Clinical utility of complex assessment with evoked potentials in acute lymphoblastic leukemia survivors: comparison of various treatment protocols.

BACKGROUND: One of the greatest success of pediatric hematology is a prominent improvement of survival in acute lymphoblastic leukemia (ALL). Therefore, special attention needs to be paid to long-term side effects of the treatment such as neurotoxicity. One of the few diagnostic methods that allow an objective assessment of sensory systems are evoked potentials (EP). METHODS: The analyzed group consisted of 167 ALL long-term survivors, aged 4.9-28.4 years, without auditory, visual and sensory deviations. Patients were treated with New York (NY, n = 35), previous modified Berlin-Frankfurt-Münster (pBFM, n = 47) and BFM95 (n = 85) protocols. In order to assess the impact of radiotherapy on recorded EP, a joint analysis of NY and pBFM groups was performed. The control group consisted of 35 patients, aged 6-17 years. The analyzed patients underwent a complex assessment with visual EP (VEP), somatosensory EP (SEP) and brainstem auditory EP (BAEP) in accordance with current standards. RESULTS: ALL treatment contributed to the shortening of wave I latency (1.59 vs 1.90, P = 0.003) and prolongation of I-III (2.23 vs 2.04, P = 0.004) and I-V (4.57 vs 4.24, P = 0.002) interwave latencies of BAEP. A significant effect was also noticed in P100 (106.32 vs 101.57, P < 0.001) and N135 (151.42 vs 138.22, P < 0.001) latencies of VEP and N18 amplitude (3.24 vs 4.70, P = 0.007) and P25 latency (21.32 vs 23.39, P < 0.001) of SEP. The distribution of abnormalities between protocols was similar in BAEP (NY - 68.6%, pBFM - 61.7%, BFM95-69.4%, P = 0.650), VEP (NY - 68.6%, pBFM - 42.5%, BFM95-58.3%, P = 0.053) and significantly different for SEP (NY - 62.9%, pBFM - 36.2%, BFM95-53.0%, P = 0.045). The harmful effect of radiotherapy was most clearly marked in numerous disturbances of SEP parameters. CONCLUSIONS: The presented analysis indicates a high frequency of subclinical abnormalities in EP regardless of the analyzed protocol. To our knowledge current study is the largest and one of the most complex research examining the role of EP in ALL patients. The obtained results indicate the possibility of using a single, objective and non-invasive measurement of EP in ALL survivors in order to stratify the risk of developing sensory abnormalities in adulthood.

Comparative assessment of limb function and conduction parameters in peripheral nerves in the course of two forms of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis (ALS) is a progressive, incurable, neurodegenerative disease affecting the upper and lower motor neuron, which inevitably leads to the impaired fitness of patients and therefore deterioration of their quality of life. AIM: The aim of the study was a comparative assessment of two forms of ALS in terms of limb function and electrophysiological parameters of peripheral nerves. MATERIALS AND METHODS: 20 persons participated in the study, where 10 suffered from bulbar-onset ALS and 10 had limb-onset ALS. Patients were examined clinically and electrophysiologically three times at three-month intervals. Rene Zazzo's card test and Mira Stambak's line-drawing test as well as the 10-metre walk test were used to assess limb function. The results of electrophysiological conduction in the area of nerves of upper and lower limbs were subjected to statistical analysis, as were the results of tests used to assess limb function. RESULTS: The comparative analysis of the obtained results demonstrated that patients with limb-onset ALS showed significant deterioration of conduction in proximal nerve sections compared to patients with bulbaronset ALS. Clinical reflection of this was impairment of limb function with a tendency for progression of these changes over time. CONCLUSIONS: Progressive impairment of conduction in the area of proximal nerve sections and ventral roots of spinal nerves is reflected by the increasing disability of limbs in patients with ALS. In the course of the disease, patients with limb-onset ALS show both worse nerve conduction and limb function than patients with bulbar-onset ALS.

Correlation of electrophysiological parameters of peripheral nerves and manual dexterity in patients with amyotrophic lateral sclerosis.

OBJECTIVE: Introduction: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting upper and lower motor neurons, presenting with various manifestations, leading to progressing disability, with poor prognosis, and with no options for successful treatment. In its classic form the central and peripheral motor neurons are simultaneously affected at the beginning; the bulbar-onset ALS successively involving other parts of the nervous system is slightly less common. The aim: To demonstrate a correlation between electrophysiological parameters of peripheral nerves and loss of manual dexterity in the ALS. PATIENTS AND METHODS: Materials and methods: The analysis covered results of electrophysiological tests of motor conductivity in median and ulnar nerves, and results of the Mira Stambak and Rene Zazzo tests normally used to evaluate lateralisation, while in this study they were adapted to verify manual dexterity. The study covered 20 patients with clinically confirmed or possible ALS determined on the basis of the EI Escorial criteria. Half (10 people) of the studied group had limb-onset ALS, while the other half had the bulbar-onset ALS. RESULTS: Results: When evaluating a correlation between the results of electrophysiological tests and the results of the Mira Stambak and Rene Zazzo tests, a significant relationship was found between a reduction in an amplitude of the compound muscle action potential (CMAP) and deterioration in manual dexterity in the subjects, with a tendency for progression in these deviations, but with their interdependency maintained. CONCLUSION: Conclusions: 1. A loss of motor cells in the anterior horns of the spinal cord is reflected in the deterioration of manual dexterity in ALS patients. 2. A significant correlation is found between a loss in manual dexterity and an increase in changes in motor conductivity.

