EEG Diagnosis of Late Infantile Neuronal Ceroid Lipofuscinosis

ABSTRACT.

Late infantile neuronal ceroid lipofuscinosis (LINCL) is a familial, neurodegenerative disease, and affects children at various ages. Epileptic seizures, encountered in LINCL, are often medically refractory, and EEG plays an important role in the diagnosis. In addition to deterioration of the background EEG and spontaneous epileptiform discharges, responses to intermmitent photic stimulation at slow rates are highly characteristic of the late infantile form, typically manifesting at ages 2–3 years. The diagnostic features were reviewed in affected siblings. EEG evaluations of an child exhibiting progressive neurological deterioration should always include intermmitent photic stimulation at slow rates.