Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report

Medicine (Baltimore). 2018 Apr;97(15):e0299. doi: 10.1097/MD.0000000000010299.

Abstract

Introduction: Progressive myoclonic epilepsy (PME) is rare epilepsy syndrome. Although EEG is a useful neurophysiological technique in the evaluation of epilepsy, few EEG abnormalities have been described in PME. So, how to use EEG hints to establish the suspected diagnosis of PME as soon as possible should be addressed.

Case present: We presented a case with refractory myoclonic seizures, and progressive neurological deterioration, diagnosed as PME and neuronal ceroid lipofuscinosis disease by gene testing. The patient manifested with a significant regression in her speech ability and motor balance. The mini-mental state examination showed poor scores of 15/30. The magnetic resonance imaging showed diffused atrophy. Her EEG showed slow background with continuous occipital small spikes and photosensitivity. The following genetic testing with mutation in CLN6 confirmed the diagnosis and excluded the occipital epilepsy.

Conclusion: Our case showed rare manifestations and special EEG features of PME, which may be confused with occipital epilepsy or photosensitive epilepsy. Thus, if the continuous occipital spikes and photosensitivity were presented in a patient with refractory seizures and developmental regression, PME should be considered.

Publication types

  • Case Reports

MeSH terms

  • Anticonvulsants / administration & dosage
  • Atrophy
  • Cerebral Cortex* / diagnostic imaging
  • Cerebral Cortex* / pathology
  • Diagnosis, Differential
  • Disease Progression
  • Electroencephalography / methods
  • Epilepsies, Partial / diagnosis*
  • Female
  • Humans
  • Levetiracetam
  • Magnetic Resonance Imaging / methods
  • Membrane Proteins / genetics
  • Mental Status and Dementia Tests
  • Mutation
  • Myoclonic Epilepsies, Progressive / diagnosis*
  • Neuronal Ceroid-Lipofuscinoses* / diagnosis
  • Neuronal Ceroid-Lipofuscinoses* / genetics
  • Neuronal Ceroid-Lipofuscinoses* / physiopathology
  • Neuronal Ceroid-Lipofuscinoses* / therapy
  • Occipital Lobe* / diagnostic imaging
  • Occipital Lobe* / physiopathology
  • Photosensitivity Disorders
  • Piracetam / administration & dosage
  • Piracetam / analogs & derivatives*
  • Valproic Acid / administration & dosage*
  • Young Adult

Substances

  • Anticonvulsants
  • CLN6 protein, human
  • Membrane Proteins
  • Levetiracetam
  • Valproic Acid
  • Piracetam