Acquired factor VIII inhibitor in a non-haemophilic boy.

We describe the case of a previously healthy 8-year-old non-haemophilic boy who developed a factor VIII inhibitor of unknown origin. The symptoms of this disease were haemorrhages in the muscles of the right thigh, numerous bruises and a large haematoma of the right crus with subsequent tissue necrosis. Activated and non-activated prothrombin complex concentrates were administered in the therapy of the haemorrhages. To eliminate factor VIII inhibitor, the patient was treated first with prednisone, then immunoglobulin G and finally with a combination of prednisone and cycylophosphamide, without any effect. A total spontaneous remission was observed after 15 months from the beginning of the disease.

Epidemiological studies on Creutzfeldt-Jakob disease in Poland.

The epidemiological, clinical and neuropathological study of Creutzfeldt-Jakob disease (CJD) in Poland was established in 1996. It was preceded by wide, repeated informative action among neurologists and psychiatrists in the whole country. The investigations were partially sponsored by the European Commission (E.C.) as part of the programme Biomed 1. The results obtained by us during the first three years of the study are presented in this paper. In 1996-1998 over 60 probable or possible cases of CJD (or information about them) were referred to our Institute. Neuropathologically typical changes for spongiform encephalopathy were found in 28 cases (among them four cases in laboratories of Medical Schools in Szczecin and Poznan). Neuropathological evaluation was based on paraffin slices stained by H-E, PAS, Bielschowsky, Kanzler-Arendt and Klüver-Barrera methods. In certain cases antibody 3F4 was used. In three patients only clinically probable CJD were diagnosed, since neuropathology was not done. In twenty-five persons, a detailed inquiry form was filled in after the model indicated by the E.C. As the result of processing the whole material, we diagnosed in twenty-four patients a sporadic form of CJD. The remaining case belonged to a family with Gerstmann-Sträussler-Scheinker syndrome. In sporadic CJD cases examined and observed by us no exogenic risk factors for the disease could be detected.

[EEG value in cases of epileptic seizures in early phase of stroke]. / Wartosc badania EEG u pacjentów z napadami padaczkowymi we wczesnej fazie udaru mózgu.

The aim of our work was to assess the usefulness of EEG in patients with seizures in acute phase of stroke. EEG patterns of 54 patients with epileptic seizures at the onset of stroke were evaluated: 45 of ischaemic, 6 of haemorrhagic origin and 3 with lacunar stroke as confirmed by CT or MR examination. Out of 40 patients, who had a single or multiple seizures at the onset of stroke, EEG revealed focal slow waves in 90% and in 22.5% they were accompanied by interictal epileptiform discharges. None of those patients had recurrent seizures during the time of hospitalisation irrespectively of applying antiepileptic drugs. In the remaining 14 patients prolonged disturbances of consciousness were observed. EEG examination revealed simple partial status epilepticus (SE) in 10 and complex partial SE in 4 of them. In 11 of those patients EEG disclosed fragments of periodic lateralized epileptiform discharges (PLED) interrupted by seizure activity. The findings indicate that in patients with seizures in the acute phase of stroke EEG examination is very helpful in making the proper therapeutic decision by recognizing the SE. The introduction of antiepileptic drugs is generally not necessary in stroke patients with single seizures.

[Clinical picture of spinocerebellar ataxia type I (SCA1)]. / Obraz kliniczny bezladu rdzeniowo-mózdzkowego typu I (SCA1).

