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Invited Editorial Comment
Original article
A distinct variant of focal cortical dysplasia type I characterised by magnetic resonance imaging and neuropathological examination in children with severe epilepsies
Ingmar Blümcke, Tom Pieper, Elisabeth Pauli, Michelle Hildebrandt, Manfred Kudernatsch, Peter Winkler, Anja Karlmeier, Hans Holthausen
resection is variable. This applies in particular to young children with multilobar FCDs, suffering from severe epilepsies and psychomotor retardation. Herein, we performed a comparative analysis of presurgically available data and microscopic inspection of resected cortical specimens to further characterise the pathomorphological spectrum of FCD. Multilobar resection procedures were performed in a consecutive series of 18 young children (mean 7.6 years) with severe pharmaco-resistant epilepsies following extensive presurgical surface-/invasive video-EEG monitoring intraoperative electro-corticography (iECoG), as well as high resolution MRI. In all cases, systematic neuropathological examination of surgical specimens was performed with respect to architectural abnormalities and cell density measurements. These histomorphological data were compared with volumetric MRI analysis. Histopathological examination revealed increased neuronal densities correlating with decreased cortical thickness and abundance of neuronal microcolumns in all cases. Intriguingly, the affected cerebral hemisphere was significantly smaller, relative to the non-epileptogenic contralateral side, in 16 children of our patient series. In conclusion, hypoplastic neocortex and columnar architectural disorganisation point to compromised cortical development, and appear as distinct FCD I subtype in children suffering from severe epilepsies and psychomotor retardation.
Type I focal cortical dysplasia: surgical outcome is related to histopathology
Laura Tassi, Rita Garbelli, Nadia Colombo, Manuela Bramerio, Giorgio Lo Russo, Francesco Deleo, Gloria Milesi, Roberto Spreafico
histopathological diagnosis of type I focal cortical dysplasia (FCD I), alone or associated with other lesions. The patients were divided into five sub-groups: i) 66 with isolated FCD I, ii) 76 with FCD I and hippocampal sclerosis, iii) 49 with FCD I and tumours, iv) 16 with FCD I and other malformations of cortical development and v) eight with FCD I and anoxic-ischaemic or inflammatory diseases. The duration of epilepsy was greatest in patients with FCD I associated with hippocampal sclerosis, and those with isolated FCD I showed the highest seizure frequency at the time of surgery. Hippocampal sclerosis and tumours were the most frequent pathological lesions associated with FCD I in temporal lobe epilepsy. Febrile seizures significantly correlated with the presence of hippocampal sclerosis and FCD I. Isolated FCD I was observed in 31% of the patients, characterized by frequent seizures, negative magnetic resonance imaging, and frequent frontal or multilobar involvement. In comparison to patients with FCD I associated with hippocampal sclerosis, MCD or tumours, the patients with isolated FCD I had a worse post-surgical outcome (46% in class I). Our findings indicate that there is a high incidence of FCD I associated with other apparently distinct pathologies, particularly those affecting the temporal lobe, and highlight the need for a comprehensive clinicopathological approach for the classification of FCD I.
Detection of microchromosomal aberrations in refractory epilepsy: a pilot study
Jacinta M McMahon, Ingrid E Scheffer, Jillian K Nicholl, Wendy Waters, Helen Eyre, Lyn Hinton, Paul Nelson, Sui Yu, Leanne M Dibbens, Samuel F Berkovic, John C Mulley
microdeletions or microduplications, which might also relate to epilepsy refractory to medication. Chromosomes from 20 subjects with epilepsy and repeated failure of antiepileptic medication were examined using molecular methods. Firstly, the 41 subtelomeric regions were scanned using fluorescence in situ hybridization and multiplex ligation-dependent probe amplification. Secondly, a genome-wide scan was carried out using oligonucleotide-array comparative genome hybridisation on two platforms: Nimblegen and Agilent. Two aberrations (2/20) were identified: a recurrent microdeletion at 15q13.3 previously characterised in patients with seizures that generally respond to medication, and a novel 1.15 Mb microchromosomal duplication at 10q21.2 also present in the unaffected mother. We conclude that gene content of microchromosomal aberrations is not a major cause of refractory seizures, but that microchromosomal anomalies are found in an appreciable fraction of such cases.
