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Original article
Temporal changes in brain MRI findings in Rasmussen syndrome
Etsuko Yamazaki, Yukitoshi Takahashi, Noriyuki Akasaka, Tateki Fujiwara, Yushi Inoue
the status and evolutionary changes in MRI lesions to identify the MRI characteristics of RS.
<i>Methods.</i> MRI of 15 RS patients was examined regarding frequency and distribution of atrophic lesions on T1-weighted images and high intensity lesions on FLAIR or T2-weighted images.
<i>Results</i>. In 13 patients, atrophic lesions were observed predominantly in the frontal lobes with various extent of involvement. High intensity lesions were also observed in 13 patients. High intensity lesions were significantly more prevalent in the cortex of patients with later onset and were present in the insula in 37.5% of epilepsia partialis continua (EPC) type patients and in 57.1% of non-EPC type. Early MRI showed various combinations of atrophic lesions or high intensity lesions in seven of nine patients who underwent MRI examinations within one year of their first seizure. Serial MRI revealed high intensity lesions with characteristic features of regression (20.0% of patients), fluctuation (regression followed by reappearance; 33.3%) and expansion (46.7%). Appearance and reappearance of high intensity lesions in the cortex and/or subcortical white matter were associated with aggravation of seizures. Bilateral high intensity lesions were observed in three patients with unilateral epileptogenic foci, who were successfully treated by surgical intervention.
<i>Conclusion</i>. Dynamic evolutionary changes in lesions (regression, fluctuation and expansion of high intensity lesions), as observed on MRI, may be a diagnostic feature of Rasmussen syndrome.
Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23)
Marcella Broli, Francesca Bisulli, Massimo Mastrangelo, Elena Fontana, Isabella Fiocchi, Claudio Zucca, Maria Clara Bonaglia, Serafino Buono, Sebastiano Antonino Musumeci, Corrado Romano, Santina Reitano, Maria Savio, Girolamo Aurelio Vitello, Bruno Bernardi, Daniela Cevolani, Raffaele Agati, Roberto Poda, Roberto Gallassi, Roberto Giorda, Orsetta Zuffardi, Bernardo Dalla Bernardina, Marco Seri, Paolo Tinuper
examination, brain magnetic resonance imaging (except for two patients), electroencephalography and a neuropsychological assessment specific for language disturbances were performed in nine patients with microduplication at Xp11.22-11.23, disclosed by comparative genomic hybridisation array. Six patients were familial cases belonging to three unrelated pedigrees and three were sporadic cases. The patients had the following characteristics: mild dysmorphic facial features (except for two patients), mental retardation with moderate to severe global language deterioration, electroencephalographic epileptiform discharges during wakefulness and especially during sleep or electrical status epilepticus during slow sleep in younger cases, and negative brain magnetic resonance imaging. The main clinical features of this new microduplication syndrome were mild facial dysmorphisms, from increased electroencephalogram abnormalities during sleep to electrical status epilepticus during slow sleep, and mental retardation mainly involving language function in the absence of detectable brain lesions. In the absence of detectable brain lesions, speech delay may be associated with electrical status epilepticus during slow sleep or, alternatively, related to abnormal brain expression of a dosage-sensitive gene contained within the duplication region.
Original article
Non-convulsive status epilepticus of frontal origin as the first manifestation of Hashimoto's encephalopathy
Giulia Monti, Matteo Pugnaghi, Alessandra Ariatti, Laura Mirandola, Giada Giovannini, Silvia Scacchetti, Paolo Nichelli, Stefano Meletti
the diagnosis is often difficult. Several case reports of Hashimoto's encephalopathy presenting with partial or generalised seizures are described, but only a few have focused on status epilepticus as the first clinical manifestation. We report two patients presenting with repetitive and prolonged seizures characterised by progressive reduction in contact and reactivity associated with frontal/diffuse polyspike-and-wave activities. This condition, which can be interpreted as a form of non-convulsive status epilepticus (NCSE) of frontal origin, was refractory to antiepileptic drugs but responded promptly to high doses of intravenous steroid treatment. In cases of unexplained encephalopathy with EEG documentation of NCSE, the early recognition and treatment of Hashimoto's encephalopathy may lead to a favourable prognosis.