Spinocerebellar ataxia is a group of diseases with autosomal dominant inheritance heterogenous both clinically and genetically. So called dynamic mutations underlie most these nosological units. The clinical patterns of various SCA types have not yet been defined completely. The purpose of the present report was description of the typical symptoms and signs of type 1 SCA. Seventeen patients from 13 families (M-2, F-15) were studied clinically in detail. The diagnosis was confirmed by DNA analysis. The assessment included neurological status, cognitive functions, the results of EEG, EMG, SEP, VEP, BAER and MRI examinations. The pedigrees indicated autosomal dominant inheritance pattern. The mean age at onset was 35.5 +/- 6.8 years (range 23-45 years) and it suggested negative correlation with the number of CAG repetitions. Cerebellar syndrome limb and truncal, ataxia and dysarthria was present in all cases. Six patients had nystagmus, 3 had slow saccades, 2 had gaze limitation upward, and lateral and 6 had dysphagia. Signs of pyramidal system involvement were found in 10 cases, one had athetotic movements, one had orthostatic hypotension. Two patients had dementia features, 9 had some decline of intellectual functions, mainly with difficulties of memorization, learning and concentration. In 16 cases MRI demonstrated vermis atrophy and atrophy of cerebellar hemispheres, 14 had fourth ventricle dilatation, 8 had flattening of pons base, 8 had narrowing of cervical spinal cord, 8 had dilated CSF spaces over frontal lobes and in 6 cases lateral ventricles were dilated. Electrophysiological peripheral nervous system investigations showed in 16 cases long-standing damage to the motor and sensory peripheral neurons at the level of nerve trunks, more pronounced in sensory nerves. In 13 cases peripheral neuron damage was subclinical. SEP showed in all patients disturbed function of ascending sensory pathways at peripheral and spinocortical levels.

[Open study evaluating lamotrigine efficacy and safety in add-on treatment and consecutive monotherapy in adult patients with epilepsy resistant carbamazepine and valproate]. / Otwarte badanie oceniajace skutecznosc i bezpieczenstwo stosowania lamotriginy w terapii dodanej z przejsciem na monoterapie u pacjentów doroslych z padaczka z napadami opornymi na karbamazepine lub walproinian.

UNLABELLED: Lamotrigine is a broad-spectrum antiepileptic drug which is thought to act in part via a use-dependent blockade of voltage-sensitive sodium channels to stabilise the neuronal membrane. This results in the inhibition of the excessive release of excitatory amino acids, such as glutamate, during epileptic activity. An open, multicentre, prospective trial of lamotrigine was carried out in adult patients with drug-resistant epilepsy on monotherapy with carbamazepine or valproate. The primary aim of the study was to assess add-on lamotrigine withdrawing to monotherapy. 28-week clinical trial was divided into 4 phases: (1) Dose escalation period (4 weeks), (2) Add-on period (8 weeks), (3) Standard AED withdrawal period (8 weeks), (4) Lamotrigine monotherapy (8 weeks). Thirty-three patients were previously treated with valproate, 44 with carbamazepine. Of 77 patients recruited into the study, 64 patients (83%) completed add-on therapy, 49 patients (64%) completed lamotrigine monotherapy. 44% of all patients during the add-on phase and 48% during lamotrigine monotherapy had a reduction in seizure frequency of at least 50% compared with pre-study period. 13% of all patients achieved seizure freedom during add-on therapy and 18% during monotherapy. Improvement of Visual Analogue Scale (VAS) scores was observed in 65% and 57% patients respectively. A significant proportion of patients could be successfully converted to lamotrigine monotherapy. Lamotrigine was also generally well tolerated. 23 patients (30%) had at least one adverse event (AE), but only 1/4 of all AEs might be reasonably regarded as an effect of the medication. 7 patients (9%) discontinued prematurely from the study due to adverse event. More AEs were observed in add-on therapy than in lamotrigine monotherapy. The safety profile was consistent with that seen during other clinical trials with lamotrigine. CONCLUSIONS: 1. Lamotrigine is effective AED in add-on and monotherapy (responders rate--44% and 48% respectively). 2. In most cases conversion from add-on therapy to monotherapy can be done successfully. 3. Lamotrigine is a safe and well-tolerated drug.

[PLED pattern and its clinical significance in stroke patients]. / Zmiany w eeg typu PLED i ich kliniczne znaczenie u chorych z udarem mózgu.

