A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies.
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.
Trinka
E
E
Universitätsklinik für Neurologie, Innsbruck, Austria. trinka@netway.at
Rauscher
C
C
Nagler
M
M
Moroder
T
T
Ladurner
G
G
Irnberger
E
E
Sperl
W
W
Pilz
P
P
D002529:Cerebellar Nuclei / Q000002:abnormalities* / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis* / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000706:statistics & numerical data; D008326:Mammillary Bodies / Q000002:abnormalities* / Q000473:pathology; D009421:Nervous System Malformations / Q000175:diagnosis / Q000473:pathology; D009847:Olivary Nucleus / Q000002:abnormalities* / Q000473:pathology; D013036:Spasms, Infantile / Q000175:diagnosis / Q000473:pathology; D013577:Syndrome; D015899:Tomography, Emission-Computed, Single-Photon / Q000706:statistics & numerical data