N170 Asymmetry as an Index of Inferior Occipital Dysfunction in Patients With Symptomatic Occipital Lobe Epilepsy

Objective: Localizing epileptic foci in posterior brain epilepsy remains a difficult exercise in surgery for epilepsy evaluation. Neither clinical manifestations, neurological, EEG nor neuropsychological evaluations provide strong information about the area of onset, and fast spread of paroxysms often produces mixed features of occipital, temporal and parietal symptoms. We investigated the usefulness of the N170 event-related potential to map epileptic activity in these patients. Methods: A group of seven patients with symptomatic posterior cortex epilepsy were submitted to a high-resolution EEG (78 electrodes), with recordings of interictal spikes and face-evoked N170. Generators of spikes and N170 were localized by source analysis. Range of normal N170 asymmetry was determined in 30 healthy volunteers. Results: In 3 out of 7 patients the N170 inter-hemispheric asymmetry was outside control values. Those were the patients whose spike sources were nearest (within 3 cm) to the fusiform gyrus, while foci further away did not affect the N170 ratio. Conclusions: N170 event-related potential provides useful information about focal cortical dysfunction produced by epileptic foci located in the close neighborhood of the fusiform gyrus, but are unaffected by foci further away. Significance: The N170 evoked by faces can improve the epileptic foci localization in posterior brain epilepsy.

Analysis of the Generators of Epileptic Activity in Early-Onset Childhood Benign Occipital Lobe Epilepsy

Objective: The Panayiotopoulos type of idiopathic occipital epilepsy has peculiar and easily recognizable ictal symptoms, which are associated with complex and variable spike activity over the posterior scalp areas. These characteristics of spikes have prevented localization of the particular brain regions originating clinical manifestations. We studied spike activity in this epilepsy to determine their brain generators. Methods: The EEG of 5 patients (ages 7–9) was recorded, spikes were submitted to blind decomposition in independent components (ICs) and those to source analysis (sLORETA), revealing the spike generators. Coherence analysis evaluated the dynamics of the components. Results: Several ICs were recovered for posterior spikes in contrast to central spikes which originated a single one. Coherence analysis supports a model with epileptic activity originating near lateral occipital area and spreading to cortical temporal or parietal areas. Conclusions: Posterior spikes demonstrate rapid spread of epileptic activity to nearby lobes, starting in the lateral occipital area. In contrast, central spikes remain localized in the rolandic fissure. Significance: Rapid spread of posterior epileptic activity in the Panayitopoulos type of occipital lobe epilepsy is responsible for the variable and poorly localized spike EEG. The lateral occipital cortex is the primary generator of the epileptic activity.

Origin of Frontal Lobe Spikes in the Early Onset Benign Occipital Lobe Epilepsy (Panayiotopoulos Syndrome)

Objective: Early onset benign occipital lobe epilepsy (Panayiotopoulos syndrome [PS]) is a common and easily recognizable epilepsy. Interictal EEG spike activity is often multifocal but most frequently localized in the occipital lobes. The origin and clinical significance of the extra-occipital spikes remain poorly understood. Methods: Three patients with the PS and interictal EEG spikes with frontal lobe topography were studied using high-resolution EEG. Independent component analysis (ICA) was used to decompose the spikes in components with distinct temporal dynamics. The components were mapped in the scalp with a spline-laplacian algorithm. Results: The change in scalp potential topography from spike onset to peak, suggests the contribution of several intracranial generators, with different kinetics of activation and significant overlap. ICA was able to separate the major contributors to frontal spikes and consistently revealed an early activating group of components over the occipital areas in all the patients. The local origin of these early potentials was established by the spline-laplacian montage. Conclusions: Frontal spikes in PS are consistently associated with early and unilateral occipital lobe activation, suggesting a posteroanterior spike propagation. Significance: Frontal spikes in the PS represent a secondary activation triggered by occipital interictal discharges and do not represent an independent focus.

Comparison of Methods and Co-Registration Maps of EEG and fMRI in Occipital Lobe Epilepsy

Clinically childhood occipital lobe epilepsy (OLE) manifests itself with distinct syndromes. The traditional EEG recordings have not been able to overcome the difficulty in correlating the ictal clinical symptoms to the onset in particular areas of the occipital lobes. To understand these syndromes it is important to map with more precision the epileptogenic cortical regions in OLE. Experimentally, we studied three idiopathic childhood OLE patients with EEG source analysis and with the simultaneous acquisition of EEG and fMRI, to map the BOLD effect associated with EEG spikes. The spatial overlap between the EEG and BOLD results was not very good, but the fMRI suggested localizations more consistent with the ictal clinical manifestations of each type of epileptic syndrome. Since our first results show that by associating the BOLD effect with interictal spikes the epileptogenic areas are mapped to localizations different from those calculated from EEG sources and that by using different EEG/fMRI processing methods our results differ to some extent, it is very important to compare the different methods of processing the localization of activation and develop a good methodology for obtaining co-registration maps of high resolution EEG with BOLD localizations.

Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type.

The BOLD Effect of Interictal Spike Activity in Childhood Occipital Lobe Epilepsy

Occipital lobe epilepsy (OLE) presents in childhood with different manifestations, age of onset and EEG features that form distinct syndromes. The ictal clinical symptoms are difficult to correlate with onset in particular areas in the occipital lobes, and the EEG recordings have not been able to overcome this limitation. The mapping of epileptogenic cortical regions in OLE remains therefore an important goal in our understanding of these syndromes.

Cardiologia Pré-Natal. Da Suspeita à Confirmação

The mortality rate is high and prognosis is worse among new-borns with prenatal diagnosis of heart malformation, mainly due to factors such as its association with other malformations, and a range of more severe diseases probably resulting from the predominance of the obstetric use of the four chamber view. In this study we retrospectively assessed the range of cardiopathies diagnosed by foetal echocardiography and their evolution, compared with previous years. From January 1994 to December 1995, 1173 foetal echocardiograms were performed at a gestation age of 24 weeks. Sixty-one foetuses (5.2%) had cardiac anomalies, structural in 56 and arrhythmia in 5. The risks and indications were maternal in 37%, foetal in 31%, familial in 17% and environmental in 15%. Three were false negatives (VSD:2; truncus arteriosus: 1). Five died in utero, and 18 were assessed after birth with a mean gestational age of 37 weeks and birth weight of 3 Kg, a caesarean section was performed in 9. All but one were born in central hospitals. Six children were operated on. Two children died, one after surgery. Compared with the four previous years of activity, indication due to foetal risk rose from 6 to 31%, the number of cases diagnosed with heart disease increased from 14 to 30 per year, and the mortality decreased from 59 to 11%. Despite this, we still observe that the vast majority of new-borns who are hospitalised due to a severe heart disease had no prenatal diagnosis, indicating the need to continue our educational policy in this field.

Tratamento Cirúrgico dos Defeitos do Septo Auriculo-Ventricular. Experiência Uni-Institucional

OBJECTIVES: Atrio-ventricular septal (AVSD) defects include a variable spectrum of congenital malformations with different forms of clinical presentation. We report the surgical results, from a single institution, with this type of congenital cardiac malformation. Patients with hypoplasia of one of the ventricles were excluded from this analysis. POPULATION: Between November of 1998 and June of 2005, 49 patients with AVSD were operated on by the same team and in the same department. The average age was 37.3 months (medium 6 months) and 31 patients were female. In 38 patients (78%) an inter-ventricular communication was present (AVSD-complete) and of these, 26 were of the type A of Rastelli, being 13 of type B or C. The age for defect correction of the complete form was of 5.5 months, palliative surgery was not carried out on any of the patients. Associated lesions included: Down's syndrome in 22 patients (45%), patent arterial duct in 17 patients (35%), severe AV regurgitation in 4 patients (8%), tetralogy of Fallot in two (4%) and sub-aortic stenosis in one patient (2%). Pre-operatively 10 patients presented severe congestive heart failure and two were mechanically ventilated. RESULTS: Complete biventricular correction was carried out in all patients. The average time on bypass (ECC) was 74.1+/-17.5 min. and time of aortic clamping was 52.0+/-12.9 min. The complete defects were corrected by the double patch technique, and in all patients the mitral cleft was closed, except in two with single papillary muscle. There was no intra-operative mortality, but hospital mortality was 8%(4 patients), due to pulmonary hypertension crises, in the first 15 post-operative days. The mean ventilation time was of 36.5+/-93 hours (medium 7 h) and the average ICU stay was of 4.3+/-4.8 days (medium 3 days). The minimum follow-up period is 1 month and the maximum is 84 months (medium 29.5 months), during which time 4 re-operations (8%) took place: two for residual VSD's and two for mitral regurgitation. There was no mortality at re-do surgery. At follow up there was residual mitral regurgitation, mild in 17 patients and moderate in two. Four other patients presented with minor residual defects. CONCLUSIONS: The complete correction of AVSD can be carried out with acceptable results, in a varied spectrum of anatomic forms and of clinical severity. Despite the age of correction, for the complete forms, predominantly below 12 months, pulmonary hypertension was the constant cause for post operative mortality. Earlier timing of surgery and stricter peri-operative control might still improve results.

