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[Alternating hemiplegia].

S L Kulikova¹, S A Likhachev¹, A R Kashyna²

¹Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova

|April 24, 2020

Summary

This summary is machine-generated.

Alternating hemiplegia of childhood is a rare neurological disorder. Flunarizine effectively reduced seizures in a patient with an ATP1A3 gene mutation, but adenosine triphosphate was ineffective.

Keywords:

alternating hemiplegia clinical features treatment

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Area of Science:

Neurology
Genetics

Background:

Alternating hemiplegia of childhood (AHC) is a rare neurological disorder affecting infants.
It presents with recurrent episodes of hemiparesis, often accompanied by other neurological symptoms.
Mutations in the ATP1A3 gene are implicated in over 75% of AHC cases.

Observation:

This report details a case of AHC in a patient with a specific heterozygous mutation in the ATP1A3 gene (chr19: 42489098A>T, rs606231428).
The mutation leads to an amino acid substitution (p.Val335Asp) in the encoded protein.
The patient experienced neurological symptoms including seizures.

Findings:

Treatment with flunarizine at 5 mg/day significantly decreased the frequency and duration of seizures.
Adenosine-5-triphosphoric acid (20 mg/kg/day) showed no effectiveness in managing the patient's symptoms.
This highlights a differential response to therapeutic interventions in AHC.

Implications:

The findings underscore the importance of genetic diagnosis in AHC for targeted treatment.
Flunarizine may be a beneficial therapeutic option for managing seizures in AHC patients with ATP1A3 mutations.
Further research is needed to elucidate the precise mechanisms of flunarizine's efficacy and the ineffectiveness of adenosine triphosphate in this context.