Precipitating factors and therapeutic outcome in epilepsy with generalized tonic-clonic seizures

OBJECTIVES: The aim of the study was to evaluate the influence of precipitating factors and therapy on the outcome of epilepsy with generalized tonic-clonic seizures. PATIENTS AND METHODS: Retrospective analysis of data from 34 patients (mean age at seizure onset 19 years; mean duration of follow-up 9.2 years) suffering from epilepsy of either cryptogenic or remote symptomatic (n = 19), or idiopathic (n = 15) etiology. The total number of seizures in all patients was 146. RESULTS: Without treatment 97 seizures manifested during 90.5 years without treatment (1.07 seizures/year), during treatment with carbamazepine or valproate 49 seizures occurred within 224 years (0.2 seizures/year). The frequency of seizures was significantly lower during treatment. Precipitating factors were found in relation to 31% of seizures in patients with remote symptomatic or cryptogenic epilepsy, and for 51% of seizures in patients with idiopathic epilepsy. CONCLUSIONS: There was a low frequency of seizures in patients with generalized tonic-clonic seizures. Precipitating factors are common. Antiepileptic drug treatment is effective.     

Clinical factors of drug resistance in juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy is a comparatively benign form of idiopathic generalised epilepsy. Little is known about the prevalence of difficult to treat or drug resistant patients. Among 155 consecutive patients with newly diagnosed juvenile myoclonic epilepsy evaluated between 1981 and 1998 and followed up for at least 1 year (61 men, 94 women; aged 15-70 years, mean 33 (SD 10.3); onset of juvenile myoclonic epilepsy at the age of 14.5 (SD 3.7), range 6-26; follow up 1-52 years, mean 13.5 (SD 9.9)), there were 15 pseudoresistant patients (9.7%: lack of compliance (eight), insufficient treatment (three), abnormal lifestyle (four)) and 24 patients (15.5%) who had persisting seizures despite adequate therapy and lifestyle. Clinical features associated with drug resistance were (1) the presence of psychiatric problems (58.3% v 19%; chi(2) p<0.001) and (2) independently, the combination of seizure types (Fischer's exact 2 by 4, p=0.0026). Three types were present in 62.5% of resistant patients versus 23.3% in non-resistant patients (chi(2), p=0.0001). None of the resistant patients had myoclonic jerks as the only seizure type or a combination of absences and myoclonic jerks. Family history of epilepsy, age at onset of seizures, sex, presence of photoparoxysmal response, results of conventional neuroimagings (CT and MRI), and delayed diagnosis were not significantly associated with drug resistance. There is thus a significant subgroup of patients with juvenile myoclonic epilepsy who pose difficult therapeutic problems, and the prevalence of resistant cases may be increased in the experience of a referral epilepsy centre.     

Do carbamazepine and phenytoin aggravate juvenile myoclonic epilepsy?

BACKGROUND: Juvenile myoclonic epilepsy is a frequent form of idiopathic generalized epilepsy that is usually and easily controlled by valproate monotherapy. However, juvenile myoclonic epilepsy is often misdiagnosed, and some drugs, especially carbamazepine and phenytoin, may have an aggravating effect. OBJECTIVES: To determine the risk of aggravation of juvenile myoclonic epilepsy in patients treated with carbamazepine and phenytoin. METHODS: Among 170 consecutive patients with juvenile myoclonic epilepsy (104 female, 66 male) referred between 1981 and 1998, the authors retrospectively found 40 patients (23%) who had received carbamazepine or phenytoin (duration of epilepsy at referral, 1 to 34 years; mean +/- SD, 13.8 +/- 8.5 years; follow-up, 3 to 50 years; mean +/- SD, 16.4 +/- 11 years). RESULTS: Twenty-three patients (57.5%) experienced aggravation of seizures, whereas 6 (15%) apparently benefited from these drugs. There was no effect in the remaining 11 cases (27.5%). Carbamazepine was prescribed to 28 patients: 19 (68%) had aggravated symptoms, including myoclonic status in two; 4 (14%) were improved, one in association with valproate and one in association with valproate and phenobarbital. Phenytoin was prescribed in 16 cases: 6 (38%) had aggravation and 2 (12%) were improved, including one in association with phenobarbital. Vigabatrin was given in only one case, in association with carbamazepine, and provoked a mixed absence and myoclonic status. CONCLUSIONS: Among commonly prescribed anticonvulsants, carbamazepine appears to have the strongest aggravating potential in patients with juvenile myoclonic epilepsy, whereas the aggravating effect of phenytoin is less prominent. Aggravation was mostly in the form of increased myoclonic jerks.     

