Abstract
The objective of this study was to present clinical and electroencephalographic findings
in 18 cases with late infantile neuronal ceroid lipofuscinoses, focusing on features
that assist early diagnosis. Clinical and EEG findings have been described in the
past for classic types, but several variants have recently been reported. The authors
reviewed the clinical and EEG findings of 18 childhood onset neuronal ceroid lipofuscinoses
cases. In the late infantile neuronal ceroid lipofuscinoses type, both typical and
variant cases have been observed. In this type, the presence of a particular pseudoperiodic
EEG pattern that we found in 15/18 patients and observed in the first stages of the
disease could be useful in early diagnosis, especially if associated with the absence
of sleep spindles. A precise nosological classification, based both on clinical and
instrumental findings is the prerequisite for a correct genotype–phenotype correlation
that could greatly improve our knowledge of this disease, providing a better understanding
of pathogenesis and increasing our ability to treat it.
Keywords
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Article info
Publication history
Accepted:
May 6,
2001
Received in revised form:
April 10,
2001
Received:
October 12,
2000
Identification
Copyright
© 2001 Elsevier Science B.V. Published by Elsevier Inc. All rights reserved.
