Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis

The objective of this study was to present clinical and electroencephalogra phic findings in 18 cases with late infantile neuronal ceroid lipofuscinose s, focusing on features that assist early diagnosis. Clinical and EEG findi ngs have been described in the past for classic types, but several variants have recently been reported. The authors reviewed the clinical and EEG fin dings of 18 childhood onset neuronal ceroid lipofuscinoses cases. In the la te infantile neuronal ceroid lipofuscinoses type, both typical and variant cases have been observed. In this type, the presence of a particular pseudo periodic EEG pattern that we found in 15/18 patients and observed in the fi rst stages of the disease could be useful in early diagnosis, especially if associated with the absence of sleep spindles. A precise nosological class ification, based both on clinical and instrumental findings is the prerequi site for a correct genotype-phenotype correlation that could greatly improv e our knowledge of this disease, providing a better understanding of pathog enesis and increasing our ability to treat it. (C) 2001 Elsevier Science BN . All rights reserved.