Crises épileptiques révélant des anomalies du métabolisme phosphocalcique

Hypocalcemia due to hypoparathyroidism produces a broad spectrum of clinical manifestations, but overt symptoms may be sparse. One unusual presentation is onset or aggravation of epilepsy in adolescence revealing hypoparathyroidism. This situation can lead to delayed diagnosis, with inefficacity of the antiepileptic drugs. We report five cases of adolescence-onset epilepsy with unsuccessful antiepileptic therapy, even with gradually increasing dose. Physical examination revealed signs of hypocalcemia, confirmed biologically. Full testing disclosed the origin of the seizures: hypoparathyroidism in three patients and pseudohypoparathyroidism in the other two. In four of five patients, computed tomography showed calcification of the basal ganglia, defining Fahr's syndrome. The patients were treated with oral calcium and active vitamin D (1-alphahydroxy vitamin D3). Seizure frequency progressively decreased and serum calcium levels returned to normal. These cases illustrate the importance of the physical examination and of routine serum calcium assay in patients with new-onset epileptic seizures in order to detect hypocalcemia secondary to hypoparathyroidism.     

Early prediction of refractory epilepsy in childhood

PurposeTo investigate early predictors (6 months after diagnosis) of refractory epilepsy.MethodsStudy design: prospective cohort study. Inclusion criteria: all consecutive children <14 years with two or more unprovoked seizures 24 h apart, who were seen at our hospital between 1994 and 2004. Exclusion criteria: patients previously examined in other centres. Definitions: refractory epilepsy: failure of >2 drugs plus >1 seizure/month for ≥18 months. Analysis: risk of developing refractory epilepsy was calculated using Kaplan–Meier survival curves. Univariable and multivariable analyses of potential predictors of developing refractory epilepsy were carried out using Cox proportional hazards model.Results343 patients were included. Mean age at diagnosis was 4.8 years (±3.8 SD). Mean follow-up period was 76.2 (±35.2 SD) months (range 24–139). Risk of developing refractory epilepsy was 8% at 6 years. Risk for idiopathic syndromes was 2%. For non-idiopathic syndromes the risk was 38% for patients with age at onset <1 year plus >1 seizure during the first 6 months after diagnosis, 9% for age at onset <1 year plus 0–1 seizures during the first 6 months, 22% for age at onset ≥1 year plus >1 seizures during the first 6 months and 3% for age at onset ≥1 year plus 0–1 seizures during the first 6 months.ConclusionRisk of developing refractory epilepsy is very low in idiopathic syndromes. For the rest of patients, a simple model comprising three variables allows more accurate prediction of risk of refractoriness.     