[Neurophysiological parameters in myasthena gravis in children in diagnostic and therapeutic view]. / Parametry neurofizjologiczne w miastenia gravis u dzieci w swietle diagnostyki i leczenia.

BACKGROUND: Myasthenia gravis (MG) is an autoimmunologic disorder. It is characterized by various clinical symptoms and their dependency upon the exertion and the rest as well. MATERIAL AND METHODS: Between 2002-20014 in the Neurophysiology Laboratory at the Chair of Pediatric and Adolescent Neurology, Jagiellonian University in Krakow, the electrophysiological repetitive nerve stimulation study were performed in 44 children. The clinical picture and positive electrophysiological test were the ground to diagnose MG in 19 of them (12 girls and 7 boys). The mean age at onset of MG in the examined group was 12.8 years. In 5 patients the diagnosis was completed using edrophonium test. In 14patients the titer of AchRAb was also tested. In 18 patients with MG the radiological examinations of the chest were performed. In 14/19 patients with MG the control electrophysiological testing was performed 2 to 8 months after the first one. RESULTS: The gen-ralized MG was diagnosed in 14 patients, and ocular in 2 of them. The amplitude of electro-physiological testing was normal during the first response in all patients, but the decrement of amplitude 4:1 in patients with MG was 26% to 88%. In 3 patients with MG the persisted thymus, while in 7 hypertrophy of thymus, in 2 thymoma nad inl thyinflammation of the thymus was detected. In 5 children the result of chest examination was normal. Among 5/8 patients (62.5%) with positive AChRAb, in one ocular MG was diagnosed, in the other 7 generalized MG. The titer of AChRAb was between 0.4 and 30.8 nmol/l (mean 9.44 nmol/l), and the decrement of amplitude 4:1 was 22% to 58%.. In the treatment pirydostygmine bromide (Mestinon) was used in all children, however in 4 of them together with azathioprine, and in 7 with steroids. In the treatment of myasthenic crisis in 5 patients plasmapheresis was performed. In 42% of patients thymectomy was performed during the first year after diagnosis. The clinical remission was succeed in 90,9% patients. The electrophysiological control examination detected the decrement of amplitude 4:1 in 1% to 80% (mean 36%). The electrophysiological remission, correlating with clinical remission was achieved in 2 patients. In 6/10 patients with clinical remission, the decrement of amplitude 4:1 in electrophysiological examination continued to be at the level similar to initial examination. In 1 patient remission was complete allowing significant reduction of doses of Mestinon, even though in the electrophysiological test the decrement was 80%. CONCLUSIONS: (1) Among hospitalized children, the generalized myasthenia was the most common. (2) Neurophysiological studies plays still fundamental role in diagnostic methods in the diagnosis of myasthenia gravis in children. (3) The correlation of the clinical state and electrophysiological results was not established.

[Exogenous evoked potentials in adolesccents with muftiple sclerosis]. / Potencjaly egzogenne u mlodocianych ze stwardnieniem rozsianym.

INTRODUCTION: Multiple sclerosis (MS) is a chronic inflammatory and demyelinating disease of the central nervous system. The disease usually affects young people, with a peak onset between the ages of 20 and 40, although it may also occur in early childhood. MS is one of the most common reasons of disability in young people. Aim of the study. The aim of the study was a neurophysiological characterisation of patients with relapsing-remitting MS (RRMS) eligible to receive an. MATERIAL AND METHODS: In this study 23 patients have been included. According to initial symptoms two categories of patients were identified: in one group [group 1] (12123) there were patients with focal signs such as motor andlor sensory abnormalities while the second one [group 2] (11123) consisted of patients with retrobulbar optic neuritis. RESULTS: There were no significant differences in VEP latencies and amplitudes in both I and 2 group. In both groups a significant latency prolongation as well as P100 amplitude decrease has been observed in comparison to the control group. Furthermore, the study has shown that the average latencies of N75 and N135 in group 2 were prolongated when compared to the control group. In BAEP examination no statistically relevant differences have been observed between average latencies and interlatencies in group I and group 2 as well as between the two test groups and control group. In SSEP examination group I has demonstrated a substantial latency prolongation of P14, NIB and N20 when compared to the control group, and the same result for P14, N20, P25 and CCT has been detected in group 2. The average amplitudes of all waves in group I were insignificantly lower than in the control group. In group 2 an insignificant decrease of amplitudes P9 and P18 from the control group has been noticed. In contrast, P25 amplitude was significantly lower. CONCLUSIONS: I. Visual evoked potentials test is an effective neurophysiological method in a diagnosis of subclinical focal demyelination in CNS. 2. Auditory pathway is highly resistant to demyelination processes in CNS. 3. The presence of changes in somatosensory evoked potentials indicates a demand for further precise diagnosis of spinal location of MS.

