Aglaia Vignoli, Elena Zambrelli, Valentina Chiesa, Miriam Savini, Francesca La Briola, Elena Gardella, Maria Paola Canevini
We describe the electroclinical characteristics of epilepsy in 22 adult patients with Down syndrome (11 males, 11 females), with a mean age of 46 years (range: 28-64 years), followed at the Epilepsy Centre, San Paolo Hospital in Milan. Mean age at epilepsy onset was 36.8 years (range: 6-60 years). Nine out of 22 patients had focal epilepsy, while nine had late-onset myoclonic epilepsy. In four patients, epilepsy was unclassified. The EEG pattern of our patients was characterised by a progressive slowing of the background activity with sharp-and-slow waves with frontal predominance. In the patients diagnosed with late-onset myoclonic epilepsy, the EEGs showed generalised polyspike waves. Three subjects had an episode of myoclonic status epilepticus at the beginning or in the course of the disorder. After the first descriptions of late-onset myoclonic epilepsy by Genton and Paglia (1994), this is one of the largest patient cohorts reported. Our data confirm that epilepsy in adult patients with Down syndrome presents peculiar electroclinical characteristics which should be recognized early as prompt, effective treatment may be beneficial.
<i>[Published with video sequences]</i>
Roberto Horacio Caraballo, María del Rosario Aldao, Pedro Cachia
syndrome and benign childhood epilepsy with centro-temporal spikes (BCECTS), one of whom developed a particular electroclinical picture of atypical benign focal epilepsy and the other an atypical evolution characterized by verbal auditory agnosia and aphasia. The third patient had clinical and electroencephalographic features of BCECTS and of idiopathic childhood occipital epilepsy (Gastaut type) which evolved into electroclinical features of continuous spikes and waves during slow sleep (CSWS). All three patients presented with two focal idiopathic epilepsies with a particular evolution associated with CSWS, supporting the concept of benign childhood seizure susceptibility syndrome as described by Panayiotopoulos (1993).
when motor manifestations are the main clinical features. For the large majority of patients, such motor manifestations have a benign course. A correct diagnosis is important to avoid inappropriate investigations, unnecessary therapy, and parental anxiety. Here, a previously unreported form of non-epileptic attacks with infantile onset is described which is different from all subtypes of Fejerman syndrome and does not appear to be uncommon. Our series includes 23 patients with an age at onset of the paroxysmal events ranging from 3 to 8 months. The characteristic feature is side-to-side shaking movements of the trunk and limbs. Surprisingly, urinary infection is often a false diagnosis. Home video recording is particularly helpful in recognising the nature of these episodes once their existence is known.
<i>[Published with video sequences]</i>
Hiroshi Kataoka, Takayuki Shinkai, Takao Kiriyama, Yasuyo Tonomura, Satoshi Ueno
continua and neurological deterioration associated with hemiatrophy. Cranial MRI showed cerebral atrophy in the left frontal, parietal, and temporal lobes, without abnormal intensity. Delayed IMZ SPECT showed widespread decreased accumulation of tracer in the left temporal and frontal regions. An early scan showed mildly decreased accumulation in the left temporal and frontal regions. Three-dimensional stereotactic surface projection (3D-SSP) analysis showed that the decreased regions on delayed IMZ images were slightly larger as compared with the previous IMZ study performed. Some regions without decreased accumulation of tracer on Tc-ECD or early IMZ images showed decreased accumulation on delayed IMZ images. This case study suggests that benzodiazepine receptors may be reduced in the affected hemisphere of patients with Rasmussen's encephalitis.
Emilija Cvetkovska, Sasho Panov
alone or in varying combinations, and have a strong genetic background. We present two three-generation families with juvenile myoclonic epilepsy (JME) probands and other affected family members with different forms of IGE in whom genetic anticipation was possible,
<i>i.e</i>. the progressive decrease in age at onset with each successive generation. In the first family, the proband presented with JME with all three seizure types with an age at onset of eight years. Her cousin presented with both absence seizures and myoclonic jerks simultaneously at age 14 years, and GTCS occurred one year later. The proband's mother had her first seizures at the age of 39 years (brief myoclonic jerks and subtle absences predated GTCS by a few months). In the second family, the proband and his younger brother presented with JME at the age of 13 years, their mother experienced a single GTCS at the age of 38 years, while the grand-mother died during
<i>de novo</i> generalised status at the age of 62 years. To our knowledge, this is one of the few reports to describe the occurrence of possible genetic anticipation in IGE which should be further investigated in larger cohorts of patients.
