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Epileptic apnea in a trisomy 18 infant

Tomohiro Kumada1, Ryuichi Nishii, Tatsuya Higashi

  • 1Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga 524-0022, Japan. tkumada@mccs.jp

Pediatric Neurology
|December 17, 2009
PubMed

Insights

Epileptic apnea, a rare complication in infants with Trisomy 18 (Edwards syndrome), was successfully treated with zonisamide. Differentiating it from central apnea is vital to avoid harmful treatments.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Trisomy 18 (Edwards syndrome) commonly presents with neurological issues like hypotonia, intellectual disability, and central apnea.
  • Epilepsy is also a frequent complication in children with Trisomy 18.
  • However, epileptic apnea has not been previously documented in this population.

Purpose of the Study:

  • To report the first case of epileptic apnea in an infant with Trisomy 18.
  • To describe the diagnostic methods used to identify the condition.
  • To highlight the importance of distinguishing epileptic apnea from central apnea for appropriate treatment.

Main Methods:

  • Case report of an infant with Trisomy 18 experiencing apneic episodes.
  • Utilized ictal electroencephalogram (EEG) to capture seizure activity during apnea.
  • Employed positron emission tomography (PET) scans, including [(11)C] flumazenil and [(18)F] fluorodeoxyglucose, to localize seizure origin.
  • Assessed treatment response to zonisamide.

Main Results:

  • The infant presented with monthly clusters of apneic episodes starting at 10 months of age.
  • Diagnostic evaluations confirmed the apneic episodes as complex partial seizures (autonomic seizures).
  • Seizure origin was localized to the left frontotemporal area, potentially linked to cortical microdysgenesis.
  • Treatment with zonisamide led to successful resolution of the epileptic apnea.

Conclusions:

  • Epileptic apnea is a previously unreported complication in infants with Trisomy 18.
  • Accurate diagnosis through EEG and advanced neuroimaging is crucial.
  • Distinguishing epileptic apnea from central apnea is critical, as treatments for central apnea can be detrimental in cases of epileptic apnea.

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