肌萎缩侧索硬化患者106例生存分析

目的 采取回顾性研究方法探讨肌萎缩侧索硬化(ALS)的预后相关因素.方法 收集1994年1月至2004年12月于北京大学第三医院就诊的ALS患者106例,记录其临床资料、肺活量和神经功能等级评分,每3个月到半年进行面访或电话随访,直至其死亡或气管切开.用Kaplan-Meier方法计算中位生存时间,用Log rank分析各单因素变量与生存时间的关系,用Cox风险比例模型分析多变量对生存时间的影响.结果 106例AIS患者平均发病年龄为(52.1±10.5)岁,确诊52例,拟诊37例,可能17例.患者的中位生存时间为35个月(95%CI 30～40个月).单因素分析发现起病部位、发病到诊断的时间和诊断时的用力肺活量为生存时间的影响因素,差异有统计学意义(Logrank 6.84、43.30、4.78,均P<0.05).进一步用Cox风险比例模型分析,发病到诊断的时间为最有力的影响因子(Wald值20.221,风险系数0.351,P<0.05),而性别、年龄、诊断级别、诊断时的神经功能评分情况与生存时间无明显相关.结论 发病到确诊的时间为生存时间最有力的影响因子,提示ALS患者诊断时的病情发展速度与生存时间高度相关,值得进一步研究.     

Outcome after prolonged convulsive seizures in 186 children: low morbidity, no mortality

Prolonged convulsive seizures are a common neurological emergency and a potential cause of neuronal damage and functional sequelae. We explored the role of seizure duration and various background factors for neurological sequelae in children with prolonged convulsive seizures. The population-base of this study was all children (age < 16 years) who had been admitted to the Tampere University Hospital, Finland between 1993 and 1999 with convulsive seizures lasting more than 5 minutes. Patients were followed up individually (mean length of follow-up 2 years 1 month, range 0 to 7 years 8 months). All available data on the prolonged seizure episodes and clinical follow-up were analyzed retrospectively by a detailed review of all medical charts and records. In 186 children (94 males, 92 females; mean age 4 years 5 months, SD 3 years 10 months, range 1 month to 15 years 4 months) there were 279 separate convulsive seizure episodes lasting over 5 minutes, yielding an annual incidence of 47.5 out of every 100000 episodes. Seizure aetiology was idiopathic in 26.2% of episodes, febrile in 41.9%, remote symptomatic in 28%, and acute symptomatic in 3.9% of episodes. Mean duration of all seizure episodes was 42.5 minutes (SD 46.1 minutes) and was significantly correlated with the aetiology: shortest in the febrile group (mean 35.4 minutes) and longest in the acute symptomatic group (mean 88.6 minutes; p < 0.001). There was no mortality related directly to these acute seizure episodes. The most common sequela was an onset of epilepsy in 40 children (22%). Permanent neurological sequelae were noted in only four patients (2.2%; mean seizure duration 16 minutes) and non-permanent sequelae in six patients (3.2%; mean seizure duration 38 minutes). Neurological sequelae of prolonged convulsive seizures in children are rare and are related to aetiological factors rather than the duration of a single seizure. The role of acute seizures in the evolution of epilepsy in children remains obscure.     

Parkinsonism,basal ganglia calcification and epilepsy as late complications of postoperative hypoparathyroidism

Summary A patient with post-thyroidectomy hypoparathyroidism, basal ganglia calcification, parkinsonism and seizures is reported. The parkinsonism was resistant to levodopa therapy but was not significantly improved by the correction of hypoparathyroidism. Previously reported cases are discussed, as well as the relationship between hypoparathyroidism, calcification of basal ganglia, parkinsonism and epilepsy.     

Transcranial brain sonography findings in discriminating between parkinsonism and idiopathic Parkinson disease

