Upstream Stimulating Factor 1 (USF-1) Gene Polymorphisms and the Risk, Symptoms, and Outcome of Pediatric Ischemic Stroke.

BACKGROUND: Pediatric ischemic stroke is an important cause of morbidity and mortality. As previous studies of children after stroke showed, dyslipidemias were very common in Polish and other European populations. Thus, looking for genetic factors predisposing to pediatric stroke, its symptoms, and outcome, we have analyzed 2 polymorphisms of the upstream stimulating factor 1 (USF-1) gene. MATERIALS AND METHODS: The study group consisted of 82 children with stroke, 156 parents, and 146 controls. We used 2 alternative methods: the case-control model and the analysis of families using the transmission disequilibrium test. The 2 polymorphisms, rs2516839 and rs3737787, were genotyped using the TaqMan Pre-Designed SNP Genotyping Assay. The Statistica 10.0 software was used in all statistical analyses. RESULTS: We did not observe any statistical differences in genotype and allele frequencies between patients and controls. There were also no significant differences in the transmission of alleles from the parents to the affected children. However, we have observed that the TT genotype of the rs2516839 polymorphism was more common in patients with epilepsy and dysarthria, whereas the TT genotype of the rs3737787 polymorphism was more frequent in the group of patients with a decrease in intellectual functioning. CONCLUSIONS: Our study did not show any associations between the 2 analyzed polymorphisms of the USF-1 gene and pediatric ischemic stroke. However, we have observed an influence of specific genotypes on the outcome of stroke, including epilepsy, dysarthria, and a decrease in intellectual functioning.

The rs10757278 Polymorphism of the 9p21.3 Locus in Children with Arterial Ischemic Stroke: A Family-Based and Case-Control Study.

BACKGROUND: The association of 9p21.3 locus single nucleotide polymorphisms with arterial ischemic stroke in adults was demonstrated in many studies, but there are no studies in pediatric arterial ischemic stroke patients. We investigated whether the 9p21.3 locus polymorphism, namely rs10757278, is associated with the arterial ischemic stroke risk in children. METHODS: The study group consisted of 335 individuals: 80 children with arterial ischemic stroke, their biological parents (n = 122), and 133 children (age and sex matched) without any symptoms of arterial ischemic stroke as a control group. The rs10757278 polymorphism was genotyped using the TaqMan® Pre-designed SNP Genotyping Assay (Applied Biosystems). Two different study design models were used: family-based association test (transmission-disequilibrium test) and case-control model. RESULTS: There were no statistically significant differences in the distribution of genotypes and alleles of the rs10757278 polymorphism between groups of children with arterial ischemic stroke and controls. The frequency of both transmitted alleles in transmission-disequilibrium test analysis was identical (50%). The A allele carrier state (AA+AG genotype) was more frequent in arterial ischemic stroke children with hemiparesis than in patients without this symptom (94.5% versus 68.0%, P = .004). CONCLUSIONS: There is no evidence to consider the 9p21.3 locus polymorphism as a risk factor for childhood arterial ischemic stroke.

A case report of an adolescent with cluster headaches following neck trauma: Coincidence or trigger?

Posttraumatic headaches usually have tension-type or migraine-like characteristics. A correlation between head trauma and cluster headaches (CH) has been previously reported. CH in children are rare and require thorough differential diagnosis. We present an original case of a 15-year-old boy with cluster headaches associated with allodynia probably evoked by a neck trauma. Severe headache attacks started one month after neck trauma. At the beginning clinical presentation of our patient's headaches was very misleading. Headaches were bilateral and associated with infection. Initial diagnosis of sinusitis was made. During further observation headaches have become unilateral with typical for CH associated symptoms and additionally with allodynia. Other causes of secondary CH like cervicogenic headaches, brain tumor and vascular malformation have been excluded. The boy has undergone prophylactic treatment based on flunarizine and gabapentin with good result. Possible pathogenesis of our patient's headaches has been proposed and diagnostic traps discussed.

[A short history of pediatric neurology in Jagiellonian University]. / Krótka historia neurologii dzieciecej w Uniwersytecie Jagiellonskim.

The author reminded preclinical years and the work of children's neu- rologists at that time. And next he de- scribed the work of people which from creating the Department of Pediatric Neurology in 1996 created structures of the Department, its 6 Laboratories and the Outpatients Clinic. From 2008 the Department was a part a Chair of Pediatric and Adolescent Neurology, from here the Author also checked teaching and scientific activity of the Chair, the Department, and 2 academic Laboratories of the Neurophysiology and the Clinical Electrophysiology. He pointed at effective efforts for financed research projects.

[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.

[Neurophysiological methods in evaliuation of neurorehabiltation in children]. / Przeslanki neuroelektrofizjologiczne dla rehabilitacji neurologicznej dzieci.

The authors reviewed neurophysiological methods, which are used in the evaluation of children referred for neurorehabilitation. Rehabilitation techniques which may stimulate or provoke pathological changes in EEG must be ruled out. Electrophysiological and clinical improvement allow for the extension and intensification of rehabilitation. Normal EEG pattern ensures the safe use of techniques consisting of neuromuscular re-education or passive verticalisation, electrotherapy and thermotherapy. Quantitative and qualitative assessment of cognitive impairment is based on neuropsychological tests and endogenous evoked potentials (most often P300). Presence of cognitive dysfunction needs the use of neuropsychological and neurologopedic therapy. Based on results of exogenous evoked potentials appropriate neurorehabilitation program (physiotherapy, kinezytherapy) can be determined and clinical outcome predicted. EMG allows appropriate usage of applications, patterns and principles in the PNF method (such as compression, stretching, resistance), adapting them optimally to the possibility of a child. ENG estimates conduction in motor and sensory nerves. Based on the results nerve impairment can be localized, severity and character of damage estimated (demyelinating, axonal or complex) and course of the disease and treatment monitored. Short characteristics of 37 children with Guillain-Barre syndrome referred for rehabilitation was presented. Special attention was drawn to floppy infants. Results of neuroelectrophysiological examinations determine suitable rehabilitation program adjusted to the course of central nervous system impairment.

