[Alternating hemiplegia with epilepsy].

Area of Science:

• Neurology
• Genetics
• Epileptology

Background:

• Alternating hemiplegia of childhood (AHC) is a rare neurological disorder characterized by recurrent episodes of unilateral motor impairment.
• Epilepsy is a common neurological condition involving recurrent seizures, which can sometimes complicate the diagnosis of other disorders.
• The co-occurrence of AHC and epilepsy presents diagnostic challenges due to overlapping or distinct seizure manifestations.

Observation:

• A pediatric case presented with complex seizure activity, initially hindering a definitive diagnosis.
• Video-electroencephalography (EEG) monitoring was crucial in differentiating between epileptic and non-epileptic seizures occurring concurrently with different patterns.
• Simultaneous epileptic and non-epileptic seizures were identified, complicating the clinical picture.

Findings:

• Genetic analysis, including genome-wide sequencing, confirmed a mutation in the ATP1A3 gene, the known cause of AHC.
• The identified ATP1A3 gene mutation provided a definitive genetic diagnosis for the patient's condition.
• Timely initiation of targeted therapy based on the genetic diagnosis was achieved.

Implications:

• This case highlights the importance of advanced diagnostic tools like video-EEG and genetic sequencing in complex neurological cases.
• Targeted therapy directed at the underlying genetic defect (ATP1A3 mutation) proved effective in managing both epileptic and non-epileptic seizures.
• Successful treatment demonstrates the potential for precision medicine in managing rare genetic neurological disorders like AHC with co-existing epilepsy.