The pathophysiological connection between periodic lateralized epileptiform discharges (PLED) and epileptic seizures is still not clear. In the study clinical data and EEG findings were analysed in 22 patients aged 43-90 years with a history of stroke in whom EEG disclosed PLED. Eleven patients were studied in the acute phase of stroke and 11 were studied years after stroke when the diagnosis was established of poststroke epilepsy. In 2 patients in acute stroke group single epileptic seizures occurred and 5 had partial status epilepticus. In the group with poststroke epilepsy 4 had single seizures and 4 had epileptic status with partial epilepsy seizures. Thus, in 15 out of 22 patients PLEDs were noted after epileptic seizures. In all cases PLED appearance was connected with consciousness disturbances, lasting 1 to 17 days. In 6 cases PLED pattern was interrupted by seizure activity over one hemisphere, in 3 of them partial epileptic seizures were associated with it. In acute phase of stroke neuroimaging demonstrated the presence of fresh ischaemic foci, but in cases of poststroke epilepsy no such fresh foci were observed. These results suggest that PLED frequently can be associated with epilepsy, and in some patients it can be a bioelectrical manifestation of partial status epileptic.

Motor evoked potential studies in Creutzfeldt-Jakob disease.

OBJECTIVES: Motor evoked potentials (MEPs) were recorded in 7 cases of Creutzfeldt-Jakob disease (CJD) to asses the involvement of pyramidal motor pathways in these cases. The diagnosis of CJD was confirmed by autopsy in 5 cases and based on clinical data in two cases. METHODS: Transcranial (MEP-cortex), root magnetic (MEP-root) and electrical stimulation of peripheral nerves (F-wave, direct M-response) were performed. The cortical excitability threshold, F-wave frequency, MEP amplitudes, peripheral motor conduction velocity, standardized distal latencies and central, root, and F-wave conduction times were evaluated. RESULTS: The results of MEP testing were markedly abnormal. Cortical excitability thresholds were elevated, MEP amplitudes were reduced while the conduction function was rather preserved. The features of functional disturbances and/or loss of upper and lower motor neurons were revealed. They correlated with the advancement of key clinical CJD symptoms (progressive dementia, extrapyramidal and cerebellar signs, myoclonic jerks, mutism and typical periodic EEG changes), while motor lesion signs might only be slight or absent. CONCLUSIONS: Conduction slowing, if present, seemed to be secondary to axonal lesion.

[Epileptic seizures in post-stroke patients]. / Napady padaczkowe u chorych po udarze mózgu.

We were investigating the frequency of early (within 30 days) and late (within 12 months) poststroke epileptic seizures, in our group consisting of 483 patients with stroke (423 cases of ischaemic stroke and 60 cases of haemorrhagic stroke) and without prior diagnosis of epilepsy. In 28 (5.8%) cases early seizures were observed. The most common type of early seizures were generalised seizures, slightly less frequent were simple partial seizures. EEG usually showed focal slow waves or non-specific slowing of background activity. Among 195 one-year survivors late seizures occurred in 6 (3.1%). 5 of them had ischaemic stroke. 30 day and 12 months fatality in the group of patients with seizures was not significantly higher than in all stroke patients.

[Electroencephalographic studies of family members of patients with juvenile myoclonic epilepsy]. / Badania elektroencefalograficzne u czlonków rodzin pacjentów z mlodziencza padaczka miokloniczna.

Juvenile myoclonic epilepsy (JME) is a common idiopathic generalized epilepsy (IGE); it has a clinical and probably a strong genetic relation to the other IGE forms. Generalized spike/polyspike-wave discharges (SW/PSW) are typical of all IGEs. The aim of our study was to determine the incidence of epilepsy and SW/PSW in EEG of family members of 12 JME patients. 35 first degree relatives aged over 15 years were examined. 40 min EEG with 5 min HV were recorded. IGE was diagnosed in 3 (8.6%) persons: JME in 2 and childhood absence epilepsy (CAE) in 1 person. Six more relatives (17.1%) had typical SW/PSW traits in EEG. Thus the IGE features were found in 9 (25.7%) individuals--members of 7 out of 12 families (58%). EEG of 7 other relatives (20%) revealed non-specific episodic diffuse or focal abnormalities. The above results reveal higher incidence of different kinds of ICEs and typical EEG traits in families of JME patients. This findings confirm familial susceptibility to IGE and may be helpful in genetical counselling.