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
Jacques Rochette, Patrice Roll, Ying-Hui Fu, Anne Gaëlle Lemoing, Barbara Royer, Agathe Roubertie, Patrick Berquin, Jacques Motte, Sau Wei Wong, Alasdair Hunter, Andrée Robaglia-Schlupp, Louis J Ptacek, Pierre Szepetowski
paroxysmal kinesigenic dyskinesia (PKD)], co-inherited as a single autosomal dominant trait, have been described (infantile convulsions with paroxysmal choreoathetosis; ICCA syndrome) and a disease gene has been mapped at chromosome 16p12-q12 (ICCA region). We report the clinical picture of seven previously unreported families with ICCA syndrome. The identification of novel ICCA families should contribute to better knowledge regarding the clinical manifestations of ICCA syndrome as well as the search for the underlying genetic defect(s).
Benign infantile focal epilepsy with midline spikes and waves during sleep: a new epileptic syndrome or a variant of benign foc
Santiago Flesler, Diego Sakr, Ricardo Cersósimo, Roberto Caraballo
patients were examined at our department between February 2003 and February 2009, with onset of seizures between six and 13 months of age (mean, 10.2 months; median, 11 months). Patients with cryptogenic and symptomatic focal epilepsies were excluded. Sex, age, familial history, type of seizures and AED treatment were noted and EEG monitoring, MRI and CT scanning, and developmental and psychomotor evolution were investigated.ResultsPatients included five males and two females. All patients suffered from seizures during wakefulness. Two of the patients (29%) did not have a recurrence. Five (71%) had sporadic seizures (ranging between two and five). One of the seven patients (14%) presented with seizures in clusters. During seizures, staring was observed in six (86%), motion arrest in five (71%), stiffening in five (71%), cyanosis in three (42%), automatisms in one (14%) and lateralizing signs in four (57%). Two patients (29%) had secondary generalisation. The duration of the seizures ranged between 30 seconds and five minutes. No status epilepticus was observed. The interictal EEG recording during sleep showed low-voltage unilateral or bilateral spikes located in the central and vertex regions, followed by slow waves in all patients. Outcome was excellent in all patients.ConclusionWe believe that BIMSE is a new syndrome rather than an early presentation of benign epilepsy of childhood with centrotemporal spikes, Panayiotopoulos syndrome, or a late presentation of benign focal infantile seizures.
Study of cardiac autonomic function in drug-naïve, newly diagnosed epilepsy patients
Peter Mativo, Javad Anjum, Cauchy Pradhan, Talakad N Sathyaprabha, Trichur R Raju, Parthasarathy Satishchandra
in epilepsy patients. In this study we have investigated cardiac autonomic parameters in order to evaluate autonomic functions of drug-naïve epilepsy patients. Method. Twenty drug-naïve patients (15 males and 5 females) with epilepsy, and an equal number of age and gender matched controls, were evaluated for short-term resting heart rate variability and conventional cardiovascular autonomic measurements. Results. The mean age of patients was 29.30 ± 9.80 yrs (17-55 yrs), mean age at seizure onset was 19.70 ± 9.15 yrs (3-40 yrs) and mean length of time since last seizure was 5.60 ± 7.00 days (1-30 days). While there was no difference in the resting heart rate or conventional autonomic test parameters, time domain heart rate variability measurements showed a decreased percentage of R-R intervals of less than 50 ms and root mean square of R-R intervals in patients, when compared to controls. Frequency domain parameters showed a decreased total power (patients: 1,796.58 ± 1,052.45 ms
<sup>2</sup>; controls: 2,934.23 ± 1,767.06 ms
<sup>2</sup>, p = 0.008). Parameters indicative of decreased vagal tone, i.e. decreased high frequency power and increased low to high frequency ratio (patients: 1.69 ± 0.94; controls: 1.14 ± 0.64, p = 0.045), were observed among patients compared to controls. Conclusion. Subtle but definite cardiac autonomic dysfunction, especially in vagal tone, was identified in drug-naïve, new-onset epilepsy patients. Seizures can cause long-term and often progressive cardiac autonomic dysfunction which may be independent of concomitant antiepileptic drugs.
