Excessive fragmentary hypnic myoclonus in a patient affected by a mitochondrial encephalomyopathy.
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Adult↗
Biomedical subjects
Flavio Villani
Publications and source records attributed to Flavio Villani.
Vagal nerve stimulation: relationship between outcome and electroclinical seizure pattern.
In recent years, vagal nerve stimulation (VNS) has been proposed as a possible way to improve the control of refractory (partial and generalized) seizures. To date, however, there is no complete understanding of the underlying mechanism for this action nor are there any available guidelines or criteria for the selection of those candidates that might be most suitable for this kind of neuromodulating surgery. This report presents evidence that should be helpful in defining the clinical criteria for using VNS for the treatment of refractory seizures. We report on 17 patients with severe partial refractory epilepsy and polymorphous seizures, who have been operated on previously or who were excluded from epilepsy surgery and for whom, at least, one seizure type has been electrographically recorded. Sixteen of these patients also had falling seizures. Our objective was to identify responders and to correlate the outcome of their seizures with the EEGraphic onset of their seizure. Follow-up ranged from 4 to 9 years. The results of this study indicate a significant reduction of seizures in only four patients and better outcome in patients where the onset of seizure activity occurred in the temporal area. Patients with frontal or frontocentral seizures resulted in the poorest outcomes. In four patients with Lennox-Gastaut syndrome VNS produced no significant reduction of seizures, while falling seizures decreased significantly in three patients with retropulsive falls. These results of this small series of patients suggest that VNS might be more suitable in patients with temporal rather than frontal or central seizure onset. Further studies are required to support this hypothesis.
Adult↗
Sensorimotor organization in double cortex syndrome.
Subcortical band heterotopia is a diffuse malformation of cortical development related to pharmacologically intractable epilepsy. On magnetic resonance imaging (MRI), patients with "double cortex" syndrome (DCS) present with a band of heterotopic gray matter separated from the overlying cortex by a layer of white matter. The function and connectivity of the subcortical heterotopic band in humans is only partially understood. We studied six DCS patients with bilateral subcortical band heterotopias and six healthy controls using functional MRI (fMRI). In controls, simple motor task elicited contralateral activation of the primary motor cortex (M1) and ipsilateral activation of the cerebellum and left supplementary motor area (SMA). All DCS patients showed task-related contralateral activation of both M1 and the underlying heterotopic band. Ipsilateral motor activation was seen in 4/6 DCS patients. Furthermore, there were additional activations of nonprimary normotopic cortical areas. The sensory stimulus resulted in activation of the contralateral primary sensory cortex (SI) and the thalamus in all healthy subjects. The left sensory task also induced a contralateral activation of the insular cortex. Sensory activation of the contralateral SI was seen in all DCS patients and secondary somatosensory areas in 5/6. The heterotopic band beneath SI became activated in 3/6 DCS patients. Activations were also seen in subcortical structures for both paradigms. In DCS, motor and sensory tasks induce an activation of the subcortical heterotopic band. The recruitment of bilateral primary areas and higher-order association normotopic cortices indicates the need for a widespread network to perform simple tasks.
Adolescent↗
Periventricular nodular heterotopia: classification, epileptic history, and genesis of epileptic discharges.
PURPOSE: Periventricular nodular heterotopia (PNH) is among the most common malformations of cortical development, and affected patients are frequently characterized by focal drug-resistant epilepsy. Here we analyzed clinical, MRI, and electrophysiologic findings in 54 PNH patients to reevaluate the classification of PNH, relate the anatomic features to epileptic outcome, and ascertain the contribution of PNH nodules to the onset of epileptic discharges. METHODS: The patients were followed up for a prolonged period at the Epilepsy Center of our Institute. In all cases, we related MRI findings to clinical and epileptic outcome and analyzed interictal and ictal EEG abnormalities. In one patient, EEG and stereo-EEG (SEEG) recordings of seizures were compared. RESULTS: We included cases with periventricular nodules, also extending to white matter and cortex, provided that anatomic continuity was present between nodules and malformed cortex. Based on imaging and clinical data, patients were subdivided into five PNH groups: (a) bilateral and symmetrical; (b) bilateral single-noduled; (c) bilateral and asymmetrical; (d) unilateral; and (e) unilateral with extension to neocortex. The latter three groups were characterized by worse epileptic outcome. No differences in outcome were found between unilateral PNH patients regardless the presence of cortical involvement. Interictal as well as ictal EEG abnormalities were always related to PNH location. CONCLUSIONS: The distinctive clinical features and epileptic outcomes in each group of patients confirm the reliability of the proposed classification. Ictal EEG and SEEG recordings suggest that seizures are generated by abnormal anatomic circuitries including the heterotopic nodules and adjacent cortical areas.
