A "happy" toddler presenting with sudden, life-threatening seizures.

Abstract

Angelman syndrome is often associated with medically refractory epilepsy. Here, we report the case of a young girl with Angelman syndrome who experienced frequent and prolonged atonic seizures associated with dysautonomia and was unresponsive to multiple antiepileptic drugs, but who responded dramatically to the ketogenic diet. Clinicians are encouraged to consider the ketogenic diet early in the treatment course of patients with Angelman syndrome.

• Authors: Diane Stein, Malini Chetty, Jong M Rho
• Journal: Seminars in pediatric neurology (Semin Pediatr Neurol) Vol. 17 Issue 1 Pg. 35-8 (Mar 2010) ISSN: 1558-0776 [Electronic] United States
• PMID: 20434691 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2010 Elsevier Inc. All rights reserved.

Chemical References

• Anticonvulsants

Topics

• Angelman Syndrome (complications, diagnosis, diet therapy, drug therapy)
• Anticonvulsants (therapeutic use)
• Combined Modality Therapy
• Diet, Ketogenic
• Female
• Humans
• Infant
• Seizures (diagnosis, diet therapy, drug therapy, etiology)