Alpers syndrome

Alpers syndrome

A 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.
 
Clinical findings  
Seizures, incoordination, mental deterioration, spasticity, cortical blindness, cortical deafness.
  
Management  
Surgery to correct skull and facial defects.
  
Prognosis  
Poor: death is the norm within 3 years of onset; most patients die by adolescence. 
 
Molecular pathology
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.
References in periodicals archive ?
After the child began to show the same symptoms as the others, an MRI of the child's brain revealed a thalamic abnormality, and testing revealed Alpers syndrome caused by POLG gene mutations.
PARENTS' CLAIM The chances of having a child with Alpers syndrome are about 1:200,000 in the general population; if one parent is a known carrier, the chance is 1:1,000.
The POLG mutations were first identified in Alpers syndrome in 1999.
Alpers syndrome is characterized by psychomotor retardation, intractable epilepsy, and liver failure in infants and young children.
Although some clinical presentations, such as progressive external ophthalmoplegia sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; or a combination of cerebral degeneration and liver failure in Alpers syndrome, may be quite characteristic, most patients with mitochondrial disorders have variable and nonspecific presentation, especially in the early stages of disease.
Cerebral atrophy or edema is a frequent finding in Alpers syndrome.
Liver biopsy could be very helpful when it is the only available tissue with detectable morphologic abnormalities, such as in Alpers syndrome.
Some characteristic histopathology findings are very helpful in diagnosing Alpers syndrome at autopsy.
A doctor decided to repeat the brain tests and to his horror found Jordan had the extremely rare Alpers Syndrome.
Alpers Syndrome has a one in a billion chance of striking.