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Case of early childhood-onset narcolepsy with cataplexy: comparison with a monozygotic co-twin

Hiromichi Ito1, Kenji Mori, Tatsuo Mori

  • 1Department of Pediatrics, Institute of Health Biosciences, The University of Tokushima Graduate School, Tokushima, Japan.

Pediatrics International : Official Journal of the Japan Pediatric Society
|October 23, 2014
PubMed

Insights

This study details a rare case of childhood narcolepsy in a 5-year-old, highlighting potential links to head injury and contrasting symptoms with her healthy twin. Early recognition of narcolepsy with cataplexy is crucial in preschoolers with excessive daytime sleepiness.

Area of Science:

  • Neurology
  • Pediatrics
  • Sleep Medicine

Background:

  • Narcolepsy is a chronic neurological disorder affecting sleep-wake cycles.
  • Early childhood-onset narcolepsy is rare and often underdiagnosed.
  • Monozygotic twins provide a unique model for studying genetic vs. environmental influences on disease.

Observation:

  • A 5-year-old girl presented with narcolepsy symptoms, including excessive daytime sleepiness and deficits in cognitive functions.
  • Her healthy monozygotic twin exhibited normal development and behavior.
  • The primary differentiating factor identified was a history of head injury in the patient.

Findings:

  • The patient displayed introverted traits and significant impairments in memory, planning, and situational assessment, contrasting with her extroverted twin.
  • Despite cognitive differences, both twins shared similar appetite and fine motor dexterity.
  • Head injury is proposed as a potential environmental trigger for narcolepsy in genetically predisposed individuals.

Implications:

  • This case underscores the importance of considering narcolepsy with cataplexy in young children presenting with excessive daytime sleepiness.
  • Further research into environmental factors, such as head trauma, may elucidate narcolepsy's etiology.
  • Improved diagnostic awareness in pediatric populations is essential for timely intervention and management.

Keywords:
dyssomniaexcessive daytime sleepinessnarcolepsy with cataplexyorexintwin

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