Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma.
Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. The patient presented at 4 months old with recurrent, almost persistent, gelastic seizures consisting of laughter bouts without mirth. The seizures were noticeable at the first week of life and increased in frequency to last up to 12 hours, namely status gelasticus. These gelastic fits were accompanied with focal motor seizures, including unilateral right-eye blinking and mouth twitching. Developmental mile-stones were intact for age. Magnetic resonance imaging of the cortex demonstrated a large hypothalamic hamartoma within the third ventricle, hampering cerebrovascular fluid drainage of the lateral ventricles. An electroencephalography was nondiagnostic. Ictal fluorodeoxyglucose-positron emission tomography demonstrated a large circumscribed hypermetabolic region within the location of the hypothalamic hamartoma, representing localized intense epileptiform activity. The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.
Shahar
Eli
E
Child Neurology Unit and Epilepsy Service, Meyer Children Hospital, Rambam Medical Center, Haifa 31096, Isreal. e_shahar@rambam.health.gov.il
Goldsher
Dorit
D
Genizi
Jacob
J
Ravid
Sarit
S
Keidar
Zohar
Z
D000927:Anticonvulsants / Q000627:therapeutic use*; D002998:Clonazepam / Q000627:therapeutic use*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000209:etiology / Q000473:pathology*; D005260:Female; D006222:Hamartoma / Q000150:complications / Q000473:pathology*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000150:complications / Q000473:pathology*; D007223:Infant; D049268:Positron-Emission Tomography; D012640:Seizures / Q000209:etiology / Q000473:pathology*; D016896:Treatment Outcome
D000927:Anticonvulsants; D002998:Clonazepam