Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large studyof Italian cases

We reviewed the clinical and EEG features of 30 Italian patients with child hood-onset neuronal ceroid lipofuscinosis (NCL). The outcome and the EEG pa ttern of the 4 infantile NCL cases were classic, although the age at onset of symptoms varied from 1.0 to 3.5 years. This latter finding is unusual an d has not been reported for other Italian patients. Both typical and varian t cases of late-infantile NCL (LINCL) were observed. This NCL type represen ts the most common form in our country, and was the largest group (18 cases ) in our study. A particular pseudoperiodic EEG pattern was observed in 15 of the 18 patients with LINCL. This pattern may be useful in early diagnosi s, especially if associated with the absence of sleep spindles. In the 8 ca ses with juvenile NCL, clinical and EEG findings were similar to those repo rted in the literature.