poliodystrophia cerebri progressiva infantilis

po·li·o·dys·tro·phi·a ce·re·bri pro·gres·si·va in·fan·ti·lis

[MIM*203700]
autosomal recessively inherited progressive spastic paresis of extremities with progressive mental deterioration, with development of seizures, blindness, and deafness, beginning during the first year of life, and with destruction and disorganization of nerve cells of the cerebral cortex.

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.

po·li·o·dys·tro·phi·a ce·re·bri pro·gres·si·va in·fan·ti·lis

(pō'lē-ō-dis-trō'fē-ă ser'e-brī pro-gre-sī'vă in-fan-tī'lis)
Familial progressive spastic paresis of extremities with progressive mental deterioration, with development of seizures, blindness, and deafness, beginning during the first year of life, and with destruction and disorganization of nerve cells of the cerebral cortex.