Vertebral arch nonfusion and juvenile myoclonic epilepsy

Detection of salmonellae was performed on egg shells and egg contents of duck eggs. Five hundred and sixty-four tested samples were came from 1,128 eggs, 2 eggs in each sample. Eggs were collected from retail markets in Bangkok, Chon Buri, Chachoengsao, Lop Buri, Ang Thong and Nakhon Ratchasima provinces during January through June 1992. The percentage of salmonellae contamination on the egg shells only, egg contents only and both shells and contents were 12.4%, 11% and 0.2%, respectively. Twenty three serotypes were identified from the 133 salmonellae isolates. The common serotypes found from duck eggs were Salmonella typhimurium, S. cerro, S. tennessee, S. amsterdam, S. agona and S. infantis accounting for 5.5%, 4.1%, 2.8%, 2.1%, 1.4% and 1.1%, respectively.     

Juvenile myoclonic epilepsy

CONCLUSION: We conclude that despite inevitable variability the clinical picture of JME is characteristic. It is easy to diagnose JME if one thinks of it while the history should be thoroughly analyzed. An EEG recording during sleep confirms the diagnosis. An early diagnosis of JME permits adequate prognosis of the subsequent course of epilepsy, and adequate therapy brings remission in most of the patients. If treatment starts following the large number of severe GTC seizures, the response to therapy is incomplete. The persistency of the illness throughout the life, the need for continuous medication and therapeutic unresponsiveness in cases with late diagnosis, do not justify the increasing misconception that JME is of benign nature. Diagnosis of JME is rare because of insufficient familiarily of physicians with the illness. BACKGROUND: Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epileptic syndrome characterized with the combination of myoclonic, generalized tonic-clonic (GTC) and absence seizures that are readily provoked by sleep deprivation. PATIENTS: Forty-three patients, aged from 14 to 51 years, participated in a 5-year follow-up study. Diagnosis was made according to the criteria (Table 1) for diagnosis of JME set by Panayiotopoulos et al. (1994). Nineteen patients made their first contact with a neurologist at the Institute of Neurology and were diagnosed as JME, while the remaining 24 were referred to from other medical institutions with a diagnosis of therapy resistant to focal epilepsy. All patients underwent a somatic and neurological examination, "mini mental test," EEG in waking and CT scan of the brain. Some patients had EEG performed during sleep and some had MRI of the head. RESULTS: JME began between 9 and 26 (average 17) years. All patients had myoclonic seizures, 98% had GTC and 23% absence seizures. The first myoclonic seizure occurred between 9 and 24 years while the frst GTC seizure occurred between 10 and 32 years. Myoclonic seizures (83% of patients) and GTC seizures (70% of patients) occurred most often immediately after awaking. The most frequent provocative factors were insufficient sleep, alcohol abuse and tiredness. Epilepsy in the family was present in 39%, focal neurological deficiency in 9% and pathological findings on of CT and MRI in 7% of patients. Waking EEG was pathological in 77% of patients; it included generalized spike-wave discharges in 73%, multiple spike-wave complexes in 33% and focal discharges in 12% of patients, respectively. In all 26 patients tested, sleep EEG was pathological most often with multiple spike-wave complexes in 85% and 3-4 Hz spike-wave complexes in 57% of patients. The correct diagnosis of JME following a comprehensive examination was made in 24 (56%) patients after a delay of 1 to 35 years. In 24 patients with delayed diagnosis of JME the replacement of earlier medication with valproic acid (VPA) induced remission in 18 patients (75%) while 1 patient (4%) experienced a reduction in the number of seizures. Five patients (21%) did not respond to VPA medication: 2 due to a weak compliance, another 2 due to inefficient medication and 1 because of the preexistent malabsorption syndrome. In 19 patients (44%) with initial diagnosis of JME, VPA was introduced immediately upon diagnosis. Of them, 15 (79%) had excellent response to VPA, 1 refused therapy and for 3 patients there is no information. In 2 patients VPA was substituted due to side effects (hepatotoxicity and alopetia) with lamotrigine (low doses), which brought about decrease in frequency and mitigation in myoclonic seizures.     

