Juvenile myoclonic epilepsy in a patient with history of infantile hemiplegia

Introduction

The 1989 International Classification of Epilepsies and Related Syndromes considers normal cognitive, neurologic and anatomic findings to be prerequisites for the diagnosis of idiopathic forms of epilepsy.

Case report

We report the case of a woman with juvenile myoclonic epilepsy (JME) and a history of infantile hemiplegia. When she was a teenager, she had two generalized tonic-clonic seizures, later followed by a few seizures with loss of consciousness misinterpreted as complex partial seizures. Physical examination revealed right hemiparesis. A CT scan documented a left rolandic infarction and a wrong diagnosis of focal epilepsy was made. At 20 years, a nap video-EEG was performed. A burst of generalized spike-waves was recorded on awakening. Photic stimulation and watching a Japanese cartoon on television disclosed a marked photoparoxysmal response associated with myoclonic jerks. Myoclonic jerks were in fact known by the patients but unreported. She had jerks on roads with trees due to shade/sunlight alternance. A diagnosis of JME was made.

Conclusion

This observation illustrates that patients’ situation with a presumed genetic predisposition for JME are at equal risk for brain lesions as others subjects. Misdiagnosis of focal epilepsy may have dramatic consequences in patient with JME, as some patients will be aggravated by inadequate antiepileptic drugs.     

Apport d’une démarche électroclinique dans le diagnostic de l’épilepsie chez une population de sujets âgés confus

Background

Delusion symptoms often occur in old people; epilepsy is one of the main reasons behind these acute episodes. Current guidelines and recommendations from the Academy of Medicine have proposed a double clinical and electroencephalographic approach. Recently, a working group of French experts has issued an electro-clinical scale. The aim of our study was to compare the usual approach with the new one based on the electro-clinical score.

Method

All EEG requests performed since December 2008 in Bretonneau Hospital for elderly people aged over 75 years for delusion syndromes were retained for this study.

Results

One hundred and fifteen old patients from a geriatric-hospital (age 83.5 ± 6.06 years) were included in this protocol. The classical diagnostic process yielded the diagnosis of epilepsy for 50 subjects. The electro-clinical scale confirmed the diagnosis of epilepsy in 30 patients and ruled it out in 29 patients.

Conclusion

This study underscores the importance of evidence-based medicine for the diagnosis of epilepsy in old people and points out the underuse of the new technical tool, EEG-monitoring, for the management of these patients.     

Idiopathic generalized epilepsies misdiagnosed as partial epilepsies

Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clinical constellation are essential for a correct seizure classification and diagnosis of IGE in adults.     

La CIM et le DSM ou l’impossible validation : pourquoi le ver est dans le fruit

Introduction

The international classifications in psychiatry, i.e. ICD-10 and DSM4R, enabled a fast increase of factual information on the disorders they have defined. The improvement of reliability accounts for most of their success. But this did not come with an increase in validity. We will argue that these classifications are not “validatable” by questioning some of the postulates that guided their elaboration.

Method

We will state the epistemological principles underlying scientific and medical classifications and compare them with those at work in psychiatric classifications. Examples, mainly from the field of psychoses, will be given to illustrate the core differences.

Result

Validity is a notion that can only apply to scientific classifications. Scientific classifications aim at providing a model for an external reality, i.e. a natural phenomenon. The validatable part of a classification is the model on which it relies, not the definition that ensues from the model. Medicine has adopted the scientific way of classifying. Accordingly, in nosology, the term “disease” applies to natural morbid entities defined by a model, relevant to their aetiology or pathophysiology. This aetio-physiopathological model alone can be validated. ICD and DSM utility are, by construction, oriented towards practical and/or technical objectives. Hence, their framework is not adapted to the pursuit of scientific goals. The most challenging is the atheoretical orientation, which deprives the classifications from their only validatable part, i.e. the model underlying symptoms grouping. It is therefore worthless to attempt to accredit the invalidable, i.e. the symptomatic definitions of the disorders. Nevertheless this has been attempted by the “external validators” approach. The above-mentioned epistemological error is embedded in the external validator approach, which has inevitably failed to hold its promises.