Mohammad Sayyah, Fateme Kamgarpour, Mehri Maleki, Morteza Karimipoor, Kourosh Gharagozli, Ahmad Reza Shamshiri
studies do not confirm any link between
<i>ABCB1</i> C3435T polymorphism and drug resistance. Yet, if patients with comparable clinical status (same type of epilepsy, antiepileptic drugs, epilepsy onset and gender) are evaluated, the link between
<i>ABCB1</i> polymorphisms and drug resistance may be unmasked. We studied the association between C3435T and G2677T/A
<i>ABCB1</i> gene polymorphisms and drug resistance in Iranian epilepsy patients.</p><p>Two hundred healthy subjects and 332 epilepsy patients (200 drug-responsive and 132 drug-resistant) were selected. Genotypes were determined by polymerase chain reaction followed by restriction fragment length polymorphism or the amplification refractory mutation system.</p><p>The risk of drug resistance was higher in patients with a C/T genotype than in those with C/C or T/T genotypes at position 3435 in patients with cryptogenic epilepsy (p=0.01). A higher risk of drug resistance was observed in adult patients with a C/C genotype than in those with a T/T genotype at position 3435 (25.8%
<i>vs</i> 15.8%, p=0.01). The risk of drug resistance was also higher in female patients with a C/C genotype than in those with a T/T genotype at position 3435 (26.8%
<i>vs</i> 16.3%, p=0.04). No significant association was found between G2677T/A polymorphism and epilepsy drug resistance in the different subgroups of patients.</p><p>Iranian adult female patients with a C/C genotype at position 3435 of the
<i>ABCB1</i> gene have a higher risk of resistance to antiepileptic drugs. Replication studies with large sample sizes are needed to confirm the results.</p>
Tsukasa Higuchi, Tetsuhiro Fukuyama, Yuka Misawa, Yuji Inaba, Motoki Ichikawa, Kenichi Koike
characterised by the extension of both arms and rhythmic jerking of her upper body. No abnormal findings were noted on brain magnetic resonance imaging. Interictal electroencephalography (EEG) showed spike-and-wave activity on central electrode recording, and rhythmic fast activity was recorded by central electrodes during the ictal EEG upon micturition. The combination of clobazam and phenytoin was effective for both unprovoked and reflex seizures. Although some previous reports have described reflex seizures triggered by either micturition or defecation, this is the first case report of reflex seizures induced by both micturition and defecation in the same patient. Based on a comparison with previous cases of reflex seizures induced either by micturition or defecation, the neuronal pathway from the pelvic base musculature to the supplementary motor area may be responsible for the condition in our patient.
Jaina Panchani, Patrick Adjei, Christian Henneberger, Catherine A. Scott, Alan J. Thompson, Beate Diehl, Matthew C. Walker, Rainer Surges
to this controversy. Lateralised seizure activity in individual patients may provide valuable insights into cortical regulation of cardiac function. We report two patients with focal epilepsy who had seizures arising from both hemispheres. In Patient 1, heart rate increased over two-fold with seizures arising from the right hemisphere, whereas heart rate increased invariably less with seizures arising from the left hemisphere. In Patient 2, heart rate increased 1.3 fold or less with seizures arising from the left hemisphere, whereas a seizure with right-sided onset was followed by bradycardia and asystole. Our findings support the notion that effects on autonomic function are lateralised, although lateralisation varies from patient to patient. This may partially explain the difficulty in determining cortical representation of cardiac autonomic function.
Petronella J. Van den Berg, Geert J.F. Brekelmans
the EEG repeatedly showed activity at different electrodes consisting of spikes with varying amplitude, rhythmicity and frequency, mimicking polyspikes. Both low- and high-amplitude spikes were generated from the same electrodes, however, only the low-amplitude spikes coincided with features of the child's electrocardiogram. Video monitoring showed the child's head resting on her mother‘s chest. This spike pattern was shown to be a heart beat artefact originating from the mother, as implied by the rhythmicity and the shift to other electrodes by moving the child's head, causing electrocardiogram artefacts on the posterior electrodes. This case study underscores the importance of routine use of simultaneous electroencephalogram and video monitoring.
