Epilepsy and phenylketonuria: a case description and EEG-fMRI findings

Guida, Melania and Pesaresi, Ilaria and Fabbri, Serena and Sartucci, Ferdinando and Cosottini, Mirco and Sean Giorgi, Filippo (2014) Epilepsy and phenylketonuria: a case description and EEG-fMRI findings. Functional Neurology, 29 (1). pp. 75-79. ISSN 1971-3274

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Phenylketonuria (PKU) is characterized by phenylalanine accumulation due to phenylalanine hydroxylase deficiency. Up to 50% of PKU patients experience seizures. We evaluated an adult PKU patient who suffered from absences and primarily generalized tonic-clonic seizures, associated with generalized spike-and-wave discharges (GSWs) on EEG. An analysis of blood oxygenation level-dependent (BOLD) signal changes during interictal epileptiform discharges showed early activation of the left perirolandic cortex followed by a BOLD signal decrease within cortical regions belonging to the default mode network and left frontoparietal cortex. Moreover, deactivation of the head of the right caudate nucleus and the left thalamus was observed. The fMRI pattern observed in our patient during GSWs is similar but not identical to that observed in idiopathic generalized epilepsy, suggesting different neurophysiological mechanisms. This is the first description of BOLD-fMRI patterns in a PKU patient with epilepsy. Similar studies in more patients might help to uncover the pathophysiology of seizures in this disease.

Item Type: Article
Uncontrolled Keywords: absences, BOLD, EEG-fMRI, generalized spike-and-waves, phenylketonuria
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici)
Depositing User: Marina Spanti
Date Deposited: 16 Dec 2015 16:48
Last Modified: 16 Dec 2015 16:48
URI: http://eprints.bice.rm.cnr.it/id/eprint/11120

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