Neurophysiological identification of a late infantile form of 'neuronal lipidosis'

In the past, the classification of progressive neurological diseases in childhood has been based on either clinical or histological criteria. More recently biochemical aspects have been included and the resulting terminology has become very complex. As the electrical activity of the brain is a sensitive indicator of altered cerebral metabolism, the EEG has added further parameters in the study of neurometabolic disorders. In the present study 30 children were selected on the basis of an unusual combination of EEG features: excess of irregular slow activity, spikes, often polyphasic, and very large amplitude discharges in response to low rates of photic stimulation. All these children suffered from a disease which after an insidious onset progressed with a fairly uniform clinical course leading to death in a few years. The histological diagnosis was that of `Batten's disease', but other patients with the same histological diagnosis did not show either the same EEG features or a similar clinical picture. It is suggested that the EEG features make it possible to identify at an early stage, a disease entity within the wider range of conditions sometimes called `Batten's disease'.