<i>[Published with video sequences]</i>
Ioannis Karakis, Andrew J. Cole, Daniel B. Hoch, Nutan Sharma
and low prevalence. The paroxysmal, stereotypical nature of non-epileptic paroxysmal movement disorders, as well as the potential response to benzodiazepines, renders these disorders susceptible to misdiagnosis as epileptic seizures. We report a case of paroxysmal non-kinesigenic dyskinesia which was misdiagnosed and treated as epilepsy for decades. The major pathophysiological, diagnostic and therapeutic hallmarks of the disease are summarised. Familiarity and inclusion of the disease in the list of conditions that mimic epilepsy, as well as prolonged video-EEG recordings, may prevent diagnostic delays and unnecessary or belated treatments.
<i>[Published with video sequences]</i>
H. Jacobus Gilhuis, Jolanda Schieving, Machiel J. Zwarts
seizures which occur independently and sequentially from both hemispheres. The clinical course of a four-month-old boy with this syndrome, illustrated by video material of the seizures and EEG recordings, is described. The possible neurophysiological mechanism of epileptogenic activity alternating or ‘migrating’ from one hemisphere to the other is discussed.
Samir Kumar Praharaj, Sujit Sarkhel, Imon Paul, Anshuman Tripathi, Mohammad Zia-ul-Haq Katshu, Vinod Kumar Sinha
and psychosis, thus causing diagnostic difficulties. We report an unusual case of NCSE which presented as psychosis-like episodes at regular intervals. The confirmation of diagnosis was aided by serial electroencephalography.
Stefano Pro, Franco Randi, Patrizia Pulitano, Edoardo Vicenzini, Oriano Mecarelli
hyperglycaemia-induced seizures are often focal and secondary to the presence of brain lesions. Moreover, in the few studies in which language disorders of epileptic origin have been reported as a clinical manifestation of non-ketotic hyperglycaemia, the disorders were usually not isolated but were followed by partial motor seizures. We describe a patient who presented with non-convulsive partial status epilepticus and whose only sign was a fluctuating language disorder induced by non-ketotic hyperglycaemia. There were no accompanying brain lesions and the patient responded optimally to diazepam. Neurophysiological EEG evaluation was fundamental for the diagnosis.
Domenico Italiano, Rosario Grugno, Rocco Salvatore Calabrò, Placido Bramanti, Franco Di Maria, Edoardo Ferlazzo
visual aura of migraine. We herein describe a 35-year-old woman with recurrent occipital seizures, clinically presenting with intractable headache. EEG monitoring was crucial in order to reach the correct diagnosis.
Mohammad Bodaghabadi, Mohammad Ali Bitaraf, Shima Aran, Mazdak Alikhani, Hossein Ashrafian, Alireza Zahiri, Mahmud Alahverdi
13-year-old boy with intractable epilepsy who underwent radiosurgical callosotomy. The patient demonstrated significant clinical improvement after gamma knife radiosurgery and was free of seizures 10 months after the procedure. However, He developed four short focal seizures with clonic movements during the 20 months post radiosurgery. Corpus callosotomy decreased epileptiform discharges in both hemispheres, indicating a role for the callosal neurons to facilitate an asymmetric epileptogenic susceptible state within the two hemispheres such that bisynchronous and bisymmetrical epileptiform discharges develop. Our result demonstrates that this novel therapeutic approach is a safe and effective option for the treatment of intractable generalised epilepsies.
Nese Dericioglu, Serap Saygi, Nejat Akalan
to patients with isolated HH, neurological dysfunction and precocious puberty are uncommon and seizures are usually well controlled with anticonvulsant medication. Therefore, conservative management of HH is advised. To the best of our knowledge, seven cases of PHS with surgical resection of the HH have so far been reported. Five patients were either seizure-free or had >90% seizure reduction postoperatively. Here, we present a case of PHS of a patient who also underwent transcallosal endoscopic resection of the HH with a subsequent 70% reduction in seizure frequency.
Francesco Brigo, Luigi Giuseppe Bongiovanni, Roberto Cerini, Paolo Manganotti, Monica Storti, Antonio Fiaschi
infliximab-related seizures. We describe a patient who acutely developed seizures temporally related to infliximab treatment, which disappeared after drug withdrawal. MRI showed encephalopathy involving mainly cortical regions and EEGs showed focal paroxysmal activity which completely disappeared a few days after infliximab withdrawal. No other plausible cause of the seizures was identified. The clear temporal association between seizure onset and infliximab treatment as well as the clinical improvement and disappearance of focal epileptiform activity after drug withdrawal indicated an evident correlation between seizures and infliximab therapy. The coexistence of pathological findings on MRI suggested that seizures were secondary to the encephalopathy. Further studies are required to evaluate whether infliximab
<i>per se</i> has an epileptogenic effect or whether the seizures are caused by encephalopathy involving cortico-subcortical regions.