[Characteristics of ischemic stroke in children in the years 1968-1998 and 2010-2015]. / Charakterystyka udaru niedokrwiennego u dzieci w latach 1968-1998 i 2010-2015.

BACKGROUND: Ischemic strokes in children are rare. The etiology and risk factors for ischemic stroke in children and adolescence differ from those typical in adults. Clinical symptoms depend on the location, extent of damage of the central nervous system and age. The aim of the study was to compare the clinical picture of ischemic stroke in children at two periods. MATERIAL AND METHODS: The study included children who had a stroke: 32 children (group I) in the years 1968-1998 and 27 children (group II) in 2010-2015. In each case medical history, physical and neurological examination, laboratory tests and neuroimaging were taken. To determine the location of ischemia in children The Oxford Community Stroke Project classification was used. To determine the score of hemiparesis the Ashworth scale was used. RESULTS: Pregnancy, delivery, neonatal period and neurological history in the majority of children enrolled to the study, was unbounded. Etiology of stroke in first group was found in 20 children. Diagnosis of ischemic stroke was made on the basis of angiography in 13 children, while the remaining 19 based on head CT. TACI were found in 11 children, while PACI had 21 children. In the Ashworth scale I score of paralysis was observed in 14 children; 2 score in 5 children. 3 score had 11 children and 2 children 4 score of paralysis. In the second group, the etiology of stroke was found in 6 children. Ischemic stroke in all children was diagnosed based on CT scans. Additionaly, 24 children had MRI, 4 children had CT angiography and in 5 children MRA. TACI was diagnosed in 3 children, in the next 21 children PACI and POCI in other 3 children. The Ashworth Scale score 1 paralysis were observed in 8 children and score 2 at 16. 2 children had paresis score 3, in 1 paralysis had score 4. No child in group I and II, had hemorrhagic stroke. In the pharmacological treatment of the acute phase of stroke steroidotherapy and diuretics were used, in children with infection antibiotic therapy was introduced. Antithrombotic therapy was administered in 2 children. Neuroprotective treatment (piracetam) and rehabilitation therapy was used. Children with ischemic stroke in group I were hospitalized an average of 80 days. Hospitalization time in group II was an average of 23 days. CONCLUSIONS: 1. In spite of dynamic development of laboratory diagnosis detection of the etiology of ischemic stroke in children has not improved. 2. Computed tomography is still a primary diagnostic tool in the diagnosis of stroke in children. 3. In both groups of children hospitalization in the years 1968-1998 and 2010-2015 clinical consequences after ischemic were observed. 4. Majority of children after ischemic stroke has a small degree of paralysis. 5. Better availability of outpatient multidisciplinary rehabilitation treatment enabled significantly shortened hospitalization of children in 2010-2015.

[Guillain-Barre syndrome in children in 2009-2014 years]. / Zespól Guillain-Barre u dzieci w latach 2009-2014.

INTRODUCTION: Guillain-Barre syndrome (GBS) is an acute polyradiculoneuropathy with a variable clinical presentation and is the most common cause of acute palsy in children. The classic presentation is an acute monophasic, nonfebrile, postinfectious illness manifesting as an ascending flaccid palsy with areflexia. Aim. Analysis of children with GBS in 6 years observation. MATERIAL AND METHODS: In the present study we describe a population of 21 children (19 boys and 2 girls) with GBS hospitalized in the years 2009-2014 in our department. In this group 20 children (95%) had flaccid palsy of limbs, 13 children (62%) had previous respiratory or digestive infections. 17 (81%) children were treated by plasmapheresis, 3 (14%) by intravenous immunoglobulin with good outcome. CONCLUSIONS: For 6 years mechanical ventilation was not used in children with GBS.

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.

Barth syndrome is a rare disease affecting mitochondria structure and function in males. In our previous study, we have shown a new mutation (c.83T>A, p.Val28Glu) in the TAZ gene in two affected patients with congenital cardiomyopathy. Furthermore, women in this family had no mutations in their blood cells, whereas they only had mutations in the oral epithelial cells. The objective of the project was to evaluate the effect of intertissue mosaicisms on the Barth syndrome phenotypes, searching for another disease-related loci on chromosome X and finally to assess the consequences of the mutation. We conducted the advanced genetic study including cytogenetic research (constitutional karyotyping in blood and fibroblasts), NGS sequencing (with custom chromosome X sequencing together with the evaluation of loss of heterozygosity (LOH) and aberrations (CNV) in the whole genome) in four different tissues and sequencing of tafazzin and deoxyribonuclease 1 like 1 transcripts. The presence of deletions within the 5'untranslated region of the TAZ gene and/or the noncoding regions of the DNASE1L1 gene were detected in several tissues. Whereas, there is no intertissue mosaicism regarding point mutation in TAZ gene in all investigated tissues in female carriers. Only the male patient presented biochemical markers and neurological symptoms of Barth syndrome. All the female carriers are healthy and have normal tafazzin and deoxyribonuclease 1 like 1 transcripts in 2 analyzed tissues. The conclusion of this study is that we cannot rule out or confirm mosaicism in the noncoding regions of TAZ or DNASE1L1 genes, but this is not clinically relevant in female carriers because they are healthy. Finally, it has been proven that mutation (c.83T>A, p.Val28Glu) is responsible for disease in males in this family.

EEG phase synchronization during absence seizures.

Absence seizures-generalized rhythmic spike-and-wave discharges (SWDs) are the defining property of childhood (CAE) and juvenile (JAE) absence epilepsies. Such seizures are the most compelling examples of pathological neuronal hypersynchrony. All the absence detection algorithms proposed so far have been derived from the properties of individual SWDs. In this work, we investigate EEG phase synchronization in patients with CAE/JAE and healthy subjects to explore the possibility of using the wavelet phase synchronization index to detect seizures and quantify their disorganization (fragmentation). The overlap of the ictal and interictal probability density functions was high enough to preclude effective seizure detection based solely on changes in EEG synchronization. We used a machine learning classifier with the phase synchronization index (calculated for 1 s data segments with 0.5 s overlap) and the normalized amplitude as features to detect generalized SWDs. Using 19 channels (10-20 setup), we identified 99.2% of absences. However, the overlap of the segments classified as ictal with seizures was only 83%. The analysis showed that seizures were disorganized in approximately half of the 65 subjects. On average, generalized SWDs lasted about 80% of the duration of abnormal EEG activity. The disruption of the ictal rhythm can manifest itself as the disappearance of epileptic spikes (with high-amplitude delta waves persisting), transient cessation of epileptic discharges, or loss of global synchronization. The detector can analyze a real-time data stream. Its performance is good for a six-channel setup (Fp1, Fp2, F7, F8, O1, O2), which can be implemented as an unobtrusive EEG headband. False detections are rare for controls and young adults (0.03% and 0.02%, respectively). In patients, they are more frequent (0.5%), but in approximately 82% cases, classification errors are caused by short epileptiform discharges. Most importantly, the proposed detector can be applied to parts of EEG with abnormal EEG activity to quantitatively determine seizure fragmentation. This property is important because a previous study reported that the probability of disorganized discharges is eight times higher in JAE than in CAE. Future research must establish whether seizure properties (frequency, length, fragmentation, etc.) and clinical characteristics can help distinguish CAE and JAE.

Screening of subclinical P300 event-related potentials changes in childhood acute lymphoblastic leukemia survivors.

Modern treatment of childhood acute lymphoblastic leukemia (ALL) has resulted in a high cure rate; however, it can cause central nervous system toxicity. In the present study, a group of 136 ALL survivors were screened for changes in P300. Therapy was conducted according to a modified New York (NY) protocol (30 patients) and two subsequent revisions of a modified Berlin-Frankfurt-Münster (BFM) protocol (32 and 74 patients). The control group consisted of 58 patients. The survivors had significantly prolonged mean latency of P300 (331.31±28.71 vs. 298.14±38.76 msec, P<0.001) and reaction time (439.51±119.86 vs. 380.11±79.94 msec, P=0.002) compared with in the control group. Abnormalities in the endogenous evoked potentials were observed in 36 patients (26.5%). The mean latency time was significantly longer in the treatment groups compared with in the control group (NY: 329.13±28.07 msec, P=0.001; pBFM: 332.97±23.97 msec, P<0.001; BFM95: 331.47±31.05 msec, P<0.001). The reaction time was equally prolonged in both groups. In comparisons between the studied groups and the control group the most significant prolongation was recorded in the NY group (461.8±140.3 vs. 380.1±78.04 msec, P=0.039). Significantly higher frequency of prolonged reaction time in non-irradiated patients that received BFM95 was also revealed (21.62 vs. 15.85%, P=0.007). In addition, radiotherapy significantly reduced the P300 wave amplitude (mean values: 10.395±5.727 vs. 12.739±6.508 mV, P=0.027). In conclusion, endogenous P300 event-related potentials may be a useful tool in screening of subclinical cognitive changes in ALL survivors.

Pediatric-onset multiple sclerosis in Poland: A registry-based retrospective cohort study.