Conclusion

It is urgent to clarify the utility of ICD and DSM in psychiatry, i.e. epidemiology and clinical practice. To rely exclusively on them for aetio-physiopathological scientific investigations can only hinder any progress towards the discovery of the cores of psychiatric diseases.     

Caractéristiques des enfants ayant une épilepsie suivis au CHU de Marrakech

Introduction

Epilepsy is one of the most frequent neurological diseases in the pediatric population. Many epidemiological studies have been published, but with rather discordant results, because of methodological differences. In our context, epilepsy constitutes a public health problem. National epidemiological data are scarce.

Objectives

To describe the characteristics of children with epilepsy, to analyze the risk factors and to assess the impact of the disease on schooling.

Methods

This was a retrospective study concerning 592 children attending the Mohammed VI university hospital center pediatric unit A outpatient clinic for epilepsy from August 2003 to December 2007.

Results

Epileptic syndromes were classified according to the criteria of the International League Against Epilepsy of 1989. Prevalence of epilepsy was 8.5%. Average age was 6 years 7 months. Age of seizure onset ranged from 2 months to 14 years. Male gender predominated. Antecedents were dominated by peri- and neonatal complications. Parental consanguinity and a family history of epilepsy were found in 19.2 and 11.6% of cases, respectively. Schooling was perturbed in more than one-third of the school-age children. Generalized seizures were most common (70.5%). Association with cerebral palsy was present in 18.6% of cases, with mental retardation in 4.7%. The epilepsy was idiopathic for 41% of the children, symptomatic for 39% and cryptogenic for 20%. Generalized epileptic syndromes were the most frequent, epilepsy absence (12%), Lennox-Gastaut syndrome (6%), West syndrome (5.5%) and myoclonic epilepsy (4%). The most common partial epileptic idiopathic syndrome was benign childhood epilepsy with centrotemporal spikes. Single-drug therapy was the rule for first intention treatment (96.8%). Sodium valproate was the antiepileptic drug most widely used (82%). Treatment led to resolution of the seizures in 76% of the children.

Conclusion

Preventive measures should be reinforced in our context with a considerable proportion of children presenting neonatal risk factors. Efforts should be made to improve schooling for children with epilepsy.     

Seizure prediction: from myth to reality

Introduction

Clinical, metabolic and electrophysiologic studies suggest the existence of a preictal state, a transition between the interictal state and seizure.

State of the art

Analysis of the intracranial EEG by mathematical methods shows changes of the brain dynamics several minutes before the occurrence of partial seizures. These modifications can be widespread and not restricted to the epileptogenic focus, which would explain why they can also be detected from scalp EEG. Several scenarios could underlie the preictal state: a progressive recruitment of neurons or a facilitating state with a high probability of seizure occurrence. Because of the high rate of false predictions, no satisfactory method for seizure prediction has been currently proposed.

Perspectives

A European multicenter study (Evolving platform for improving living expectation of patients suffering from IctAl events [EPILEPSIAE]) is currently evaluating a combination of 44 methods applied for EEG and ECG analysis on long-term recordings obtained from a large multicenter database (www.epilepsiae.eu).

Conclusion

Combining analyses of multi-level signals including intracranial EEG and microelectrodes, scalp EEG and in vitro electrophysiological studies of post-operative tissues should help clarify brain dynamics during the pre-ictal state.     

Spécificités des crises d’épilepsie chez le sujet âgé : proposition d’un score électro-radioclinique d’orientation

Diagnosis of epileptic seizure may be difficult in older patients because seizure manifestations are often unusual: confusion, paresis… and because there are multiple differential diagnoses (syncope, transient ischemic attack, transient global amnesia…). To promote and facilitate the diagnosis of seizures in the elderly, neurologists and gerontologists must work together and focus their strategy on two points: firstly, the knowledge of the specific presentation of seizures in elderly patients, and secondly, the adoption of a reasoning based on seizures and not epileptic syndromes. A multidisciplinary group worked on epilepsy of the elderly to elaborate an electro-clinical score which aims to help establish the diagnosis of epilepsy in elderly patients in different clinical settings. This electro-clinical score is based on a systematic review of scientific literature and the recommendations are explicitly linked to supporting evidence. Further, clinical validation of the electro-clinical score is required.     

