Gelastic seizures misdiagnosed as gastroesophageal reflux disease.
Gastroesophageal reflux disease can have variable manifestations including regurgitation, irritability, arching, choking, and apnea. The disorder is also frequently mistaken for seizures (Sandifer syndrome). We report 6 patients in whom the opposite phenomenon occurred: their seizures were mistaken for gastroesophageal reflux disease. Six of 77 patients (6.8%) with gelastic seizures and epilepsy symptomatic of hypothalamic hamartomas were noted to be misdiagnosed with gastroesophageal reflux disease in infancy. As is typical in these patients, gelastic seizures were not diagnosed until months, or often years, later. Delayed diagnosis of hypothalamic hamartomas can lead to a potentially deleterious syndrome involving refractory epilepsy, developmental problems, and precocious puberty. Gelastic seizures should be considered among the conditions that can mimic reflux symptoms.
Sweetman
Laura L
LL
Division of Pediatric Neurology, Barrow Neurological Institute and Children's Health Center, St. Joseph's Hospital and Medical Center, Phoenix, Arizona 85013, USA.
Ng
Yu-Tze
YT
Kerrigan
John F
JF
D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004828:Epilepsies, Partial / Q000473:pathology*; D005260:Female; D005764:Gastroesophageal Reflux / Q000175:diagnosis*; D006222:Hamartoma / Q000473:pathology*; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000473:pathology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012640:Seizures