BACKGROUND: In several pilot studies, transcranial brain sonography findings of substantia nigra and lenticular nucleus discriminated between idiopathic Parkinson disease (PD) and atypical parkinsonian disorders. OBJECTIVE: To study the use of transcranial brain sonography in excluding the diagnosis of idiopathic PD in patients with sporadic parkinsonism. DESIGN AND SETTING: All patients with parkinsonism admitted to our movement disorder clinic from January 1, 2003, through December 31, 2005, who fulfilled clinical diagnostic criteria for definite PD, probable parkinsonian variant of multiple-system atrophy (MSA-P), or probable progressive supranuclear palsy (PSP) were prospectively studied with transcranial brain sonography by an investigator blinded to clinical diagnoses. Patients Eligible patients included 138 with sporadic idiopathic PD (82 men and 56 women; mean +/- SD age, 67.1 +/- 9.8 years; mean +/- SD disease duration, 7.5 +/- 6.3 years; mean +/- SD motor score on the Unified Parkinson Disease Rating Scale, 32.6 +/- 18.1), 21 with MSA-P (10 men and 11 women; mean +/- SD age, 65.4 +/- 9.5 years; mean +/- SD duration of disease, 3.1 +/- 2.0 years; mean +/- SD motor score, 33.5 +/- 16.1), and 22 with PSP (13 men and 9 women; mean +/- SD age, 71.2 +/- 5.5 years; mean +/- SD duration of disease, 3.4 +/- 2.4 years; mean +/- SD motor score, 46.2 +/- 18.9). In 7 patients, transcranial brain sonography was not possible owing to insufficient temporal acoustic bone windows. MAIN OUTCOME MEASURES: Sensitivity, specificity, and predictive value of transcranial brain sonography in indicating an atypical parkinsonian syndrome rather than idiopathic PD in patients with sporadic parkinsonism. RESULTS: Normal echogenic substantia nigra indicated MSA-P rather than PD (sensitivity, 90%; specificity, 98%; positive predictive value, 86%), whereas third-ventricle dilatation of more than 10 mm in combination with lenticular nucleus hyperechogenicity indicated PSP rather than PD (sensitivity, 84%; specificity, 98%; positive predictive value, 89%). Normal echogenic substantia nigra combined with lenticular nucleus hyperechogenicity indicated MSA-P or PSP (sensitivity, 59%; specificity, 100%; positive predictive value, 100%). In parkinsonism with age at onset younger than 60 years, normal echogenic substantia nigra alone indicated MSA-P or PSP (sensitivity, 75%; specificity, 100%; positive predictive value, 100%). CONCLUSIONS: Distinct transcranial brain sonography findings can exclude the diagnosis of PD in patients with sporadic parkinsonism. Sonographic discrimination of atypical parkinsonian syndromes from PD is clearer in patients with onset of parkinsonism at younger than 60 years.     

不同性别患者脑静脉窦血栓形成的临床特点

目的分析不同性别患者脑静脉窦血栓形成(CVST)的临床特点。方法回顾性分析82例CVST患者的临床资料。结果 82例CVST患者中,男性52例、女性30例。病因不明:男性为42.3%,女性为20.0%(P0.05);有5例女性(16.7%)患者与产褥期或服用避孕药相关。性发作:男性为40.4%,女性为13.3%(P0.05)。不论性别,有实质病灶的患者中死亡或遗留神经功能缺损的比例为31.0%,无实质病灶的患者预后不良的比例为10.0%(P0.05)。结论与女性相比,CVST男性患者病因不明的比例较高,性发作的风险高;有脑实质病变的患者预后较差。     

Calcinose striatopallidodentelée,hypoparathyroïdie et atteinte neurologique : étude de série

IntroductionThe respective roles of hypocalcemia and intracerebral calcifications in the occurrence of various neurological manifestations in hypoparathyroidism is not entirely clear. Nevertheless, therapeutic and prognostic implications are important.ObjectivesWe analyze the neurological clinical aspects observed in hypoparathyroidism and correlate them to the biological calcium abnormality and radiological CT scan findings. We also compare these results with data reported in the idiopathic form of striatopallidodentate calcinosis.PatientsThe neurological clinical, CT scan findings and outcome have been retrospectively studied in patients recruited during 13 years (2000–2012) for neurological features associated with hypoparathyroidism or pseudohypoparathyroidism.ResultsTwelve patients with primary hypoparathyroidism (n = 5), secondary to thyroidectomy (n = 4) and pseudohypoparathyroidism (n = 3) were studied. The sex-ratio was 1 and mean age was 39 years. All patients had a tetany, 60% had epilepsy, associated in one patient with “benign” intracranial hypertension; 50% had behavioral changes. Response to calcium therapy was excellent for all these events. Moderate cognitive deficit was noted in three patients (25%), parkinsonism in two patients and hyperkinetic movement disorders in one other. These events were not responsive to calcium therapy and were more common in cases of extensive brain calcifications and in patients who had pseudohypoparathroidism.CommentsThis study suggests that, in patients with hypoparathyroidism, epilepsy and psychiatric disorders are induced by hypocalcemia and reversible after its correction. Cognitive and extrapyramidal impairment seem to be related to the progressive extension of intracerebral calcification, particularly in patients with a late diagnosis. In patients with pseudohypoparathyroidism, this finding is different because of the contribution of other factors, specific to this disease.     

