A "happy" toddler presenting with sudden, life-threatening seizures.
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.
Stein
Diane
D
Pediatric Neurology, Southern California Permanente Medical Group, Kaiser Permanente Hospital Bellflower, Bellflower, CA, USA.
Chetty
Malini
M
Rho
Jong M
JM
D017204:Angelman Syndrome / Q000150:complications / Q000175:diagnosis* / Q000178:diet therapy / Q000188:drug therapy; D000927:Anticonvulsants / Q000627:therapeutic use; D003131:Combined Modality Therapy; D055423:Diet, Ketogenic; D005260:Female; D006801:Humans; D007223:Infant; D012640:Seizures / Q000175:diagnosis* / Q000178:diet therapy* / Q000188:drug therapy / Q000209:etiology
D000927:Anticonvulsants