Benign reflex myoclonic epilepsy in infants

A technique for NADH-diaphorase and glucose-6-phosphatase activity visualization at the light microscope level has been essentially modified by the use of a short pre-fixation of cryostat sections in a gluteraldehyde-containing fixative followed by a prolonged (18-20 h) incubation in the chilled (4-6 degrees C) standard media. Besides, for revealing NADH-diaphorase Triton X-100 is recommended to add to the incubation medium. The offered technical modifications secure a high staining intensity and specificity of both histochemical reactions tested without any substantial sophistication of the procedure.     

Is HLA-DRW13 (W6) associated with juvenile myoclonic epilepsy in Arab patients?

In a study of 32 unrelated Arab patients with juvenile myoclonic epilepsy (JME), we compared the frequencies of human leukocyte antigen (HLA) class I and II alleles with those of unrelated healthy controls. A significant difference between the phenotypic frequencies in JME patients and controls was observed for DRW13, the split of DRW6 (37.5 vs 11% of controls). The strength of association as measured by the relative risk was 4.85 for this antigen (p = 0.002). The possible association of JME with HLA-DRW6 recently reported in Caucasians was confirmed in this study. This finding speaks for the homogeneity of the disease among Arabic and Caucasian JME patients. The existence of this association is evidence of a locus in the HLA region that influences expression of JME.     

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5-1.0 per 1000 and a ratio of sibling risk to population prevalence (lambda(s)) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.     

Severe myoclonic epilepsy in infancy: evolution of seizures

Demonstration of the full extent of abnormality in patients with the Struge-Weber syndrome (SWS) is important for prognosis and in planning surgery to remove the seizure focus. We compared single-photon emission computed tomography (SPECT), MRI and CT in nine children under the age of 4 years with seizures as part of SWS, in an attempt to determine the optimal method of imaging in different clinical settings. Seven unilateral and two bilateral cases were studied by interictal 99mtechnetium hexamethylpropyleneamineoxime (HMPAO) SPECT, and contrast-enhanced CT and MRI, giving information on 11 abnormal hemispheres. All imaging modalities showed abnormalities in every child. Perfusion imaging showed focal regions of decreased uptake in 9 of 11 (82%) abnormal hemispheres and demonstrated a widespread decrease but no focal defect in 2; it also revealed crossed cerebellar diaschisis in 2 cases. CT demonstrated typical gyriform calcification in 9 of 11 (82%) affected hemispheres. Contrast-enhanced MRI showed more extensive involvement than contrast-enhanced CT in 5 of 11 (45%) cases. The area of hypoperfusion shown by SPECT was smaller than the area of contrast enhancement on MRI in 6 of 11 cases (55%), comparable in 3 (27%) and larger in 2 cases (18%). CT is sufficient to confirm the clinical diagnosis of SWS, but MRI frequently shows more extensive abnormal areas. 99mTc HMPAO imaging is a useful addition when it is important to know the full extent of the disease, for example prior to surgery. It is likely to detect areas of hypoperfusion, representing ischaemic regions, which may act as an epileptogenic focus and may not be shown by CT or MRI.     

Benign myoclonic epilepsy in childhood. A case report]

INTRODUCTION: Benign myoclonic epilepsy of childhood is a rare syndrome which appears at between 4 months and 3 years of age. The prognosis is good if diagnosed and treated early. It is characterized by many short crises (usually of 3 seconds and not more than 5-10 seconds long), proximal and cephalic jerking movements without falling to the ground, and at no particular time of the day. In the EEG polygraph background activity continues and crises coincide with generalized spike and wave or multiple spike and wave discharges of 1 to 2 seconds, accompanied by isolated myoclonic movements in the neck and deltoid muscles, which persist during NREM sleep. Benign epilepsy of childhood usually responds to monotherapy with valproic acid. In our case photosensitivity appeared at 7 years of age with persistence of generalized spikes and waves during sleep. CONCLUSION: We suggest that photosensitivity may be used as an index of the clinical course, and that treatment should continue to be given until photosensitivity disappears.     

Comparative clinico-pathophysiologic analysis of the characteristics of juvenile and late epilepsy

Having in view the evolutional and ontogenetical traits of the bioelectrical brain activity and age types of the nervous system reactivity to endogenous and exagenous epileptic noxious factors, the authors compared the clinical and pathogenetical characteristics of an epileptic process in children and adults. Although there were several similar signs in children and late epilepsy, the authors opposed these forms on the basis of a different character in the type of development of the disease and changes in the cerebral electrogenesis, at the basis of which there lies the metabolic characteristics of a maturating and involutional brain. These regularities permitted to establish the diagnostical and prognostical criteria in respect to each separate form of the disease.     

