5 Facts you should know about

Alpers syndrome

Alpers Syndrome, also known as Alpers-Huttenlocher syndrome, is an extremely rare and progressive neurological disorder primarily affecting infants and children

It is characterized by a triad of symptoms: seizures, progressive developmental regression, and liver disease, often leading to early childhood death

The syndrome is caused by mutations in the POLG gene, affecting mitochondrial DNA replication, leading to mitochondrial dysfunction in various tissues, particularly in the brain and liver

Diagnosis involves clinical evaluation, brain imaging showing characteristic changes, EEG to assess seizures, and genetic testing to confirm mutations in the POLG gene

Management is primarily supportive, focusing on seizure control with antiepileptic medications, supportive care for liver disease, and addressing developmental needs

See our full disease profile

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