Abstract
The 18q- syndrome is due to (terminal) deletion in the long arm of chromosome 18 with
variable break points. The phenotype is also variable, with a variety of dysmorphisms,
neurological deficits possibly related to haploinsufficiency of the gene for myelin
basic protein, and frequent cardiac problems. The diagnosis of paroxysmal events in
18q- syndrome presents difficulties because both epileptic seizures and cardiac syncopes
might be expected to occur. Autonomic seizures are epileptic seizures consisting of
episodic alterations of autonomic function that are elicited by activation of autonomic
cortical centres. In such events confusion with syncope is even more likely. A previous
case of autonomic seizures masquerading as syncope in an adult has been reported.
The present report is the first to describe autonomic seizures in 18q- syndrome in
a child. Very frequent episodes of prolonged apnoea with profound oxygen desaturation
was associated with a focal EEG discharge, arising from either the right temporal
or left temporal region. As in the adult patient referred to, the seizures ceased
on carbamazepine. No systematic studies of incidence have been published, but autonomic
epileptic seizures simulating non-epileptic syncopes may be a feature of 18q- syndrome
Keywords
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References
- Neurologic manifestations in 18q- syndrome.Am J Med Genet. 1990; 37: 128-132
- Autonomic seizures versus syncope in 18q- deletion syndrome: a case report.Epilepsia. 2000; 41: 1039-1043
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Article info
Publication history
Accepted:
September 19,
2003
Received in revised form:
September 12,
2003
Received:
July 14,
2003
Footnotes
☆The paper is based on the lecture given at the sixth annual meeting of the Infantile Seizure Society, Tokyo, March 15–16, 2003.
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