A clinical study of hypergraphia in epilepsy

Fifteen patients with epilepsy and hypergraphia were compared with 32 patients with epilepsy but without hypergraphia. The number of previous psychiatric episodes, the number of Washington Psychosocial Seizure Inventory (WPSI) items indicating emotional maladjustment, and the number of CT scan abnormalities were significantly greater in the hypergraphic patients than in the non-hypergraphic patients. Cognitive performance, EEG laterality and the scores of WPSI items related to the psychological stress of seizures did not differ significantly between the two groups. Hypergraphia reflects changes in emotional responsiveness secondary to organic temporal lobe lesions.     

Magnetoencephalography in partial epilepsy: clinical yield and localization accuracy

The goals of this study were to determine (1) the yield of magnetoencephalography (MEG) according to epilepsy type, (2) if MEG spike sources colocalize with focal epileptogenic pathology, and (3) if MEG can identify the epileptogenic zone when scalp ictal electroencephalogram (EEG) or magnetic resonance imaging (MRI) fail to localize it. Twenty-two patients with mesial temporal (10 patients), neocortical temporal (3 patients), and extratemporal lobe epilepsy (9 patients) were studied. A 37-channel biomagnetometer was used for simultaneously recording MEG with EEG. During the typical 2-3-hour MEG recording session, interictal epileptiform activity was observed in 16 of 22 patients. MEG localization yield was greater in patients with neocortical epilepsy (92%) than in those with mesial temporal lobe epilepsy (50%). In 5 of 6 patients with focal epileptogenic pathology, MEG spike sources were colocalized with the lesions. In 11 of 12 patients with nonlocalizing (ambiguous abnormalities or normal) MRI, MEG spike sources were localized in the region of the epileptogenic zone as ultimately defined by all clinical and EEG information (including intracranial EEG). In conclusion, MEG can reliably localize sources of spike discharges in patients with temporal and extratemporal lobe epilepsy. MEG sometimes provides noninvasive localization data that are not otherwise available with MRI or conventional scalp ictal EEG.     

Occurrence, causes and clinical characteristics of status epilepsy in adults

INTRODUCTION: Status epilepticus, particularly grand mal, is one of the gravest and most dramatic conditions in neurology requiring immediate attention. Status epilepticus can occur in epileptic patients, often with higher mortality rates in symptomatic than idiopathic, but also as an initial symptom of a number of neurological and systemic diseases. No data are available on the exact incidence rates of status epilepticus. According to some assessments, 10% of patients have at least one status epilepticus in their lifetime (3,6). The prognosis mostly depends on the main cause, time in which seizures are stopped and age of patients. Latest data available in literature suggest the mortality rate of 2-8%. MATERIALS AND METHODS: We analyzed frequency of hospital admissions, causes and clinical characteristics of status epilepticus in adults. The study was retrospective, based on case histories of epileptic patients from the Intensive Care Unit of the Neurology Clinic in Novi Sad in 1990, 1993 and 1995. Special emphasis was placed on differences in studied parameters between cases confirmed earlier and those with status epilepticus occurring as an initial symptom of some other illness or condition. RESULTS: Number of hospital admissions rose slightly in the interval observed in comparison with total admissions (0.68% in 1990, 1.24% in 1993, and 1.73% in 1995) (Tabs 1 and 2). During 1993, status epilepticus was more frequent in cases confirmed earlier (69%) compared with the years 1990 (56%) and 1995 (43%) (Graf.1). Epileptic patients were younger on the average than nonepileptic ones (Tab. 3). Status epilepticus occurred more often in male patients (Tab. 4). Irregular treatment was the prevailing cause in epileptic patients (Tab 5). Symptomatic status epilepticus was reported higher in 1990 and 1995, and stroke was definitely the predominant cause (Tab 6). Convulsive grand mal status prevailed in all patients (Graf 2). Focal status was a more frequent finding in nonepileptic patients (Graf 3). Every third in 16 patients died in 1993 and every fifth in 23 in 1995 probably due to the acute destructive brain damage rather than the status itself. No deaths occurred in 1990. DISCUSSION: According to research carried out by other authors, half of grand mal status cases occurred in confirmed epileptics (4). In our study the grand mal status was reported in 70.4% cases of epilepsy. Primary cause was abrupt withdrawal of antiepileptic treatment, infections, alcohol abuse and use of convulsive drugs. This is compatible with our results which confirm that grand mal status either primary or with secondary generalization prevail in both groups of patients (7,8,9). In terms of causes of status epilepticus in nonepileptic patients, literature data mainly suggest cerebral trauma, frontal brain tumors, cerebral arteriosclerosis or other vascular disorders and anaphylaxis (4). Our results point to stroke as the major cause of status epilepticus in nonepileptic patients, similar with data presented by Towne (10). There is no data in literature concerning the relation between sex of patients and occurrence of status. In our study status epilepticus occurred more frequently in male patients. CONCLUSION: The grand mal status was the major clinical type of status in all patients and was primarily caused by discontinued or irregular antiepileptic treatment in patients with confirmed epilepsy, and by stroke in nonepileptic patients.     

