated episodes of hemiplegia of varying severity or duration, involving alternating sides or both sides of the body; (2) onset before 18 months of age; (3) presence of other paroxysmal clinical signs, such as dystonic posturing, choreoathetoid movements, tonic spells, nystagmus, and autonomic features; and (4) progressive cognitive and neurological decline over time ( 24 ).…”

Section: Discussionmentioning

confidence: 99%

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation

Zhang,

Jiang,

Xian

et al. 2024

Front. Neurol.

View full text Add to dashboard Cite

This study presents a case report of a male adolescent diagnosed with familial hemiplegic migraine type 2 (FHM2), an autosomal dominant inheritance disorder caused by ATP1A2 mutation. We report the patient who presented with headache, aphasia, and left-sided weakness. Cerebrovascular disease and various infectious agents were unremarkable during the patient’s extended hospital stay. Our case revealed that brain hyperperfusion in familial hemiplegic migraine (FHM) persists over an extended duration, and despite the disease being in a state of recovery, enhanced brain magnetic resonance imaging (MRI) continues to exhibit hyperperfusion. A genetic testing was performed which revealed a mutation in the FHM2 gene (c.1133C > T). The patient has been followed for 3 years after hospital discharge. The boy suffered four episodes of hemiplegia and multiple episodes of headaches, and gradually developed seizures and cognitive impairment. It is advisable to consider FHM as a potential diagnosis for patients presenting with typical symptoms such as recurrent paroxysmal headaches and limb activity disorders.

show abstract

Teaching NeuroImages: Transient cytotoxic edema in a child with a novel ATP1A2 mutation

Cited by 7 publications

References 2 publications

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

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation

Contact Info

Product

Resources

About