BACKGROUND: Epidemiologic data on pediatric-onset multiple sclerosis (POMS) in Central and Eastern Europe are limited. The aim of this study was to determine the incidence, prevalence and the clinical features of POMS in Poland. METHODS: Registry-based retrospective study was conducted among Polish children population (age ≤ 18 years), between 1 January 2010 and 31 December 2019. A total of 329 pediatric or juvenile patients fulfilled the International Pediatric MS Study Group (IPMSSG) criteria for MS, reported to the Polish Multiple Sclerosis Registry, were considered for estimation of age- and sex-specific prevalence (per 100,000 persons), and incidence rates (per 100,000 person-years). The demographic data, clinical presentation and treatment strategies also were investigated. RESULTS: On December 31, 2019 in the database were collected data of 329 patients up to 18 years with POMS diagnosis (101 boys and 228 girls; mean age 15.3 ± 3.8 years). The age-adjusted prevalence standardized to the European Standard Population was 5.19/100,000 (95% confidence interval (CI), 4.64-5.78). A significantly higher prevalence was recorded in girls (7.41; 95% CI, 6.48-8.44) than in boys (3.08; 95% CI, 2.50-3.74; P<0.001). The mean annual standardized incidence in Poland between 2015 - 2019 was 0.77 (95%CI, 0.45-1.02) per 100,000 person-years. The highest overall standardized incidence 1.06 (95%CI, 0.82-1.34) was noted in 2018. Most of patients (95.7%) had relapsing-remitting disease with polysymptomatic onset in one-thirds of the cases, and 82.3% were treated with disease-modifying drugs. Family history of MS was reported in 26 cases (7.9%). CONCLUSION: In this first report of registry-based study from Poland an increasing prevalence and incidence of POMS was found during the last years. This temporal trend corroborate the findings of studies conducted elsewhere.

The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland.

Background. Paediatric-onset MS (POMS) has a unique clinical profile compared to the more prevalent adult-onset MS. For this study, we aimed to determine the demographic and clinical characteristics of POMS in Poland as well as addressing some of its epidemiological aspects. Methods. A retrospective study was conducted based on the Polish Multiple Sclerosis Registry, considering a population of children and adolescents with MS (age ≤ 18 years). Data were collected by all 13 centres across Poland specializing in diagnosing and treating POMS. The actual course of the disease and its clinical properties were compared between child (≤12 years) and juvenile (>12 years) patients. MS onset and its prevalence were assessed at the end of 2019, stratified by age range. Results. A total of 329 paediatric or juvenile patients (228 girls, 101 boys) with a clinically definite diagnosis of MS, in conformity with the 2017 McDonald Criteria, were enrolled. For 71 children (21.6%), the first symptoms appeared before the age of 12. The female: male ratio increased with age, amounting to 1:1 in the ≤12 years group and to 2.9:1 in the >12 years group. In most cases, the disease had multi-symptomatic onset (31.3%), and its course was mostly of a relapsing−remitting character (95.7%). The initial Expanded Disability Status Score for both groups was 1.63 ± 1.1, whereas the annual relapse rate was 0.84 during the first 2 years. The time between the onset of symptoms and diagnosis was longer in the younger patients (8.2 ± 4.2 vs. 4.6 ± 3.6 months; p < 0.005). On 31 December 2019, the age-adjusted prevalence standardized to the European standard population was 5.19/100,000 (95% CI, 4.64−5.78). Significantly higher prevalence was noted in the 13−18 years group (7.12; 95% CI, 6.64−7.86) than in the 9−12 years group (3.41; 95% CI, 2.98−3.86) and the <9 years group (0.56; 95% CI, 0.46−0.64; p < 0.001). Conclusion. POMS commencing at the age of ≤12 years is rare, differing significantly from the juvenile-onset and adult MS in terms of clinical characteristics, course, and incidence, as stratified by gender.

Absence Seizure Detection Algorithm for Portable EEG Devices.

Absence seizures are generalized nonmotor epileptic seizures with abrupt onset and termination. Transient impairment of consciousness and spike-slow wave discharges (SWDs) in EEG are their characteristic manifestations. This type of seizure is severe in two common pediatric syndromes: childhood (CAE) and juvenile (JAE) absence epilepsy. The appearance of low-cost, portable EEG devices has paved the way for long-term, remote monitoring of CAE and JAE patients. The potential benefits of this kind of monitoring include facilitating diagnosis, personalized drug titration, and determining the duration of pharmacotherapy. Herein, we present a novel absence detection algorithm based on the properties of the complex Morlet continuous wavelet transform of SWDs. We used a dataset containing EEGs from 64 patients (37 h of recordings with almost 400 seizures) and 30 age and sex-matched controls (9 h of recordings) for development and testing. For seizures lasting longer than 2 s, the detector, which analyzed two bipolar EEG channels (Fp1-T3 and Fp2-T4), achieved a sensitivity of 97.6% with 0.7/h detection rate. In the patients, all false detections were associated with epileptiform discharges, which did not yield clinical manifestations. When the duration threshold was raised to 3 s, the false detection rate fell to 0.5/h. The overlap of automatically detected seizures with the actual seizures was equal to ~96%. For EEG recordings sampled at 250 Hz, the one-channel processing speed for midrange smartphones running Android 10 (about 0.2 s per 1 min of EEG) was high enough for real-time seizure detection.