Analyse clinique au cours d’une marche simple et avec une double tâche chez une population de sujets âgés ambulatoires consultant en gériatrie

Introduction

Gait and balance often change with age. Few studies are available on gait analysis in the elderly. In our work, we have focused on slow walking and variation in pace. Since first introduced by Lundlin, the dual-task paradigm has been largely used to test for the risk of falls and to better understand the link between mild cognitive decline and variation in gait. To our knowledge, very few clinical data are available on the gait changes observed in the elderly in the dual-task situation. In this study, we compared changes in gait and balance between the simple task and the dual-task situation in a 10-m walk test conducted in community-dwelling old people.

Methods

Eighty-nine subjects attending a geriatric outpatient clinic (age 80.76 ± 2.82 years) were included in our protocol. Gait, balance and posture were systematically evaluated during a simple and dual-task 10-m walk using a specific 11-item clinical scale. Gait speed was noted.

Results

Few differences were found in the dual-task walk, only reduced speed, more stops during the walk and less compliance with instructions. These results were correlated with the Mini Mental Status (MMS) score. Systematic clinical analysis failed to identify any links with age, the MMS, the UPDRS, the Tinetti scale or gait speed except for the variables freezing, increased sustention polygon and ataxia.

Discussion

This kind of study appears to offer an attractive analytical approach but would require a more pertinent choice of variables for cognitive evaluation and a more exhaustive set of MRI criteria. Nonetheless, clinical gait analysis could improve our understanding of the consequences of mild cognitive impairment and aging.     

Polynévrite, crise convulsive, syndrome cérébelleux, complication d’un traitement par métronidazole. Apport de l’IRM

Introduction

Neurological complications of metronidazole are rare, predominantly peripheral neuropathies, especially in patients on a long-term high-dose regimen. Cerebellar syndrome or seizures are less frequently reported. The concomitant occurrence of the three complications is exceptional.

Case report

We report herein a case with these three complications as side effects of metronidazole. For the cerebellar syndrome, the T2-weighted brain MRI showed a rounded and well-delimited zone of high signal intensity in the cerebellar dentate nuclei, extending up to the protuberance and the subthalamic nucleus, bilaterally and symmetrically.

Conclusion

Neurological complications are possible when a treatment with metronidazole is prescribed for a long duration or at high dose. In our patient, the clinical abnormalities and MRI signs regressed a few months after treatment withdrawal.     

Idiopathic generalized epilepsy: Phenotypic and electroencephalographic observations in a large cohort from South India

Purpose:

We studied the phenotype and electroencephalographic (EEG) features, and therapeutic aspects of idiopathic generalized epilepsies (IGEs) in South Indian population.

Patients and Methods:

This prospective cross-sectional hospital-based study was carried out on non-consecutive 287 patients (age 22.2 ± 7.7 years; M:F = 139:148) with IGE syndrome. Their clinical and EEG observations were analyzed.

Results:

Majority of the patients had onset of seizures <20 years of age (n = 178; 62%). Thirty one patients (10.8%) had family history of epilepsy. Nearly half of them (49.9%) had <5 years of duration of seizures. The type of IGEs included Juvenile myoclonic epilepsy (JME): 115 (40.1%); IGE with generalized tonic-clonic seizures (GTCS) only: 102 (39.02%); childhood absence epilepsy (CAE): 35 (12.2%); GTCS on awakening: 15 (5.2%); Juvenile absence epilepsy (JAE): 11 (3.8%); and unclassified seizures: 9 (3.1%). The triggering factors noted in 45% were sleep deprivation (20%), non-compliance and stress in 5% each. The EEG (n = 280) showed epileptiform discharges in about 50% of patients. Epileptiform discharges during activation was observed in 40/249 patients (16.1%): Hyperventilation in 32 (12.8%) and photic stimulation in 19 (7.6%). The seizures were well controlled with anti-epileptic drugs (AEDs) in 232 (80.8%) patients and among them, 225 (78.4%) patients were on monotherapy. Valproate (n = 131) was the most frequently prescribed as monotherapy.

Conclusions:

This is one of the largest cohort of patients with IGE. This study reiterates the importance of segregating IGE syndrome and such analysis will aid to the current understanding and management.     

Insulinoma presenting as pseudo-drug-resistant focal epilepsy

Introduction

We describe a case of insulinoma presenting as a refractory frontal lobe epilepsy in a 44-year-old man with a history of severe head trauma.

Case report

Despite escalating treatment, his seizure frequency worsened during the previous year. He also developed psychomotor slowing and sweating occurring early in the morning. He gained weight. Insulinoma was diagnosed based on the presence of episodes of hypoglycemia, abnormal insulin/blood glucose ratio and a tumor in the pancreas (echo-ultrasound). After partial pancreatectomy, the patient became seizure free and anti-epileptic drugs were progressively stopped, with a follow-up of five years.

Conclusion

Insulinoma should be considered in patients with no reason for having drug-resistant epilepsy, especially when seizures occur early in the morning or when episodes of neuropsychiatric symptoms with sweating are present.     

Idiopathisch generalisierte Epilepsien

Background

Although the sociomedical importance of epilepsies has been extensively investigated, data regarding social long-term outcome and quality of life of people with idiopathic generalized epilepsies (IGE) are lacking.

Objectives

Predictors for the psychosocial outcome and the quality of life in patients with IGE are identified and discussed.

Materials and methods

The findings of existing studies on the social outcome in patients with various IGE syndromes are analyzed and discussed.

Results

Patients with absence epilepsy or juvenile myoclonic epilepsy (JME) are reported to have an unfavorable psychosocial outcome. While in JME a lower seizure frequency or remission of the epilepsy correlates with a favorable psychosocial outcome and a higher quality of life, remission of epilepsy is not predictive for a better social outcome among patients with absence epilepsy. Compared to other IGE syndromes, IGE with generalized, tonic–clonic seizures on awakening appears have a more favorable psychosocial outcome.

Conclusion

Several predictors for the psychosocial outcome and the quality of life have been identified and may potentially increase the clinicians’ ability and confidence to recommend different treatment options to patients with IGE.

     

A study of idiopathic generalised epilepsy in an Irish population.

Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.     

Comparaison de l’échographie et de l’électroneurographie pour le diagnostic du syndrome du canal carpien en pratique courante

Introduction

Many studies had been performed in the last years to prove the usefulness of ultrasonographic measurements of the median nerve in the diagnosis of carpal tunnel syndrome (CTS). We wanted to determine its reliability and to compare this technology with electromyography (EMG) in ordinary diagnostic conditions.

Methods

The study involved 90 wrists with suspected CTS, 35 controlateral wrists and 52 control wrists. The diagnosis of CTS was confirmed in 81 cases by the hand symptom diagram and the Tinnel and Phalen sign. The EMG examination evaluated medianulnar sensory latency difference to the ring finger and wrist-to-palm sensory conduction velocity. For the ultrasound diagnosis, the cross sectional area of the median nerve at the level of the pisiform bone, was considered. The sensitivity and specificity of the two techniques was calculated.

Results

Sensitive electroneurographic parameters showed a sensibility and specificity respectively of 79 and 80%. The cut-off point for ultrasound sensibility and specificity using ROC analysis was 11 mm² for mean cross-sectional area. Sensitivity and specificity found in this way were 72% and 56%. Reliability was good with intra- and inter-reader intraclass correlation coefficients of 0.99, and interobserver coefficient of 0.88. Sonography found seven CTS among the 17 clinical CTS with normal electrophysiological findings. A statistically correlation was found between the cross-sectional section and the sensitive electrophysiologic parameters (r = 0.43, p < 0.001).