<i>[Published with video sequences]</i>
A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
Gabriella Di Rosa, Sonia Messina, Adele D’Amico, Enrico Bertini, Giuseppina Pustorino, Maria Spanò, Gaetano Tortorella
epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases.
<i>[Published with video sequences]</i>
Quality of life in patients with partial-onset seizures under adjunctive therapy with zonisamide: results from a prospective non-interventional surveillance study
Christoph Helmstaedter, Hermann Stefan, Juri-Alexander Witt
sample of patients with partial-onset seizures in everyday clinical practice. Changes in quality of life (QOL) and health status were also recorded. Clinical status was assessed before and 4 months after introduction of ZNS. The herein reported evaluation of QOL and health status was based on a representative subsample of 207 patients. In this subgroup, a reduced QOL had been apparent in 68% of patients at baseline. After introduction of ZNS, all measures improved, with ameliorations in QOL in up to 35% of patients. Major determinants for a better QOL outcome were (1) a better score at baseline, (2) a higher degree of seizure reduction, and (3) a lower number of concomitant AEDs. Tolerability was subjectively rated as good by 89% of patients. With a ZNS dose of 244.8±108 mg/d at study end, seizure frequency had dropped from 8.8±19.2 within 8 weeks before baseline to 3.6±9.1 seizures within the period of 8 weeks before study end. A total of 79% of patients responded to ZNS treatment with a ≥50% reduction in seizure frequency; 34% became seizure free. In conclusion, adjunctive treatment with ZNS seems to be efficacious and well tolerated. QOL improvement was predicted by baseline score, seizure outcome, and overall drug load, and is thus more likely a result of enhanced seizure control, rather than an intrinsic psychotropic effect of zonisamide.
Lamotrigine is favourable for startle-induced seizures
Hiroko Ikeda, Katsumi Imai, Hitoshi Ikeda, Hideo Shigematsu, Takeo Shishido, Rumiko Takayama, Tateki Fujiwara, Yukitoshi Takahashi, Yushi Inoue
are often refractory to conventional medications, effective therapeutic options have to be established. We report a small series of six patients treated with lamotrigine (LTG) as add-on therapy. Seizure control was improved greatly in three of the six patients, resulting in less restricted daily life, but no effect was observed in two and a skin rash developed in one. Patient 1 was a 19-year-old man. His seizure comprised of a sudden tonic extension of the extremities induced by auditory or visual stimulus. He fell down due to SISs, five to ten times a day, with frequent injuries. After adding LTG to treatment with valproate (VPA) and clobazam (CLB), SISs were reduced to once a month. Patient 2 was a 51-year-old woman. Sudden tonic extension of all limbs induced by unexpected sounds frequently threw her down onto the floor. Addition of LTG to treatment with CLB, zonisamide and phenytoin reduced her SISs from several to less than once a day. Patient 3 was a seven-year-old girl with post-encephalitic epilepsy. After adjunctive treatment of LTG to VPA, the severity of SISs became milder thus avoiding injury, although seizure frequency did not decrease. LTG is potentially effective for the treatment of SISs and may prevent falling. The addition of LTG treatment dramatically improved the lives of the patients presented here and should be considered as an option for startle-induced seizures.
“Benign” myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency
Nicolas Gaspard, Arvid Suls, Catheline Vilain, Peter De Jonghe, Patrick Van Bogaert
epilepsy of infancy. Eventually, he had a poor outcome with refractory generalised tonic-clonic, myoclonic and absence seizures, ataxia, significant mental impairment and slowing of head growth. He responded poorly to ketogenic diet. This case extends the phenotype of GLUT1-related syndromes and also sheds light on the genetic basis of myoclonic epilepsies of infancy suggesting that variable outcome may depend on genetic factors.