[Visual and auditory evoked potentials parameters in multiple sclerosis in children]. / Parametry wzrokowych i sluchowych potencjalów wywolanych w stwardnieniu rozsianym wieku rozwojowego.

BACKGROUND: Evoked potentials (EP) visual (VEP) and auditory (BAEP) are used in diagnostics of demyelinating diseases, especially multiple sclerosis (MS). Elongation of the EP latencies and interlatencies has been found so far and sometimes change in the shape of the responses or decrease of their amplitudes has been registered as well. AIM OF THE STUDY: Characteristics of VEP and BAEP parameters in Polish children with MS. MATERIAL AND METHODS: Analysis included examination results of 10 patients with MS, at the age range from 13 to 17 years, 5 girls and 5 boys, hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology Jagiellonian University Collegium Medicum in Krakow, in the years 2004-2010. Control group consisted of 10 children with similar age and sex distribution. VEP were registered during monocular stimulation with black and white checkerboard pattern reversal (pattern reversal VEP). Responses were registered from three active electrodes O1, O2 and Oz (according to the 10-20 International System of Electrode Placement). Latency of the maximal positive deflection P100, preceding N75 component, following N135 and N75/P100 amplitude were analysed. BAEP were evoked during alternating stimulation of the left and right ear, with the use of acoustic stimulus ("click") at 70 dB HL. The responses were registered from two receiving electrodes localized on the mastoid processes and from reference electrode Cz (according to the 10-20 International System of Electrode Placement). Latencies of I, II and V deflection and interlatencies: I-III, III-V, I-V were analyzed. RESULTS: As far as VEP are concerned, significant elongation of P100 latencies was revealed in children from examined group when compared with control. N75/P100 amplitude differences were not statistically significant in both groups. BAEP analysis revealed significant elongation of III and V wave latencies and III-V, I-V interlatencies. CONCLUSIONS: Evoked potentials, visual and auditory are important paraclinical tests used in MS diagnostics in children. They are used in identification of clinically silent demyelinating foci.

[Specific aspects of child's electroneurography and electromyography: literature and own experience]. / Specyficzne aspekty elektroneurografii i elektromiografii dzieciecej: przeglad pismiennictwa i doswiadczenia wlasne.

BACKGROUND: Despite introduction of modern molecular diagnostics, electrophysiologic examinations still play an important role in the neuromuscular diseases diagnostics and in the disease course and convalescence process monitoring. EMG examination enables determination of location and character of peripheral impairment, establishment of neurogenic or myogenic impairment or neuromuscular transmission disorders and also determination if the process is acute or chronic, localized or generalized. EMG examination is also helpful in detection of subclinical pathology. In neurogenic processes it enables differentiation of spinal and peripheral nerve trunks impairment. MATERIAL AND METHODS: Electrophysiological demyelinization criteria commonly used in adults have limited application in children. In the youngest children electrodes with smaller surface and distance between the poles are used in conduction examination. This cause difficulties in interpretation of the obtained results and requires the use of own norms considering values obtained with the use of smaller stimulating and receiving electrodes. Many technical factors have to be considered in the correct evaluation of electroneurographic and electromyographic recordings, which in adults have significantly lower influence on the results interpretation. Normal EMG result in a small infant does not exclude myopathy especially congenital myopathy. On account of child anxiety usually accompanying the examination the scheme of EMG examination should be elastic. RESULTS: Authors illustrated specificity of these problems in children with own results.

[Structural MR of the brain changes in infants with epilepsy]. / Zmiany strukturalne w badaniu MR mózgu u dzieci z padaczka pierwszego roku zycia.

BACKGROUND: Epilepsy in first year of life needs constant attention due to diagnostic and therapeutic difficulties. AIM: The aim of the study was to identify cause of symptomatic epilepsy in infants from mlopolskie and podkarpackie provinces hospitalized in Pediatric Neurology Clinic of Children and Adolescents Neurology Cathedra UJ in Cracow. MATERIAL AND METHODS: 110 children with epilepsy aged from 1 week to 24 months hospitalized between 1st of January 2006 and 31st of December 2009. The group included 55 girls and 55 boys. On the basis of clinical characteristics and results of neuroimaging synptomatic epilepsy was diagnosed. Perinatal burdening was cause of epilepsy in 35/ 110. Other causes were identified in 34/ 110 children and in remaining 41/110 children the cause was not established. RESULTS: Developmental effects syndrome was diagnosed in 17 children, in cases 6 neurocutaneous syndromes, in 2 inflamatory CSN involvement and in 1 asphyxia were the cause of epilepsy. In children in infancy generalized seizures were diagnosed the most often and facal and polymorphic seizures were less often. CONCLUSIONS: 1. Widely using MR scan provides better recognition structural background of symptomatic epilepsy. 2. Brain atropy was the most often found change. 3. The most often cause of symptomatic epilepsy in the first year of life was pathology of perinatal period. 4. Generalized seizures were the most often manifestation of early childhood epilepsy.