Quantitative measure of complexity of EEG signal dynamics.

Since electroencephalographic (EEG) signal may be considered chaotic, Nonlinear Dynamics and Deterministic Chaos Theory may supply effective quantitative descriptors of EEG dynamics and of underlying chaos in the brain. We have used Karhunen-Loeve decomposition of the covariance matrix of the EEG signal to analyse EEG signals of 4 healthy subjects, under drug-free condition and under the influence of Diazepam. We found that what we call KL-complexity of the signal differs profoundly for the signals registered in different EEG channels, from about 5-8 for signals in frontal channels up to 40 and more in occipital ones. But no consistency in the influence of Diazepam administration on KL-complexity is observed. We also estimated the embedding dimension of the EEG signals of the same subjects, which turned to be between 7 and 11, so endorsing the presumption about existence of low-dimensional chaotic attractor. We are sure that nonlinear time series analysis can be used to investigate the dynamics underlying the generation of EEG signal. This approach does not seem practical yet, but deserves further study.

[Epileptic seizures in relation to the age of SSPE onset]. / Napady padaczkowe w zaleznosci od wieku zachorowania na SSPE.

The aim of this study is a clinical and electroencelographic analysis of those SSPE patients who suffered epileptic seizures in course of the disease. The material is based on an analysis of a computed database including 1180 case histories from multiple hospitalizations of 248 SSPE patients (141 males, 107 females) in years 1978-1995. The analysis was made using computer system EPI-INFO 6. The average age of SSPE onset was 12.3 +/- 4.5 (range 4-27.5). 74.2% of patients developed the disease before the age of 15. Epileptic seizures occurred in 43.5% (N = 108) of all SSPE patients in different stages of the disease. In 47 patients (M-21; F-26) they were observed among first SSPE symptoms, in 41 of those the seizures had the form of GTCS. Epileptic seizures were more frequent in patients with SSPE onset before the age of 15 (50.5%) than in patients with later onset (23.4%). More frequent occurrence of epileptic seizures and epileptiform changes in EEG in children under 15 can be associated with specificity of developmental age: immaturity of nervous and endocrine system and decreased convulsant threshold.

[Differential diagnosis in idiopathic generalized epilepsies with tonic-clonic seizures: assessment of the use of ambulatory EEG and video/EEG monitoring]. / Diagnostyka róznicowa w padaczkach idiopatycznych uogólnionych z napadami toniczno-klonicznymi--ocena uzytecznosci monitorowanych badan EEG i Video/EEG.

The value of long-term cassette EEG (24-EEG) and Video/EEG for differential diagnosis and classification of idiopathic epilepsies with generalised tonic-clonic seizures (GTCS) was evaluated in twenty-eight patients. The analysis of clinical and EEG features allowed proper classification of epileptic syndrome in twenty-two (79%) patients. In twelve cases absences or myoclonic seizures appeared beside GTCS after 1-9 years from epilepsy onset (mean 3.3 yrs). EEG and clinical data allowed to classify epilepsy in nine (75%) of those patients: in six patients as juvenile absence epilepsy and in three as juvenile myoclonic epilepsy. Sixteen patients suffered from GTCS only (mean duration of epilepsy 10.6 years); in thirteen of them (81%) the diagnosis of epilepsy with GTCS on awakening (AGM) could be established. 24-EEG and Video/EEG helped to demonstrate (a) interictal generalized spike/polyspike-wave discharges (SW/PSW) 3-6 Hz not present in routine EEG in 25% of patients, (b) typical circadian distribution of discharges in AGM patients and (c) absences and myoclonic seizures in 32% of patients. Slow spike-wave variants and focal changes in EEG which could suggest secondarily generalized GTCS were the main diagnostic problem.

