Alpers syndromeA rare (1:105) autosomal recessive condition (OMIM:203700) clinically characterised by premature closure of cranial sutures resulting in a peaked skull and abnormal facies, and by intractable epilepsy, loss of mental and movement abilities (psychomotor regression) and liver disease, which first appears in toddlers. It is the most severe of the POLG-related disorders, which share signs and symptoms of muscle, nerve and cerebral dysfunction.
Seizures, incoordination, mental deterioration, spasticity, cortical blindness, cortical deafness.
Surgery to correct skull and facial defects.
Poor: death is the norm within 3 years of onset; most patients die by adolescence.
Alpers syndrome is caused by a mutation on POLG, a gene located on chromosome 15q26.1 that encodes the alpha subunit of polymerase gamma, which is critical for mitochondria’s role in energy metabolism.