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Partial status epilepticus - rapid genetic diagnosis of Alpers' disease
Bláthnaid McCoy1, Cormac Owens, Rachel Howley
1Departments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
Insights
Alpers
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Encephalopathy in children can present with severe neurological symptoms.
- Liver dysfunction can be a concurrent feature in pediatric neurological disorders.
Abstract:
We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers' disease should be considered in any child presenting with partial status epilepticus.
