Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy: An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome

A. Romigi, C. Silvestri, L. Orlandi, A. Bozzao, F. Placidi, M. Tombini, F. Sperli, F. Izzi, P. Curatolo, M. G. Marciani

Research output: Contribution to journalArticle

Abstract

We report the case of a 24-year-old female with partial epilepsy, mental retardation, and dysmorphic facies. In EEG, a high spiking rate (HSR) was evident with abnormalities in the right frontal region. Morphological MRI showed a left temporo-mesial sclerosis and a cortical dysplasia localized in the right frontal cortex. Dynamic susceptibility contrast (DSC) MRI showed hyperperfusion in right frontal region and hypoperfusion in left fronto-temporal region. Left fronto-temporal hypoperfusion is consistent with temporo-mesial sclerosis. Right frontal hyperperfusion is related to the cortical dysplasia area with HSR. HSR may resemble both electroencephalographic and perfusional ictal pattern. DSC MRI is useful in the evaluation of regions involved in the genesis of ictal and interictal epileptiform activity. Furthermore, we hypothesize that our patient would be affected by a new possible genetic syndrome.

Original languageEnglish
Pages (from-to)307-314
Number of pages8
JournalInternational Journal of Neuroscience
Volume113
Issue number3
DOIs
Publication statusPublished - Mar 1 2003

Fingerprint

Malformations of Cortical Development
Partial Epilepsy
Sclerosis
Intellectual Disability
Atrophy
Electroencephalography
Stroke
Frontal Lobe
Temporal Lobe

Keywords

  • Cortical dysplasia
  • DSC MRI
  • EEG
  • Epilepsy
  • Interictal epileptiform activity (IEA)
  • Temporal atrophy

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy : An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome. / Romigi, A.; Silvestri, C.; Orlandi, L.; Bozzao, A.; Placidi, F.; Tombini, M.; Sperli, F.; Izzi, F.; Curatolo, P.; Marciani, M. G.

In: International Journal of Neuroscience, Vol. 113, No. 3, 01.03.2003, p. 307-314.

Research output: Contribution to journalArticle

Romigi, A. ; Silvestri, C. ; Orlandi, L. ; Bozzao, A. ; Placidi, F. ; Tombini, M. ; Sperli, F. ; Izzi, F. ; Curatolo, P. ; Marciani, M. G. / Cortical dysplasia, temporal atrophy, mental retardation, dysmorphic facies, and partial epilepsy : An EEG and dynamic susceptibility contrast (DSC) MRI study in a new possible genetic syndrome. In: International Journal of Neuroscience. 2003 ; Vol. 113, No. 3. pp. 307-314.
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