Seizures as the presenting symptom of brain tumours in children.

Seizures were the presenting clinical symptom in 10 (12%) of 81 consecutive children with a primary brain tumour treated in a tertiary paediatric oncology unit over 5 years. Nine patients experienced partial seizures, and in seven a waking electroencephalogram showed focal or lateralising abnormalities. Astrocytoma was the most common tumour histology. The delay in tumour diagnosis from the onset of seizures ranged from 2 weeks to 2 years with a mean of 6 months. Complete resection of the tumour was the only treatment in three patients and four underwent resection followed by radiotherapy and/or chemotherapy. Two patients died. Three patients became seizure free receiving no antiepileptic medication and the remaining five showed a 50-80% reduction in seizures between 2 and almost 5 years following treatment.     

Bilateral striopallidodentate calcification (Fahr's syndrome) and multiple system atrophy in a patient with longstanding hypoparathyroidism

Recently, a family with idiopathic brain calcification was reported, in which one family member was diagnosed with multiple system atrophy (MSA) at autopsy. We report here a case showing similar neuropathological features in a patient with longstanding hypoparathyroidism. Our female patient had a history of hypoparathyroidism with hypocalcaemia and tetany since the age of 9 years. In her 50s she developed dementia and parkinsonism. She died of myocardial infarction aged 65 years. Neuropathology showed severe brain calcifications of the Fahr type in the basal ganglia, thalami, cerebral and cerebellar white matter and dentate nuclei. Additionally, there was prominent alpha‐synucleinopathy of the multiple system atrophy type (MSA). The patient has a healthy identical twin and there is no family history of hypoparathyroidism or neurological disease. Data on alpha‐synuclein accumulation in various cases of Fahr's syndrome are needed to establish the correlation between alpha‐synucleinopathy and bilateral striopallidodentate calcification.     

Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution

The objective of the study was to explore clinical, electroencephalography (EEG), neuropsychological features and prognosis of myoclonic-astatic epilepsy (MAE). Of 327 children aged between 1 and 9 years with a diagnosis of generalized epilepsy followed between 2000 and 2008, 18 (5.5%) had MAE. Male significantly predominated (88.9%). Age at onset ranged from 2.3 to 4.9 years (mean 3.6 years). Median follow-up period was 6.3 years. In addition to myoclonic-astatic seizures patients had myoclonic seizures (66.7%), drop attacks (72.2%), head drops (77.8%) absences (88.9%), tonic-clonic generalized seizure (77.8%), tonic seizures (38.9%), non-convulsive status epilepticus (16.7%). Seven patients (38.9%) had an epileptic encephalopathy. At onset, interictal epileptiform and slow abnormalities were recorded, respectively, in 100% and 77.8% of patients. EEG abnormalities disappeared in all patients within 4 years since the onset. At long-term follow-up, two patients developed focal abnormalities typical of rolandic epilepsy and two patients photosensitivity. On neuropsychological testing 66.7% of patients had a normal IQ (mean 81.2±17.0, range 47-105, median 84.5) after a mean period of 4.4 years since the last seizure. Sixteen out of 18 patients remitted within 3.5 years since the onset and in two patients tonic seizures persisted. MAE is generalized childhood epilepsy: although cognitive functions might deteriorate, outcome is good regarding seizures.     