Results of Surgery for Ebstein Anomaly: a Multicenter Study from the European Congenital Heart Surgeons Association

OBJECTIVE: Since most centers' experience with Ebstein anomaly is limited, we sought to analyze the collective experience of participating institutions of the European Congenital Heart Surgeons Association with surgery for this rare malformation. METHODS: The records of all 150 patients (median age 6.4 years) who underwent surgery for Ebstein anomaly in the 13 participating Association centers between January 1992 and January 2005 were reviewed retrospectively. Patients with congenitally corrected transposition were excluded. RESULTS: Most patients (81%) had Ebstein disease type B or C and significant functional impairment (61% in New York Heart Association class III or IV) and 16% had prior operations. Surgical procedures (n = 179) included valve replacement (n = 60, 33.5%), valve repair (n = 49, 27.3%), 1(1/2) ventricle repair (n = 46, 25.6%), palliative shunt (n = 13, 7.26%), and other complex procedures (n = 11, 6.14%). There were 20 hospital deaths (operative mortality 13.3%) after valve replacement in 5 patients, valve repair in 3, 1(1/2) ventricle repair in 7, palliative procedures in 3, and miscellaneous procedures in 2. Younger age and palliative procedures were univariate risk factors for operative death, but only age was an independent predictor on multivariable analysis. CONCLUSIONS: Most patients coming to surgery presented in childhood and were significantly symptomatic. More than half underwent valve replacement or repair, but a considerable proportion had severe disease necessitating 1(1/2) ventricle repair or palliative procedures. Operative mortality did not differ significantly among repair, replacement, and 1(1/2) ventricle repair but was associated with palliative procedures for severe disease early in life, young age being the only independent predictor of operative death.

Epilepsy and Cerebral Palsy: Characteristics and Trends in Children Born in 1976 - 1998

Background: Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy. Aims: To describe epilepsy in children with CP, and to examine the association between epilepsy and neonatal characteristics, associated impairments and CP subtypes. Methods: Data on 9654 children with CP born between 1976 and 1998 and registered in 17 European registers belonging to the SCPE network (Surveillance of Cerebral Palsy in Europe)were analyzed. Results: A total of 3424 (35%) children had a history of epilepsy. Among them, seventy-two percent were on medication at time of registration. Epilepsy was more frequent in children with a dyskinetic or bilateral spastic type and with other associated impairments. The prevalence of CP with epilepsy was 0.69 (99% CI, 0.66e0.72) per 1000 live births and followed a quadratic trend with an increase from 1976 to 1983 and a decrease afterwards. Neonatal characteristics independently associated with epilepsy were the presence of a brain malformation or a syndrome, a term or moderately preterm birth compared with a very premature birth, and signs of perinatal distress including neonatal seizures, neonatal ventilation and admission to a neonatal care unit. Conclusions: The prevalence of CP with epilepsy followed a quadratic trend in 1976e1998 and mirrored that of the prevalence of CP during this period. The observed relationship between epilepsy and associated impairments was expected; however it requires longitudinal studies to be better understood.

Case for Diagnosis

A 27 year-old-man, with no known personal or familial history of disease, mentioned a 10-year history of asymptomatic groups of telangiectasias, with a Blaschko lines distribution on the right lateral aspect of the neck and asymptomatic. He denied any episodes of disease or drug intake that could be associated with the disease. Blood work had no changes, namely of liver enzymes or infectious serologies. The clinical diagnosis of Idiopathic Acquired Unilateral Nevoid Telangiectasia was made, an uncommon, benign vascular malformation. The patient declined doing a cutaneous biopsy or treatment with a cosmetic intent.

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.

Neuropsychological Abnormalities in Children with the Panayiotopoulos Syndrome Point to Parietal Lobe Dysfunction

Panayiotopoulos syndrome (PS) is a common epilepsy syndrome associated with rare clinical seizures and unknown localization of the epileptogenic area. Despite findings of normal development in patientswith PS, recent neuropsychological studies point to subtle and diverse cognitive impairments. No well-outlined hypothesis about the localization of the brain dysfunction responsible for these impairments has been proposed.We further explored the cognitive dysfunctions in PS andmade inferences on the most likely anatomical localization of brain impairment. A group of 19 patients (aged 6–12) with PS was rated according to spike activity and lateralization. The patients were submitted to a neuropsychological evaluation to assess general intelligence, memory, language, visual–perceptual abilities, attention, and executive functions. Using 35-channel scalp EEG recordings, the N170 face-evoked event-related potential (ERP)was obtained to assess the functional integrity of the ventral pathway. All patientswith PS showed normal IQ but subtle and consistent neurocognitive impairments. Namely, we found abnormalities in the copy task of the Rey–Osterrieth Complex Figure and in theNarrative Memory Test. There was no correlation between neuropsychological impairments with spike activity and hemispheric spike lateralization. The N170 ERP was normal in all patients except for one. Our neuropsychological findings demonstrate impairments in visual–perceptual abilities and in semantic processing. These findings, paired with the absence of occipital lobe dysfunction in all neuropsychological studies of PS performed to this date, support the existence of parietal lobe dysfunction.