Unique Characteristics of the Photoparoxysmal Response in Patients With Neuronal Ceroid Lipofuscinosis Type 2: Can EEG Be a Biomarker?

J Child Neurol. 2016 Nov;31(13):1475-1482. doi: 10.1177/0883073816658659. Epub 2016 Jul 21.

Abstract

Objective: The objective was to identify unique features of the photoparoxysmal response seen in patients with neuronal ceroid lipofuscinosis type 2 as compared to patients with a photoparoxysmal response associated with other epilepsy syndromes.

Methods: Electroencephalograms from patients with neuronal ceroid lipofuscinosis type 2 seen at the authors' institution in the past 10 years as well as electroencephalograms (EEGs) reported to have a photoparoxysmal response during a single year were reviewed.

Results: A photoparoxysmal response was seen in 60% of the patients with neuronal ceroid lipofuscinosis type 2. This was most commonly seen with low frequency intermittent photic stimulation (76%) which often occurred in a time-locked fashion (63%) and was seen on the patient's initial EEG (78%). A unique pattern the authors called "sentinel" discharge was identified in 30% of EEGs in patients with neuronal ceroid lipofuscinosis.

Conclusions: Photoparoxysmal responses in patients with neuronal ceroid lipofuscinosis type 2 have features which are distinguishing from photoparoxysmal responses seen in other epilepsies.

Keywords: electroencephalogram (EEG); neuronal ceroid lipofuscinosis; pediatric epilepsy; photic stimulation; photoparoxysmal response.

MeSH terms

  • Adolescent
  • Brain / physiopathology*
  • Child
  • Child, Preschool
  • Electroencephalography*
  • Epilepsy, Absence / complications
  • Epilepsy, Absence / diagnosis
  • Epilepsy, Absence / physiopathology
  • Female
  • Humans
  • Neuronal Ceroid-Lipofuscinoses / complications
  • Neuronal Ceroid-Lipofuscinoses / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses / physiopathology*
  • Photic Stimulation*
  • Photosensitivity Disorders / complications
  • Photosensitivity Disorders / diagnosis
  • Photosensitivity Disorders / physiopathology
  • Retrospective Studies