[Clinical-electrophysiological pattern of juvenile myoclonic epilepsy]. / Ocena obrazu kliniczno-elektrofizjologicznego w mlodzienczej padaczce mioklonicznej.

18 patients (9 females, 9 males) with juvenile myoclonic epilepsy (JME) were studied. Despite a fairly long duration of the disease (from 1 to 34 years--mean 9.5 years) the patients had not been properly diagnosed. In all cases routine serial EEG examinations, 24-hour EEG with Medilog System 9000, and polygraphic Video/EEG/EMG recording were done (Videometry Processor, Glonner). Typical attack triads occurred in 7 cases (39%), grand mal seizures and myoclonic attacks in 10 cases (56%), one patient had only myoclonic seizures. EEG demonstrated already in routine recording occurrence of seizure activity with spike/polyspike-slow wave 3-6 Hz complexes. 24-hour EEG made possible demonstration of these complexes in the remaining 4 cases. Seizure activity during clinical myoclonic seizures were recorded in 8 cases, and during absences in 2 cases. A valuable method was also Video/EEG/EMG recording which showed occurrence of both myoclonic seizures (in 5 cases) and absences (9 cases). Three patients with absences were not aware of their seizures. In 8 patients EEG findings demonstrated focal abnormalities which contributed to previous diagnostic errors. The described clinical and electrophysiological features met fully the diagnostic criteria of JME. In the Polish literature this is the first report on such a large groups of JME cases. Attention is called to diagnostic difficulties due to poor knowledge of this disease and its manifestations which leads to inaccurate history taking. Another cause is non-availability of full neurophysiological diagnostic facilities in many centers.

[Clinical electroencephalographic diagnosis of myoclonus in various types of epilepsy]. / Diagnostyka kliniczno--elektroencefalograficzna mioklonii w róznych rodzajach padaczki.

Twenty-six epileptics, 16 males and 10 females, with various types of myoclonia were studied. In all patients routine EEG, 24-hour EEG and/or Video-EEG, also with EMG recording were done. Combined detailed clinical-electrophysiological analysis was possible owing to the modern methods of diagnostic examinations and it enabled five epileptic syndromes to be isolated in this group, that is: childhood epilepsy with absence attacks (CAE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), progressive myoclonic epilepsy (PME) and photogenic epilepsy. Clinical features of four types of myoclonia occurring in these cases are described in detail since they make possible differential diagnosis of epilepsy syndromes. This is important since the diagnostic and therapeutic methods differ in these cases, and similarly the prognosis varies in these epilepsy types. Stress is laid on juvenile myoclonic epilepsy which is as yet too rarely or erroneously diagnosed.

[Electrophysiologic methods in differential diagnosis of syncope]. / Róznicowa diagnostyka elektrofizjologiczna stanów o symptomatologii synkopalnej.

The purpose of the study was the assessment of the diagnostic possibilities and usefulness of 24-hour cassette EEG/ECG recording in the differential diagnosis of short attacks of consciousness disturbances and/or syncopal states, and demonstration of interrelations between arrhythmias and seizures of cerebral origin. 24-EEG/ECG was obtained in 71 patients, including 34 with cardiological history who had above disturbances. Recording of 24-EEG/ECG made possible establishing of correct diagnosis in 15 cases (21.1%): in 1 case it was sinus arrest, in 14--epilepsy. In another 5 cases (7%) arrhythmia or conduction disturbances were found which could have been the case of their attacks, they all were patients with cardiological history. The analysis of EEG/ECG records of 47 epileptic seizures in 16 patients showed that in 11 of them (69%) the seizures were associated with sinus tachycardia without other arrhythmias. These results demonstrated the complex cause-effect relationship of cardiocerebral disorders in the aetiology of these states, and the usefulness of 24-EEG/ECG in their detection.

