Unraveling Alternating Hemiplegia of Childhood: A Case Report with Genetic and Clinical Insights.

ABSTRACT:

Introduction

Alternating hemiplegia of childhood (AHC) is a complex neurological disorder comprising paroxysmal episodes of repeated, transient paresis involving either or both sides of the body, with onset usually before the age of 18 months. The etiology is varied and includes channelopathy, mutations of the ATP1A3 gene that encode alpha subunit of the NA⁺-K⁺ ATPase pump.

Case presentation

A 7-month-old girl presented with tonic neck deviation of the neck and eyes, episodic hemiparesis affecting both sides alternatively. Each episode resolved after sleep and was precipitated by hunger, fever, and sleep deprivation. Neurological examination and laboratory workup, including MRI and EEG, were normal. Whole-exome sequencing revealed a heterozygous de novo

SUBMITTER: Mahapatra S 

PROVIDER: S-EPMC12659400 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature