A Case of Neuronal Ceroid Lipofuscinosis Masquerading as Panayiotopoulos Syndrome

Abstract

Neuronal ceroid lipofuscinosis (NCL) is probably the most common group of childhood progressive neurodegenerative disorders that typically present in childhood, and are uniformly fatal. We present here an unusual case of NCL based on clinical and electroencephalographic features as well as review the current literature on the early features of NCL. The purpose is to alert physicians about the atypical presentations of NCL encountered in clinical practice and to broaden their differential considerations so that earlier diagnoses can be made. In particular, patients presenting with epilepsy and behavioral problems who show developmental regression warrant further investigation.

Keywords

neuronal ceroid lipofuscinosis - Panayiotopoulos syndrome - pediatric epilepsy - electroencephalographic

Note

All authors developed the concept of the case report and reviewed the case history. All authors participated in drafting of the manuscript and all authors had final approval of the manuscript prior to submission.

• References

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