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Cortical dysplasia of right fronto-temporal region

Sandra Perobelli, Franco Alessandrini, Giada Zoccatelli, Elena Nicolis, Alberto Beltramello, Baroukh M Assael, Marco Cipolli
Shwachman-Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and variable cognitive impairments. Structural brain abnormalities (smaller head circumference and decreased brain volume) have also been reported. No correlation studies between brain abnormalities and neuropsychological features have yet been performed. In this study we investigate neuroanatomical findings, neurofunctional pathways and cognitive functioning of Shwachman-Diamond syndrome subjects compared with healthy controls...
2015: NeuroImage: Clinical
A Romigi, C Silvestri, L Orlandi, A Bozzao, F Placidi, M Tombini, F Sperli, F Izzi, P Curatolo, M G Marciani
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...
March 2003: International Journal of Neuroscience
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