Long-Term Outcome of Pattern-Sensitive Epilepsy

Summary:  Purpose: To evaluate the long-term outcome of patients with pattern-sensitive epilepsy.
Methods: We prospectively studied 35 patients (21 females and 14 males) with pattern-sensitive epilepsy (follow up ≥5 years; mean 13.9; range 6.4 – 27.6). All cases had regular clinical examinations and serial electroencephalographic (EEG) recordings. Photosensitivity and pattern sensitivity were ascertained neurophysiologically in all cases. Outcome was evaluated according to the following variables: duration of photosensitivity, rate of remission (seizure-free period ≥ 2 years), withdrawal of therapy, and recurrence after drug discontinuation.
Results: The epilepsy was generalized in 18 cases (17 idiopathic, one symptomatic) and partial in 17 (13 idiopathic, four symptomatic). Sixteen patients (46%) had a family history of seizures. The mean age at the last examination was 21.4 years (range 11.2–35.5 years). Five patients (14%) had only reflex seizures. The most common type of spontaneous seizures was generalized (60%), whereas reflex seizures were more frequently partial (74%). Mean epilepsy duration was 8.7 ± 6.3 years. Patients with only reflex seizures were instructed to avoid precipitating stimuli and were not treated with antiepileptic drugs. Treatment was gradually withdrawn in 10 out of 30 treated patients, with relapse in only two cases. At the end of follow up, 28 patients (80%) were seizure-free.
Conclusion: The long-term outcome of patients with pattern-sensitive epilepsy indicates a good prognosis with a favorable course for both spontaneous and reflex seizures.     

The phenotypic spectrum of CADASIL: Clinical findings in 102 cases

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an increasingly recognized autosomal dominant disorder that leads to cerebrovascular manifestations in early adulthood. This study delineates the phenotypic spectrum and the natural history of the disease in 102 affected individuals from 29 families with biopsy-proven CADASIL. Recurrent ischemic episodes (transient ischemic attack [TIA] or stroke) were the most frequent presentation found in 71% of the cases (mean age at onset, 46.1 years; range, 30–66 years; SD, 9.0 years). Forty-eight percent of the cases had developed cognitive deficits. Dementia (28%) was frequently accompanied by gait disturvance (90%), urinary incontinence (86%), and pseudobulbar palsy (52%). Thirty-nine patients (38%) had a history of migraine (mean age at oneset, 26.0 years; SD, 8.2 years), which was classified as migraine with aura in 87% of the cases. Psychiatric disturbances were present in 30% of the cases, with adjustment disorder (24%) being the most frequent diagnosis. Ten patients (10%) had a history of epileptic seizures. To delineate the functional consequences of ischemic deficits, we studied the extent of disability in different age groups. The full spectrum of disability was seen in all groups older than age 45. Fifty-five percent of the patients older than age 60 were unable to walk without assistance. However, 14% in this age group exhibited no disability at all. Kaplan-Meier analysis disclosed median survival times of 64 years (males) and 69 years (females). An investigation of the 18 multiplex families revealed marked intrafamilial variations.     

多巴反应性肌张力障碍临床分析

目的回顾性分析多巴反应性肌张力障碍患者的临床特点和治疗原则。方法选择2005年3月-2010年7月门诊或住院治疗且诊断明确的多巴反应性肌张力障碍患者,面对面采集临床资料并门诊或电话随访,对其性别、年龄、发病年龄、家族史、首发症状、就诊症状、诊断延误时间及治疗过程进行分析。结果共21例患者入组,男4例、女17例,平均发病年龄(7.19±3.40)岁,平均诊断延误时间(13.76±11.38)年。均以肢体肌张力障碍为首发症状,20例(95.24%)呈现晨轻暮重现象,6例(28.57%)伴帕金森样症状,2例(9.52%)伴痉挛性截瘫;经小剂量左旋多巴/多巴丝肼治疗后症状显著缓解。随访l 8例患者,仅1例治疗后仍遗留肢体残疾;3例失访。随访期间左旋多巴/多巴丝肼平均维持剂量(175.35±113.51)mg/d,3例患者辅助应用盐酸苯海索(4～6 mg/d)治疗。结论多巴反应性肌张力障碍患者多于儿童期以肢体肌张力障碍发病,小剂量左旋多巴/多巴丝肼治疗效果显著。因此,对于儿童肌张力障碍或青年帕金森样症状患者应行小剂量左旋多巴/多巴丝肼诊断性治疗,以降低多巴反应性肌张力障碍的误诊率。     