Interictal epileptiform discharges and phasic phenomena of REM sleep
Petr Busek, Jitka Buskova, Sona Nevsimalova
and IEDs during REM sleep were examined by video-EEG monitoring. The number of IEDs was calculated in different REM sleep episodes according to the rate of rapid eye movements. A negative correlation was identified between the occurrence of rapid eye movements and IEDs, indicating that the suppression of propagation of IEDs during REM sleep is enhanced by phasic REM sleep events, probably as a result of phasic activation of cholinergic neurons of the ponto-mesencephalic tegmentum. This study demonstrates that the degree of EEG desynchronization and IEDs is influenced by REM density.
Clinical commentary
Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 1
Simona Giovannini, Daniele Frattini, Angela Scarano, Carlo Fusco, Gianna Bertani, Elvio Della Giustina, Paola Martinelli, Daniela Orteschi, Marcella Zollino, Giovanni Neri, Giuseppe Gobbi
and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
Sleep spindle activity in double cortex syndrome: a case report
Emilia Sforza, Jean-Pierre Marcoz, Giovanni Foletti
wave pattern. During the course of the disease, the child developed electrical status epilepticus in slow wave sleep. From the first examination, sleep pattern revealed increased frequency and amplitude of spindle activity, more evident in anterior areas. The role of the thalamocortical pathway in increased sleep spindle activity is discussed with emphasis on the possible role of altered thalamocortical pathways in abnormal cortical migration. A strong suspicion of cortical dysgenesis may therefore be based on specific EEG sleep patterns.
Clinical commentary
Paroxysmal tonic eye deviation: an atypical presentation of hypothalamic hamartoma
Ivana Olivieri, Federica Teutonico, Simona Orcesi, Grazia Papalia, Carla Uggetti, Stefano Bastianello, Umberto Balottin, Pierangelo Veggiotti
In this case study, we have examined a child who presented with an atypical onset of benign paroxysmal gaze deviation between two to three months of age. The patient subsequently developed gelastic seizures at age 13. Based on the observation that hypothalamic hamartomas do not involve any functional region involved in eye motility, we speculate that both gaze deviation and gelastic seizures are a manifestation of the epileptogenic nature of the hypothalamic hamartoma. [Published with video sequences]
Bathing epilepsy: a video case of an autonomic seizure
Katrien Jansen, Jan Vervisch, Lieven Lagae
was taken during and after a shower and confirmed ictal high voltage repetitive slow waves over the left temporal lobe. Bathing epilepsy or water immersion epilepsy is a rare form of reflex epilepsy often presenting with autonomic seizures. The onset is usually in the first year of life and the evolution is benign. [Published with video sequences]
Refractory nonconvulsive status epilepticus in Creutzfeldt-Jakob disease
Maria Aiguabella, Mercè Falip, Misericordia Veciana, Jordi Bruna, Antoni Palasí, Luisa Corral, Jose-Ignacio Herrero, Susana Boluda, Jaume Mora, Alex Iranzo, Carme Serrano
behavioural changes, cerebellar dysfunction and myoclonus. Other seizure types are rare and nonconvulsive status epilepticus (SE) is exceptional. We report a case of a 44-year-old man who presented a psychotic episode followed by akinetic mutism and refractory nonconvulsive SE. The final diagnosis was CJD. Continuous video-EEG monitoring revealed the ictal pattern of nonconvulsive SE to be periodic sharp wave complexes characteristic of CJD. [Published with video sequences]
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