Adolescent↗
Prolonged focal negative motor seizures: a video-EEG study.
PURPOSE: Focal negative motor (akinetic) seizures are rare ictal events that are diagnostically challenging because they are difficult to differentiate from postictal Todd paresis, transient ischemic attacks, migraine events, and psychogenic episodes. METHODS: We describe a 45-year-old man in whom, after surgical drainage of a right frontoparietal subdural hematoma, prolonged episodes developed with flaccid paralysis of the left arm. RESULTS: A video-EEG recording demonstrated a close relation between the focal motor impairment and a clear-cut epileptic ictal discharge involving the right perirolandic cortical areas. CONCLUSIONS: On the basis of the electroclinical data, we hypothesize the involvement of the primary motor area in the genesis of the epileptic discharge triggering focal negative seizures.
Brain Mapping↗
Semantic memory in partial epilepsy: verbal and non-verbal deficits and neuroanatomical relationships.
Semantic memory was evaluated in 124 epilepsy patients, including 84 with left (n=44) or right temporal lobe epilepsy (TLE) (n=40) and 40 with left (n=25) or right frontal lobe epilepsy (FLE) (n=15), in order to determine their verbal and visual deficits, and the neuroanatomical relationships between them. The controls were 35 healthy subjects. Semantic memory was assessed by means of Picture Naming, Picture Pointing, the verbal Pyramid and Palm Trees Test (PPTT), the visual PPTT, Object Decision Hard, and Drawing From Memory. Episodic memory was assessed by means of the Short Story, Rey's Complex Figure, the Verbal and Visual Selective Reminding Procedure and Brown-Peterson Procedure. Factor analysis of the epilepsy patients distinguished their semantic memory scores from other neuropsychological domains. The semantic memory factor was significantly related to the side of the epileptic region, with lower scores in the left hemisphere and left TLE patients. In comparison with the controls, the left TLE patients were significantly impaired on Picture Naming, Picture Pointing, and Object Decision Hard. Subsequent analyses showed that, in comparison with the controls and the right TLE patients, the left TLE patients with lateral temporal lobe lesions were impaired in Picture Naming whereas, in comparison with the controls, the left TLE patients with mesial temporal lobe lesions were impaired in Object Decision Hard. On the contrary, the episodic memory factor was not related to the side of the epileptic region, and a few material-specific tests revealed opposite impairments in the left and right hemisphere patients. These results show that left TLE may cause semantic memory deficits involving verbal and visual information. Unlike the material-specific pattern of episodic memory, this pattern of impairment is in line with the view of an amodal semantic store in which all of the information about a thing overlaps. The semantic memory impairment may reflect damage in the lateral and mesial temporal lobe regions that impair neocortical functions in storing and retrieving information or hippocampal functions in processing meaningful stimuli.
Adult↗
Epileptic and imaging findings in perinatal hypoxic-ischemic encephalopathy with ulegyria.
Hypoxic-ischemic encephalopathy due to fetal or neonatal asphyxia is a major cause of acute mortality and chronic disability involving cerebral palsy, seizures, and mental retardation. The gestational age of the infant is one of the main variables determining the neuropathological picture of hypoxic-ischemic brain injury, and ulegyria (one of its neuropathological correlates) typically affects full-term infants. The damage usually involves the deeper sulcal portion of the convolutions while sparing the crowns, and includes subcortical white matter atrophy and gliosis. The aim of this study was to characterize the electroclinical features of hypoxic-ischemic encephalopathy when ulegyria is one of its main neuropathological features. To this end, nine patients with MRI-proven ulegyria and epilepsy underwent a complete neurological work-up. The ulegyric lesions were mainly distributed in the parasagittal watershed areas and frequently associated with other hypoxic-ischemic lesions. The neurological picture was characterized in most patients by mental retardation, motor deficits, and drug-refractory partial epilepsy. The ulegyria in our patients was associated with a complex clinical picture: epilepsy was a prominent component, and its severity directly correlated with the extent of the ulegyria and the associated hypoxic-ischemic lesions. Drug refractoriness was an almost constant correlate of this form of symptomatic epilepsy.
Adolescent↗