[Structural MRI changes in children with epilepsy aged 2-18 years]. / Zmiany strukturalne w badaniu MR mózgu u dzieci z padaczka w wieku 2-18 lat.

BACKGROUND: Epilepsy can be one of symptoms of the damage to CNS in children, therefore neuroradiological examinations are necessary to complete diagnostics. The guidelines for imaging children with recent-onset epilepsy were published by experts of International League Against Epilepsy. AIM: The aim of this retrospective research was to analyze results of MRI in children aged 2 to 18 years, hospitalized between years 2008 and 2010 in the Department of Pediatric Neurology of the Chair of Neurology of Children and Adolescents of Jagiellonian University after the first epileptic attack, with recent-onset epilepsy or chronic epilepsy. MATERIAL AND METHODS: 119 children were included, within children hospitalized as urgent to exclude severe cause and children admitted for diagnostics, whose cerebral MRI revealed pathological changes. RESULTS: The most common anatomical change in MRI was asymmetry of ventricles, revealed in 32 children, within 13 with localized seizures. In 21 children non specific hiperintensive lesions of the white matter were detected, in 19 children seizures were not focal. Cortical atrophy was present in 11 children, seizures in 7 were focal. Venous angioma was diagnosed in 8 children (partial attacks were observed in 4). Dilated Virchow-Robin perivascular spaces were detected in 7 children, within 4 with partial seizures. Vasogenic scar or porencephaly was diagnosed in 6 children, and arachnoid cyst in 9, within 7 with focal seizures. In 4 children epilepsy was a result of hypoxic-ischemic damage, and in 3 resulted from neuroinfection. In 4 children brain neoplasm was detected (in 3 seizures were focal and in one status epilepticus occurred), in 3 other children pineal cyst was detected. In 9 children malformations of CNS were detected, and in single cases epilepsy was associated with Leigh syndrome or NF I, and in one child pituitary microadenoma was detected. CONCLUSION: Severe pathological process for surgical intervention manifested as focal attacks or status epilepticus, indicating the necessity of urgent neuroradiological examinations. In each case of the first attack or epilepsy neuroradiological tests are compulsory not as urgent, for confirming or excluding static lesions. This is important to establish prognosis and long-term management of the child with epilepsy. Children with idiopathic generalized epilepsy were not included, because hospitalization rarely is necessary.

[Familial epilepsy]. / Rodzinne zachorowania na padaczke.

BACKGROUND: Epilepsy is a chronic disease, with heterogeneous etiology, clinical spectrum and prognosis. Among many causes of epilepsy genetic factors and hereditary diseases with different inheritance mechanisms manifesting with epileptic seizures play an important role. Analysis of genealogy of families burdened with epilepsy, development of molecular and genetic tests may contribute to better understanding of mechanisms of epileptogenesis and more effective treatment of epilepsy. AIM OF THE STUDY: Research and analysis of epilepsy incidence in families of children hospitalized because of epilepsy. MATERIAL AND METHODS: The study included 18 children with diagnosed epilepsy and positive family history of epilepsy, hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology in the years 2007-2009. Apart from thorough pregnancy and delivery history, brain imaging examinations (MR, CT) and inter seizure EEG recording were performed. RESULTS: Positive family history of epilepsy was found in children at the age range from 1 month to 11 years. In the examined group predomination of older children (over 2 years of age) and girls (10/18) was observed. Epilepsy with generalized seizures was found in majority of patients from examined group. The siblings of the patients were the most often affected with the epilepsy. CONCLUSIONS: Positive family history of epilepsy in children with epilepsy is almost always associated with occurrence of generalized seizures. Even in twins different types of seizures may occur, which may result from structural brain lesions in one of them. In research of familial occurrence of epilepsy repetitive history taking and complementation is needed.

[Course of gelastic epilepsy in a boy with non operated hypothalamic hamartoma]. / Przebieg padaczki z napadami smiechu u dziecka z nie leczonym chirurgicznie hamartoma podwzgórza.