[Use of 24-hour casette monitoring of the EEG recording in the differential diagnosis of attacks of unconsciousness in adults]. / Zastosowanie calodobowego kasetowego monitorowania zapisu EEG w diagnostyce róznicowej napadów nieswiadomosci u doroslych.

24-hour cassette recording of EEG using the Medilog 9000 system was done in 36 patients referred for observations because of diagnostic difficulties in cases of refractors unconsciousness attacks. The method made possible isolation of 3 groups: 1. 6 patients with attacks not suggestive of epilepsy 2. 12 patients with false unconsciousness attacks which were in fact short partial complex seizures (temporal lobe absence) 3. 17 patients with actual unconsciousness attacks. The study demonstrated a high usefulness of 24-hour EEG monitoring in the differential diagnosis of unconsciousness attacks increasing the likelihood of attack recording and making possible their precise clinical and EEG characteristics which is often impossible with routine EEG and history taking.

[Diagnostic value of 24-hour simultaneous EEG and ECG monitoring of patients with heart diseases and atypical consciousness disorders]. / Znaczenie diagnostyczne calodobowego jednoczasowego monitorowania EEG i ECG u osób z chorobami serca i nietypowymi zaburzeniami swiadomosci.

In 24 patients with diagnostically not clear, short, recurrent episodes of consciousness disturbances and heart diseases and/or a history of arrhythmia simultaneous 24-hour recording was done of eeg and ecg. In the differential diagnosis epilepsy was considered, especially since in most cases routine eeg records demonstrated slight episodic changes. During 24-hour recording in 8 cases typical episodes of consciousness disturbances developed but in none of them these episodes were associated with arrhythmia which ruled out their cardiogenic origin. In 2 cases EEG recording served for establishing the diagnosis of partial complex seizures, 2 patients had hyperventilation syncope, one had TIA, in the remaining 3 cases absence of eeg and ecg changes during these episodes and coexistence of anxiety neurosis suggested functional origin. So the combined 24-hour eeg+ecg recording made possible establishing of diagnosis in 1/3 of these patients, enabling adequate treatment to be instituted.

[The importance of trace elements in the aetiology of dental caries]. / Znaczenie pierwiastków sladowych w etiologii próchnicy zebów.

Data reported in the literature on the role of trace elements in the aetiology of dental caries are reviewed. The study of these elements--apart from fluorine--whose anticarietic or carietogenic effects have not yet been established, may shed new light on the carietic process and may contribute to a better knowledge of its cause.

[Analysis of correlations between the content of various elements in hard tissues of milk teeth with and without caries]. / Analiza zaleznosci pomiedzy zawartosciami wybranych pierwiastków w twardych tkankach zebów mlecznych z próchnica i bez próchnicy.

Using the method of atomic absorption spectrometry the levels of calcium, magnesium, zinc, iron, strontium, nickel, manganese, copper were determined in the hard tissues of milk teeth with and without caries and the interrelations between these elements were analysed The obtained results were subjected to statistical analysis with an IMP 85 m computer. In the present study the analysis of the interrelations between elements was based on correlations and regression analyses. Many statistically significant interrelations were revealed between Mn and Fe, Mn and Zn, Mn and Cu, Mn and Ni, Fe and Zn, Fe and Cu, Fe and Ni, Zn and Cu, Zn and Ni. A decrease of the correlation coefficients was noted in carietic teeth. For the highly correlated elements equations of simple regression were calculated. A significant correlations was noted between caries and the levels of Mg, Zn, Fe, Sr, Ni, Mn, Cu in the hard tissues in milk teeth. The carietic milk teeth contained less Mg, Fe, Sr, Ni, Mn and Cu and much more Zn as compared to teeth without caries.