Alpers syndrome is a progressive encephalopathy of early onset, characterized by rapid
and severe developmental delay, intractable seizures and liver involvement in a previously
healthy child. Here, we report on respiratory chain enzyme deficiency in the liver
of four unrelated children presenting with epileptic encephalopathy and liver involvement
diagnosed as Alpers syndrome. Interestingly, oxidative phosphorylation in skeletal
muscle was normal in 4/4 and blood and CSF lactate in 3/4 patients. Liver involvement
had a late clinical onset in patients with previously isolated epileptic encephalopathy.
Based on these observations, we suggest 1. to give consideration to respiratory chain
deficiency in the diagnosis of severe epileptic encephalopathy in childhood, even
when no clinical or biological evidence of liver involvement or lactic acidosis is
noted, and 2. to investigate the respiratory chain in a needle biopsy of the liver
in children with epileptic encephalopathy prior to valproate administration if biochemical
indications for respiratory chain disease or hepatic disturbance are noted, as this
drug is believed to occasionally trigger hepatic failure and fatal outcome.
Key words
Mitochondrial respiratory chain - Alpers syndrome - Progressive infantile poliodystrophy
- Epileptic encephalopathy - Valproate
References
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