Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features.

A clinico-pathological entity of progressive neuronal degeneration of childhood with liver disease has now been recognised. Onset is in early childhood with intractable fits and progressive dementia. EEG/ERG/VEP studies have been carried out in 12 children with this condition. In most patients the EEG showed strikingly similar and unusual abnormal patterns (high amplitude slow activity together with smaller polyspikes). The flash VEP was usually abnormal and often asymmetrical. In the appropriate clinical setting the neurophysiological features are sufficiently characteristic to aid the clinician in early diagnosis of this autosomal recessive disorder.