Algorithm on the clinical evaluation of epilepsy

The aetiology of growth retardation in children with X-linked hypophosphatemic rickets (HPR) has not been totally defined. We evaluated growth hormone (GH)/insulin-like growth factor-I (IGF-I) changes in relation to linear growth and biochemical parameters in seven children with X-linked hypophosphatemic rickets before and after treatment with 1,25-dihydroxyvitaminD3 and phosphate therapy for a year or more. Moreover, we compared patients' growth data and GH/IGF-I changes with those for 20 age-matched children with normal variant short stature (NVSS)[with normal GH secretion and height standard deviation score (HtSDS) before -2]. Before treatment, all children with HPR secreted normal GH in response to clonidine provocation (> 10 microgram/l) and their IGF-I concentration was significantly lower than those with NVSS. The HtSDS and growth velocity (GV) of children with HPR improved significantly after (-3.05, 8.9 cm/year, respectively) v. before (-3.9 and 4.1 cm/year, respectively) therapy. Their serum IGF-I concentration increased significantly from 76.7 ng/ml before to 99.6 ng/ml after treatment. In summary children with HPR had no abnormality of GH secretion but improvement of their linear growth was associated with significant increase of circulating IGF-I concentration after treatment.     

Electroencephalogram findings in lesionectomies: preliminary results

INTRODUCTION: Use of the electrocorticogram (EcoG) in planning lesionectomies is a controversial subject at present. MATERIAL AND METHODS: We describe a series of 5 patients with epileptic crises, 3 with arteriovenous malformations in whom the lesion was completely resected, followed by postoperative angiography, and two with gliomas with low grade malignancy in whom iridium 192 was implanted. RESULTS: 1. The most frequent reason for consultation was convulsions. 2. In our series of patients the commonest site was the frontal zone of the right hemisphere. 3. Potentials with epileptiform characteristics were registered at the edges of the lesions and occasionally over the lesion itself. In two cases electro-clinical crises were seen. 4. The lesions were resected from normal tissue independently of the EcoG results. CONCLUSION: Although they are preliminary findings, the results of the study support the usefulness of this technique to guide the surgical procedures used for the treatment of intractable epilepsy.     

Psychopathology of posttraumatic epilepsy in the light of personal clinical observation

The influence of apomorphine, chloral hydrate, haloperidol, morphine, oxotremorine, pargyline, probenecid and promethazine on DOPAC and HVA levels was studied in the substantia nigra (including the ventral tegmental dopaminergic regions) and corpus striatum of the rat brain. The time--effect curves of changes in HVA levels after pretreatment with apomorphine, haloperidol, morphine, oxotremorine or promethazine are presented. The time--effect curves for the substantia nigra showed an initial rapid HVA rise, which was not observed in the corpus striatum. Promethazine treatment caused a small but significant HVA rise in the substantia nigra only. Chloral hydrate, morphine and oxotremorine induced a similar percentage increase in DOPAC and HVA levels in the substantia nigra as well as in the corpus striatum. Haloperidol, however, caused a small percentage change in the metabolite levels in the substantia nigra when compared to the pronounced rise seen in the corpus striatum. The apomorphine-induced HVA decrease observed in both structures provides evidence for the presence of a dopaminergic receptor in the substantia nigra.