Journal of Pediatric Epilepsy 2016; 05(01): 047-052
DOI: 10.1055/s-0035-1567855
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Case of Neuronal Ceroid Lipofuscinosis Masquerading as Panayiotopoulos Syndrome

Dara Albert
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
Emily De Los Reyes
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
Jorge Vidaurre
1   Division of Pediatric Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, Ohio, United States
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16. März 2015

04. Mai 2015

15. Dezember 2015 (online)


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.


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.

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