A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies

Epilepsia. 2001 Jul;42(7):950-3. doi: 10.1046/j.1528-1157.2001.042007950.x.

Abstract

We report a patient with early infantile epileptic encephalopathy (EIEE) with suppression-burst (Ohtahara syndrome) associated with olivary-dentate dysplasia and agenesis of mamillary bodies is reported. Although those with Ohtahara syndrome are a heterogeneous group, virtually all reported cases are secondary to neuronal migrational disorders, sometimes only identified by detailed neuropathologic examination, as in this case report, which describes mamillary body agenesis as a not-yet-recognized anomaly associated with Ohtahara syndrome. All children with Ohtahara syndrome should have high-resolution magnetic resonance imaging (MRI) and detailed postmortem neuropathologic examinations.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Nuclei / abnormalities*
  • Cerebellar Nuclei / pathology
  • Cerebral Cortex / abnormalities
  • Cerebral Cortex / pathology
  • Electroencephalography / statistics & numerical data
  • Epilepsy / diagnosis*
  • Epilepsy / pathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging / statistics & numerical data
  • Mammillary Bodies / abnormalities*
  • Mammillary Bodies / pathology
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / pathology
  • Olivary Nucleus / abnormalities*
  • Olivary Nucleus / pathology
  • Spasms, Infantile / diagnosis
  • Spasms, Infantile / pathology
  • Syndrome
  • Tomography, Emission-Computed, Single-Photon / statistics & numerical data