Abstract
Introduction
Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia
of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy,
and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early
developmental and epileptic encephalopathy has also been reported. Polymicrogyria
has recently been added to the phenotypic spectrum of ATP1A3-related disorders.
Case report.
We report here a male patient with early developmental delay who at 12 months presented
dystonia of the right arm which evolved into hemidystonia at the age of 2. A cerebral
MRI showed bilateral perisylvian polymicrogyria with intact basal ganglia. Whole-exome
and whole-genome sequencing analyses identified a de novo new ATP1A3 missense variant (p.Arg914Lys) predicted pathogenic. Hemidystonia was thought not
to be due to polymicrogyria, but rather a consequence of this variant.
Conclusion
This case expands the phenotypic spectrum of ATP1A3-related disorders with a new variant associated with hemidystonia and polymicrogyria
and thereby, suggests a clinical continuum between the different phenotypes of this
condition.
Keywords
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Article Info
Publication History
Published online: May 24, 2022
Accepted:
May 6,
2022
Received in revised form:
May 4,
2022
Received:
August 5,
2021
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