BACKGROUND: Gelastic epilepsy is usually symptomatic and most often associated with hypothalamic hamartoma. Usually, in the course of this epilepsy different seizure types develop, partial and generalized as well. Moreover, progressive behavioral disorders are observed. Pharmacological treatment is usually ineffective and surgical resection of the lesion is the only chance of clinical improvement. AIM OF THE STUDY: Presentation of the experience from 5-year observation of the patient with gelastic epilepsy and hypothalamic hamartoma and comparison of this observation with previously reported in the literature with special attention to modern surgical treatment techniques. MATERIAL AND METHODS: 6-year-old boy with gelastic epilepsy diagnosed in September 2004 at the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology. Clinical, neuroimaging and neurophysiological techniques were used. RESULTS: The boy was admitted to the Department because of the attacks of inadequate laughter, aggression and hyperactivity, treated unsuccessfully in the out-patient clinic. On the basis of clinical manifestation and results of MR of the brain, diagnosis of gelastic epilepsy with associated hypothalamic hamrtoma was established. During next 5 years the patient remained under constant multispecialistic care (neurological, neurosurgical, endocrinological, psychological). Laughter attacks were accompanied by complex partial seizures and temporarily by generalized tonic seizures as a result of wrong response to pharmacological therapy. Despite of treatment modification with the use of mono and polytherapy the complete control of the seizures was not achieved only partial reduction. Behavioral improvement was also not achieved. The risk of the operation of the lesion was to high due to its size and location and the boy was not qualified for surgical treatment. Analysis of the literature concerning the surgical treatment in the patients with drug resistant gelastic epilepsy and hypothalamic hamartoma indicates the need of further studies in this area to establish qualification criteria for each type of surgical technique in order to minimize the risk of operative complications. CONCLUSIONS: Diagnosis of gelastic epilepsy is often delayed due to untypical character of the seizures, treated as non-epileptic behavioral disorders. Drug resistance in this type of epilepsy cause search of better and better surgical techniques and establishment of criteria enabling to choose optimal method for every patient.

[Structural CNS abnormalities responsible for coincidental occurrence of endocrine disorders, epilepsy and psychoneurologic disorders in children and adolescents]. / Strukturalne zmiany OUN odpowiedzialne za wspólwystepowanie zaburzen endokrynologicznych oraz padaczki i zaburzen psychoneurologicznych u dzieci i mlodziezy.

BACKGROUND: In the population of children and adolescents, epilepsy affects 0.5-1% of individuals; approximately 3% of general population suffer from non-epileptic seizures, while endocrine disorders are several times more frequent. All of the above factors result in a relatively common non-accidental occurrence of endocrine disorders, epilepsy and neuropsychiatric disorders. However, structural central nervous system (CNS) abnormalities that cause both endocrine and neurologic disorders seem to be markedly less common. No reports addressing this problem are available in the literature. AIM OF THE STUDY: 1) Assessment of the frequency of non-coincidental occurrence of epilepsy and endocrine disorders in inpatients and outpatients with structural CSN abnormalities managed in Department Endocrinology. 2) Presentation of diagnostic and therapeutic difficulties in these patients, and 3) An attempt at defining a common etiology of both disorders. MATERIAL AND METHODS: A retrospective analysis of the medical records of the patients with coincidence of endocrine disorders and epilepsy and psycho-neurologic disorders (treated in Chair and Department of Children's and Adolescents Neurology, University Children's Hospital of Krakow or in another pediatric neurology center) and with organic CNS abnormalities (treated or followed up as inpatients and outpatient of Department of Pediatric Surgery, Children's University Hospital of Krakow, was performed. The patients were selected from among several thousands of children treated as inpatients and outpatients of the Department. RESULTS: Various forms of symptomatic and idiopathic epilepsy and other psychoneurological disorders (disorders of behavior and emotions, obsession-compulsion syndromes, stereotypias, aggression, compulsive ideas and movements, anorexia or hypothalamic obesity) coincident with one or more endocrine disorders such as precocious or delayed puberty, multihormonal pituitary deficiency, panhypopituitarism and secondary hypothyroidism were detected in 42 patients with suprasellar arachnoid cyst (7 patients), septo-optic dysplasia (8 patients), craniopharyngioma (15 patients), glioma of the optic chiasm in neurofibromatosis type 1 (NF-1) (12 patients). There were no endocrine disorders in any of the ten patients with hamartoma of the hypothalamus and CPP. Endocrine and/ or neurological disorders did not resolve or were progressive after neurosurgery. Of 42 patients, a group of seven children representative for individual disorders was selected. In those patients, the etiology of both endocrine disorders, epilepsy and neuropsychiatric disorders was suspected to be common. CONCLUSION: 1. Various structural CNS abnormalities are the cause of concomitant epilepsy and endocrinopathy, although in some cases a direct impact of a genetic factor on the occurrence of both disorders or a mere coincidence cannot be ruled out. 2. Psychoneurological disorders usually precede the onset of endocrinopathy. 3. For this reason, MR or CT CNS imaging should be performed in any case of central neurological disorders, disorders of behavior, epilepsy, obsessive-compulsive syndrome, but also in patients with delayed psycho-motor development, delayed or accelerated growth and pubertal development. All of the above-mentioned manifestations may be symptoms of structural CNS abnormalities and their early treatment determines the child's future.