Alternating hemiplegia of childhood – a case of a genetically confirmed p.G947R mutation in ATP1A3 gene
Keywords:
Alternating hemiplegia of childhood, ATP1A3-Related Neurologic DisordersAbstract
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterized by transient episodes of alternating hemiplegia/hemiparesis, dystonic attacks, paroxysmal abnormal ocular movements (nystagmus, eye deviation), epileptic seizures and episodes of autonomic dysfunction.
The disease usually starts before 18 months of age and in the majority of patients - before 6 months of age. The plegic and the dystonic attacks disappear during sleep, but may recur shortly after waking up. Attacks can last from a few minutes to a couple of days and there may be a progression of the symptoms during the attacks up to quadriplegia. They are potentially life-threatening and may be accompanied by autonomic symptoms such as bradycardia, respiratory distress or SUDEP. Mutations in the ATP1A3 gene on chromosome 19q, encoding the alpha3 subunit of Na+/K+-ATPase are responsible for 76% of the AHC cases. Flunarizine has shown some effectiveness in reducing the severity and the duration of paralytic episodes, but its use does not result in complete cure.
We present a case of a boy, 3 years and 9 months of age, who experienced initially (at 45 days of age) dystonic attacks, accompanied by an abnormal eye movements and subsequently - hemiplegic episodes, affecting the left or the right side of the body and lasting for 3-4 days. Currently, the attacks have the characteristics of quadriplegia with a duration up to 2 weeks. A mutation p.G947R in the ATP1A3 gene on chromosome 19q was confirmed, suggesting a more favorable course.
Alternating hemiplegia is a rare and difficult to diagnose genetic disease of the early childhood. A set of specific signs and symptoms allows the development of diagnostic clinical criteria. Mutations in the ATP1A3 gene are a major cause of AHC. A connection between the different mutations and the severity of the disease phenotype is reported. А periodic cardiology follow-up is warranted as the life-threatening cardiac arrhythmias are potentially preventable.
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Copyright (c) 2017 Daniela Deneva, V. Bojinova
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