<i>[Published with video sequences]</i>
Clinical commentary
Superselective anterior temporal resection in mesial temporal lobe epilepsy
Joacir Graciolli Cordeiro, Kathrin Wagner, Michael Trippel, Josef Zentner, Andreas Schulze-Bonhage
of the right hippocampus and right mammillary body atrophy. Neuropsychological testing revealed deficits in selective attention and visual planning. Non-invasive recording was not sufficient to precisely detect the seizure onset zone. Invasive recording showed seizure onset in the temporo-polar neocortex, with spread to the amygdalum and hippocampus. A superselective resection of the temporal pole and amygdalum was performed with preservation of the hippocampus. Histology revealed the presence of focal cortical dysplasia (Palmini type Ib). Seizure frequency was reduced after surgery, and seizure freedom for two years was achieved with optimisation of the antiepileptic drug regime. Memory functions were preserved, and selective attention and visual planning improved following limited resection. This case suggests that, in selected cases, highly targeted resections with preservation of memory-relevant structures may be the best choice considering both seizure control and unimpaired cognitive functioning.
Confusion and SIRPIDs regress with parenteral lorazepam
Peter W. Kaplan, Josh Duckworth
debate regarding urgency of treatment. In a patient with SIRPIDs, aphasia and confusion,
<i>i.v</i>. lorazepam during EEG resulted in improved level of consciousness, return of verbal interaction and regression of SIRPIDs. This suggests that some forms of SIRPIDs may be associated with an ictal confusional state.
Clinical commentary
Transient parietal hand syndrome after cortical resection
Joel M. Oster, Diana Apetauerova, Christine Thomas, G. Rees Cosgrove
in order to cure focal and disabling epilepsy. Contemporaneously during the resection and while awake intraoperatively, the patient developed features characterised by involuntary, purposeless, and almost ballistic movements of the contralateral left upper extremity. These involved the shoulder and, more distally, the arm with less involvement of the hand itself and some clonic movement at the elbow, persisting for approximately 24 hours after surgery. Although identified in only one case in our series, we have named the resulting clinical phenomenology “parietal hand syndrome”. A Medline search does not reveal any other such case in the English literature with the clinical elements and actual video documentation of neurological examination noted in our case report in the immediate post-operative setting. In this regard, this is a unique clinical report.
<i>[Published with video sequences]</i>
A case imitating Panayiotopoulos syndrome
Feray Bolukbasi, Irem Hamamcioglu, Veysi Demirbilek, Burak Dogangun, Aysin Dervent
of emetic symptoms may cause misdiagnosis, for example with some organic disorders which have similar autonomic features. On the other hand, since this syndrome has been recently well documented, the tendency for early recognition may lead to overdiagnosis. Here, we present a case which could be mistaken for Panayiotopoulos syndrome based on anamnesis, however, with the aid of ictal video-EEG monitoring, the patient was shown to present with a non-epileptic psychogenic seizure. This report is an example of careful evaluation in order to avoid over- or underdiagnosis of this benign disorder.
<i>[Published with video sequences]</i>
Perioral myoclonia with absences and myoclonic status aggravated by oxcarbazepine
Pascal Vrielynck, Nino Rostomashvili, Elodie Degroote, Sophie Ghariani, Kenou van Rijckevorsel
is associated with a seizure type that appears to be specific. Here, we report polygraphic recordings of this seizure type in a young boy, previously misdiagnosed with focal epilepsy. EEG and clinical features were useful to differentiate diagnosis of his seizures from other absence or myoclonic seizures. Interestingly, some seizures were associated with neck myoclonia. Home video recording of myoclonic status aggravated by inappropriate treatment is also presented.
<i>[Published with video sequences]</i>
Recurrence of childhood absence epilepsy as pyknolepsy in adolescence
Elissa G. Yozawitz, Morris H. Scantlebury, Julie Robinson, Rana Jehle, Solomon L. Moshé
of his EEG showed the same 3-Hz generalised spike-wave discharge as in his previous EEG in childhood. To our knowledge, this is the first case report describing recurrence of childhood absence epilepsy as pyknolepsy in an adolescent.
<i>[Published with video sequences]</i>
Fronto-polar epilepsy masquerading as juvenile myoclonic epilepsy
Mark R. Keezer, Jean-Marc Saint-Hilaire, Dang Khoa Nguyen
days and MRI brain revealed that the patient's somatosensory events with associated postictal aphasia, as well as her myoclonic and generalised tonic-clonic seizures, were likely due to a symptomatic left fronto-polar epilepsy. Our case emphasizes the need for clinicians to consider fronto-polar epilepsy as a potential cause of myoclonic seizures, particularly when associated with other semiologic features suggestive of frontal lobe epilepsy.
