Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0038220 (status epilepticus)
 7,272 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Anoxic-epileptic seizures in Cornelia de Lange syndrome: case report of epileptic seizures induced by obstructive apnea. 1671 15