Search
Alpers-Huttenlocher syndrome; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
Pathology:
- neuronal loss
- spongiform degeneration
- astrocytosis of the visual cortex
- liver biopsy results show steatosis, often progressing to cirrhosis
Genetics:
- autosomal recessive
- associated with defects in POLG
Clinical manifestations:
- severe developmental delay
- intractable seizures*
- progressive liver failure*
- acute liver failure after exposure to valproic acid*
- death in childhood
- cortical blindness*
* diagnostic features
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 203700
References
- UniProt :accession P54098
- OMIM :accession 203700