Alternating Hemiplegia of Childhood in Korea: a Case Report
Chaewon Shin1,2, Dallah Yoo3, Han Joon Kim4
1Department of Neurology, Chungnam National University Sejong Hospital, Sejong, Korea.
Insights
Alternating hemiplegia of childhood (AHC), a rare neurodevelopmental disorder, is often linked to ATP1A3 gene variants. This report details the first Korean AHC case, highlighting an atypical presentation and diagnostic considerations.
Area of Science:
- Neuroscience
- Genetics
- Rare Diseases
Background:
- Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder.
- It is characterized by recurrent hemiplegic attacks affecting one side of the body.
- Pathologic variants in the ATP1A3 gene are found in up to 74% of AHC patients.
Observation:
- This study reports the first case of AHC in Korea, involving a 33-year-old man with recurrent hemiplegic and dystonic episodes since infancy.
- The patient exhibited normal function between episodes, lacked ataxia, but showed cerebellar atrophy on MRI and pes planovalgus deformity.
- Whole exome sequencing identified a heterozygous G947R variant (c.2839G > C, rs398122887) in the ATP1A3 gene, a known pathogenic variant.
Findings:
- The identified G947R variant in the ATP1A3 gene confirms the diagnosis of AHC in this atypical Korean case.
- The patient's presentation expands the known clinical spectrum of ATP1A3-related disorders.
Implications:
- This case underscores the importance of a thorough clinical evaluation for diagnosing ATP1A3-related disorders, even with atypical presentations.
- It highlights the expanding clinical spectrum of AHC and ATP1A3-related conditions.
- The findings contribute to a better understanding of AHC genetics and clinical variability.
Abstract:
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent paroxysmal hemiplegic attacks that affect one or the other side of the body. Up to 74% of patients with AHC have a pathologic variant in the ATP1A3 gene. After the introduction of next-generation sequencing, intermediate cases and atypical cases have expanded the clinical spectrum of ATP1A3-related disorders. Herein, we report the first case of AHC in Korea. A 33-year-old man visited our hospital with recurrent hemiplegic and dystonic episode after his first birthday. He was completely normal between episodes and did not have any ataxia, but brain magnetic resonance imaging showed cerebellar atrophy. He also had pes planovalgus deformity. Whole exome sequencing revealed a heterozygous G947R variant in the ATP1A3 gene (c.2839G > C, rs398122887), which is a known pathologic variant. This atypical case of AHC demonstrates the importance of the clinical approach in diagnosing ATP1A3-related disorders.
Related Concept Videos
01:17Hemorrhagic Stroke l: Introduction
01:29Hemorrhagic Stroke ll: Pathophysiology