Anoxic-epileptic seizures in Cornelia de Lange syndrome: case report of epileptic seizures induced by obstructive apnea

Eur J Paediatr Neurol. 2006 May;10(3):142-4. doi: 10.1016/j.ejpn.2006.01.005. Epub 2006 May 19.

Abstract

We describe epileptic seizures including status epilepticus provoked by recurrent obstructive apnea in a child with Cornelia de Lange syndrome. From the age of 10 months, this boy had recurrent respiratory infections with obstructive apnea leading to cyanosis and loss of consciousness. Approximately, 25% of apneas were followed by clonic jerks usually lasting 10 min, but once status epilepticus. He never had unprovoked epileptic seizures. At first he was diagnosed with symptomatic epilepsy and given carbamazepine and phenobarbital, without benefit. Significant improvement occurred after his mother was taught to extract mucus from his upper airways before obstruction occurred. He is no longer on anti-epileptic drugs. With this management, he had only one episode of obstructive apnea followed by an epileptic component. The events in this child were anoxic-epileptic seizures, that is, epileptic seizures triggered by syncopes. Anoxic-epileptic seizures have not previously been described in Cornelia de Lange syndrome. This case illustrates that, even when recurrent epileptic seizures occur in patients with known structural cerebral pathology, the diagnosis of symptomatic epilepsy should not be uncritically accepted.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Child, Preschool
  • De Lange Syndrome / complications*
  • De Lange Syndrome / pathology
  • De Lange Syndrome / therapy
  • Epilepsy / etiology*
  • Epilepsy / pathology
  • Humans
  • Hypoxia
  • Male
  • Seizures / etiology*
  • Seizures / pathology
  • Sleep Apnea, Obstructive / complications*
  • Sleep Apnea, Obstructive / pathology
  • Sleep Apnea, Obstructive / therapy
  • Syncope / physiopathology