Intracranial bilateral symmetrical calcification on CT-scanning. A case report and a review of the literature

The case of a 57-year-old woman with idiopathic hypoparathyroidism is presented. A CT-scan showed extensive bilateral symmetrical calcification in the region of the basal ganglia, nuclei of the cerebellum and the cerebral and cerebellar white matter. A review of the literature showed that bilateral symmetrical calcification detected by CT is usually small in extent and is most often confined to the globus pallidus. It is most commonly found in patients older than 50 years, who only rarely have symptoms associated with it. The finding is, though, non-specific and may occur in a variety of pathological conditions both with and without an aetiological relationship. Further study of the cerebral parathormone responsive adenylate cyclase enzyme proves hopeful to elucidate the aetiology of idiopathic bilateral symmetrical calcification.     

Epilepsies and time to diagnosis. Descriptive results of the CAROLE survey

CAROLE is a prospective survey of children and adults who experienced epileptic unprovoked seizure(s) diagnosed for the first time between May 1 1995 and June 30 1996 by 243 French neurologists and neuropediatricians. Case records forms at entry allowed to compare patients who had a single seizure or several seizures prior to diagnosis. In patients with recurrent seizures, the time elapsed between the onset of attacks and the diagnosis (diagnostic delay) was looked for. Half of the 1942 included individuals already experienced more than one seizure when diagnosed. Due to natural history of epilepsies, 13 p.100 of the patients did not come to medical attention after a single seizure. Time to diagnosis ranged from 0 day to 52 years. While the overall median delay was 6 days, it ranged from 0 day to 7-8 months according to the type of seizure and the epilepsy syndrome. Two thirds of generalized convulsive seizures were immediately diagnosed versus one third of partial seizures. One half of infantile spasms were identified within 2 weeks versus 6 weeks in complex partial seizures, 4 months in absence seizures, 6 months in simple partial seizures, and 7 months in myoclonic seizures. Three quarters of idiopathic partial epilepsies were diagnosed within 4 weeks versus 3 months in symptomatic generalized epilepsies, 8 months in symptomatic partial epilepsies, 15 months in idiopathic generalized epilepsies, 30 months in cryptogenic partial epilepsies, and 33 months in undetermined epilepsies. So, the time elapsed between a first epileptic event and its diagnosis is epilepsy-dependent: seizure type and cause. Other reasons of diagnostic delay do exist: doctor and patient. They will be addressed in another study.     

Juvenile Myoclonic Epilepsy: Factors of Error Involved in the Diagnosis and Treatment

Juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, has a distinct clinical and electroencephalographic profile. Often JME is not recognized, with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis even in an epilepsy clinic. Of 70 JME patients, 66 (91.4%) were not diagnosed on referral and 22 (33%) were not initially recognized in the epilepsy clinic. The correct diagnosis was established after a mean of 8.3 +/- 5.5 years from disease onset and an interval of 17.7 +/- 10.4 months from first evaluation in the epilepsy clinic. Myoclonic jerks, the hallmark of the disease, were not usually reported by patients. Similarly, relevant questioning may not be included in the history. Absence seizures antedating jerks by many years, myoclonic jerks reported as unilateral, generalized tonic-clonic seizures occurring during sleep and focal EEG abnormalities are other factors contributing to not recognizing JME. Our study reemphasizes the need to have not only a correct seizure diagnosis but also a correct epilepsy-disease diagnosis.