Conclusions

In our study, ultrasonographic diagnostic value are not as good as electrophysiological value, like found in recent literature, probably because of the composition of our group of patients which is including many causes of acroparesthesias. This can mean that in clinical practice, sonography is a complementary tool instead, for example in cases of equivocal EMG.     

Évolution de la prescription du régime cétogène en France chez l’enfant entre 2001 et 2008

Introduction

The ketogenic diet is an adequate treatment for drug-resistant epilepsy and certain inborn metabolic disorders. The efficacy of the ketogenic diet for the treatment of epilepsy is now well established. In France, and more widely in Europe, there is currently no consensus concerning appropriate initiation of the ketogenic diet and subsequent patient management.

Methods

Using the same questionnaire in 2005 and 2008, we retrospectively recorded the practices of child neurology departments of the French university hospitals during three study periods (2001-2002, 2002-2003 and 2005-2008). The aim was to evaluate the number of ketogenic diets started and how the ketogenic diet was initiated.

Results

The ketogenic diet was widely used by pediatric neurologists. The number of patients on a ketogenic diet increased over time. Diet initiation protocols also changed over time, being modified adequately with advances in knowledge of the ketogenic diet.

Conclusion

The French pediatric neurologists appear to have a good understanding of the ketogenic diet.     

Idiopathic generalized epilepsies with typical absences

Idiopathic generalized epilepsy (IGE) comprises several subsyndromes. These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign myoclonic epilepsy in infancy, childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, epilepsy with generalised tonic-clonic seizures on awakening. In addition, there are less well-recognized syndromes, such as eyelid myoclonia with absences. The pathophysiology of the IGE syndromes is not fully understood; it is evident that typical absences are the result of abnormal oscillations between the thalamus and cerebral cortex. Genetic studies are in progress to elucidate the biochemical defects underlying the conditions. The clinical and electroencephalographic features of the individual subsyndromes are distinct, but some patients may be difficult to classify into a particular subgroup. A correct syndromic diagnosis is important, as treatment strategies differ for patients with the different forms of IGE, and it is necessary for genetic research. Received: 4 February 1997     

Évaluation d’un programme de psychoéducation individuel chez des patients hospitalisés pour un trouble bipolaire

Objective

To assess the effectiveness of an individual program of psychoeducation in inpatients hospitalized for the first time with bipolar disorder, by comparing the acquired knowledge of patients who have received the program and that of patients who did not.

Methods

Patients who followed psychoeducation program were hospitalized in a bipolar disorder unit and control patients were hospitalized in other units of the same psychiatric department. At the end of hospitalization, personal questionnaires assessed knowledge with respect to bipolar disorder and its treatment; allowing us to calculate a “knowledge score”.

Results

The psychoeducation group had a better knowledge of bipolar disorder and of its treatment than that of the control group [39.3 (ET 3) versus 29.8 (ET 6,8); p < 0.0001], independently of other demographic and clinical characteristics.

Discussion

Structured and formalized psychoeducation appeared useful in inpatients in order to familiarize them with their disorder and their treatment.     

Juvenile Myoclonic Epilepsy: Characteristics of a Primary Generalized Epilepsy

Summary: Juvenile myoclonic epilepsy (JME) is a primary generalized epilepsy that affects approximately 7% of adolescent and adult epilepsy patients. JME is characterized by myoclonic seizures alone or combined with generalized tonic-clonic seizures or absence seizures. Seizures are precipitated by sudden awakening, sleep deprivation, photic stimulation, and alcohol consumption. The ictal electroencephalogram (EEG) shows a typical 4- to 6-Hz polyspike and wave pattern; the interictal EEG may be normal. Valproate controls seizures in approximately 80% of JME patients and is recommended for successful management of this disorder.