Partial status epilepticus – Rapid genetic diagnosis of Alpers’ disease

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.

► Alpers’ disease is an autosomal recessive progressive neurometabolic disease.
► Polymerase gamma 1 (POLG1) mutation analysis facilitates its diagnosis.
► Single-centre experience of four children with Alpers’ disease is described.
► Blood analysis of POLG1 led to rapid diagnosis, appropriate care & genetic counselling.
► Key clinical, EEG, imaging and pathological features of this disease are highlighted.