Introduction

Epilepsia Partialis Continua (EPC) is rare during the first year of life. Alpers’ disease is an inherited autosomal recessive disorder characterized by defective mitochondrial DNA synthesis which leads to a fatal brain and liver degeneration clinically manifested as neurodevelopmental regression, liver failure and epilepsy. It’s caused by mutations in POLG1, being a progressive disease with fatal outcome.

Case description and methods

A 7 month-old previously healthy girl, with no family history of consanguinity, who develops initially febrile, focal clonic status epilepticus (EPC), progressing to chronic encephalopathy and multiorgan failure leading to death.

Results

Initial MRI was normal, follow up images showed restricted diffusion in the thalami, cortex and  periatrial white matter, with low ADC signal. EEG had assymetric amplitude, and later diffuse disorganized background activity with right centro-temporal acute waves. CSF and oligoclonal bands were normal, with persistent elevated liver enzymes and blood lactate. Other neurometabolic diseases were ruled out, with clinical suspicion of Alpers’ disease POLG1 mutation analysis was performed with a positive result.

Conclusions

Although Alpers’ disease is a rare disorder, due to its devastating outcome and wider genetic implications this diagnosis is important to consider in cases of Epilepsia Partialis Continua at a young age with suggestive clinical, EEG and MRI findings.

Confirming the diagnosis of Alpers’ Disease allows accurate genetic counselling and avoiding the use of potentially hepatotoxic drugs (such as valproic acid for seizure treatment).