<i>[Published with video sequences]</i>
Atypical presentation in Rasmussen encephalitis: delayed late-onset periodic epileptic spasms
Taíssa P.F. Ferrari, Ana P.A. Hamad, Luís Otávio S.F. Caboclo, Ricardo S. Centeno, Ana Luiza Zaninotto, Monica Scattolin, Henrique Carrete Junior, Carmem L.P. Lancellotti, Elza Márcia T. Yacubian
periodic epileptic spasms with no hypsarrhythmia. The ictal EEG showed periodic, constant and stereotyped complexes. Serial brain imaging revealed progressive atrophy of the right hemisphere with increased T2 signal on MRI. She underwent a right hemispherotomy, and histological examination showed signs of inflammation and features of focal cortical dysplasia (FCD). She has been seizure-free for 16 months. This case is unique in the following aspects: the presence of typical Rasmussen encephalitis features of progressive unilateral brain involvement without seizures, a delay of almost three years prior to seizure onset; an atypical seizure type presentation with periodic epileptic spasms and the presence of FCD associated with inflammatory changes.
<i>[Published with video sequences]</i>
Bilaterally independent epileptic spasms in a case of Aicardi syndrome
Katsuhiro Kobayashi, Kiyoko Watanabe, Harumi Yoshinaga, Yoko Ohtsuka
of spasm concurred, they showed no mutual interactions based on either clinical or EEG aspects. This observation does not support the hypothesis that the brainstem always plays an initiating role in generating spasms.
<i>[Published with video sequences]</i>
Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall
Stephane Darteyre, Laure Mazzola, Philippe Convers, Marine Lebrun, Dorothée Ville
suspected spasms and an electroencephalogram with hypsarrhythmic-like features. She was initially treated with vigabatrin which resulted in worsening of myoclonic jerks. Fluorometric
<i>in situ</i> hybridization revealed a chromosomal deletion at region 15q11-13. We discuss the case and differential diagnosis with other conditions including West syndrome.
<i>[Published with video sequences]</i>
Localisation value of ictal arterial spin-labelled sequences in partial seizures
Manuel Toledo, Josep Munuera, Xavier Salas-Puig, Estevo Santamarina, Nuria Lacuey, Alex Rovira
We report a patient with post-traumatic epilepsy and cortical haemorrhage who had a complex partial seizure characterised mainly by ictal speech (verbalisation) during MRI acquisition. Ictal ASL showed focal hyperperfusion over the right temporal region which had resolved on follow-up MRI, two weeks later. Seizure semiology and interictal EEG suggested seizure origin in the non-dominant temporal lobe, which matched the increased ictal blood flow observed by ASL. The patient had language dominance in the left hemisphere, as observed by functional MRI. Our findings suggest that focal hyperperfusion, as observed by ASL, may have localising value in temporal epilepsies when performed in the ictal period.
Dravet syndrome with an exceptionally good seizure outcome in two adolescents
Katsuhiro Kobayashi, Iori Ohmori, Mamoru Ouchida, Yoko Ohtsuka
freedom for at least four years during adolescence. These patients had no episodes of convulsive status epilepticus with a duration of more than 30 minutes and their overall favourable seizure outcome may be related to the prevention of convulsive status epilepticus.
Epileptic seizure induced by fennel essential oil
Souad Skalli, Rachida Soulaymani Bencheikh
a typical generalised tonic-clonic seizure and remained unconscious for 45 minutes following ingestion of a number of cakes containing an unknown quantity of fennel essential oil. Involuntary diarrhoea accompanied her epileptic seizure. This reported case recalls the fact that fennel essential oil can induce seizures and that this oil should probably be avoided by patients with epilepsy. Labelling of products with fennel essential oil should refer to the risk of seizures, particularly for patients with epilepsy. An awareness programme should involve all stakeholders affected by this issue.
