Alpers-Huttenlocher syndrome; Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
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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