Hypothalamic dysfunction without hamartomas causing gelastic seizures in optic nerve hypoplasia

J Child Neurol. 2015 Feb;30(2):233-7. doi: 10.1177/0883073814527156. Epub 2014 Apr 2.

Abstract

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.

Keywords: epilepsy; hypopituitarism; ophthalmic condition.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Central Nervous System / abnormalities*
  • Electroencephalography
  • Epilepsies, Partial / diagnosis
  • Epilepsies, Partial / etiology*
  • Female
  • Humans
  • Hypothalamic Diseases / complications*
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Optic Nerve / abnormalities*
  • Optic Nerve Diseases / complications*

Supplementary concepts

  • Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System