Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia.
This report describes gelastic seizures in patients with optic nerve hypoplasia and hypothalamic dysfunction without hypothalamic hamartoma. All participants (n = 4) from the optic nerve hypoplasia registry study at Children's Hospital Los Angeles presenting with gelastic seizures were included. The clinical and pathology characteristics include hypothalamic dysgenesis and dysfunction, but no hamartomas. Optic nerve hypoplasia is the only reported condition with gelastic seizures without hypothalamic hamartomas, suggesting that hypothalamic disorganization alone can cause gelastic seizures.
The Vision Center, Division of Ophthalmology, Children's Hospital Los Angeles, Los Angeles, CA, USA cfink@chla.usc.edu.
Cassandra
C
Fink
The Vision Center, Division of Ophthalmology, Children's Hospital Los Angeles, Los Angeles, CA, USA.
Mark
M
Borchert
North Shore - Long Island Jewish Health System at Hofstra University, Long Island, NY, USA.
Carrie Zaslow
CZ
Simon
Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Clifford
C
Saper
D002490:Central Nervous System / Q000002:abnormalities*; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007027:Hypothalamic Diseases / Q000150:complications*; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D009901:Optic Nerve Diseases / Q000150:complications*
epilepsy; hypopituitarism; ophthalmic condition