[P300 potential in chldren with psychogenic nonepileptic events and tension headache]. / Potencjal P300 u dzieci z napadami rzekomopadaczkowymi i napieciowymi bólami glowy.

INTRODUCTION: Psychotherapy is being used as the primary treatment in nonepileptic psychogenic seizures and tension headaches in children. Children's intelectual functioning is related to certain endogenous neurophysiological parameters. AIM: The goal of this study was to establish whether the endogenous potential P300 is different in children with nonepileptic psychogenic events and with tension headaches, and whether it changes under the influence of the cognitive-behavioral psychotherapy. MATERIAL AND METHODS: The study included a group of 47 children: 20 with nonepileptic psychogenic seizures (18 girls and 2 boys), aged 11.09-17.11 years, and 27 children with tension headache (25 girls and 2 boys), aged 10.11-17.11 years. The P300 potential was induced using an auditory stimulus. The reaction time, the amount of mistakes and the percentage of attention focus was measured in all children. All children attended 8-10 psychotherapy sessions. The P300 potential was registered before and after the course of therapy, and additionally in both cycles also after a 3 minutes hyperventilation. RESULTS: Medium P300 parameters were closer to normal in the group of children with tension headaches rather than in the group with nonepileptic seizures. The shorter was the reaction time in the first measurement, the higher the attention score and the shorter the reaction time in the second measurement - this was visible in the results of children with nonepileptic seizures, in contrast to children with tension headaches. The use of hyperventilation caused a noticeable extension of the reaction time in the P300 measurement, with other components unchanged (mistake count and percentage of attention focus). CONCLUSION: The endogenous potential P300 does vary, although on a statistically insignificant level, in groups of children with tension headaches and nonepileptic seizures.

[The influence of cognitive-behavioral therapy on the P300 potential in children with psychogenic nonepileptic seizures and tension headache]. / Wplyw terapii poznawczo-behawioralnej na potencjal P300 u dzieci z napadami rzekomopadaczkowymi i napieciowymi bólami glowy.

UNLABELLED: Explaining associations between neurophysiological and neuropsychological parameteres in children and improving the measurement methods would lead to a better understanding of the pathogenesis and course of psychosomatic disease. Goal: clinical assessment of the efficacy of cognitive-behavioral therapy in the treatment of psychogenic no- nepileptic seizures and tension type headaches in children. Determining the influence of cognitive behavioral therapy on the cognitive P300 potential and whether P300 parameters in children correlate with neuropsychological parameters. MATERIAL AND METHODS: 20 children with nonepileptic psychogenic seizures and 30 children with tension type headaches, aged 11.3 - 17.11 years. The final diagnosis was made in the Paediatric Neurology Clinic. The P300 examination was performed before/after therapy, with/without hyperventilation. A fixed structure therapy was implemented (10 sessions, 90 minutes each), during two weeks of hospitalization or in an outpatient clinic (9 children with tension type headache). The psychological assessment comprised of temperament questionnaires, auditory and visual memory trials, executive function and attention trials, and in some cases also intelligence testing. RESULTS: More significant correlations were found in children with psychogenic seizures: attention parameters correlated negatively with reaction time, and this correlation tended to fade in the second examination, after psychotherapy. In children with tension type headache a statistically insignificant tendency was found of a positive correlation between those parameters. Medium P300 parameteres in this group were better. In 17/20 of children with psychogenic seizures a clinical improvement was observed, in 3 children the symptoms persisted in a 6 month follow up, but of a lower frequency. In 11/27 of chil- dren with tension headache the symptoms persisted, also with a lower frequency. CONCLUSION: cognitive-behavioral therapy is effective in the reduction of symptoms in many cases of psychogenic seizures and chronic tension type headache.

[Bell's palsy in malopolska's children in 2010-2014 years]. / Porazenie obwodowe nerwu twarzowego u dzieci w Malopolsce w latach 2010-2014.

BACKGROUND: Peripheral facial nerve palsy (Bell' palsy, BP) is a not rare diseases in children, being the most common acquired mononeuropathy. AIM: The authors of this study wanted to determine whether the occurrence and course of paralysis changed in the past 5 years (2010-2014). MATERIALS AND METHODS: The study involved Lesser Poland region, where the majority of children with paralysis are hospitalized at the Pediatric Neurology Department of University Children's Hospital in Krakow. These children in subsequent years were admitted to our department without any limitations. A review of clinical documentation of 125 patients, in terms of demographics, the coexistence of other diseases, seasonality, the degree of paralysis, location of paralysis, the prevalence of the recurrence was made. Changes in the structure of the nerve VII in MRI and CT, pharmacological treatment, applied rehabilitation, the degree of improvement and time of hospitalization were analyzed. RESULTS: Similar distribution of occurrence and gender of children with BP in Lesser Poland region within 5 years were observed. The predominance of the girls resulted from demographic composition of the population. BP occurred most frequently in summer and winter. In more than half of children BP occurred in the course of acute systemic infection or craniofacial infection and in 5/125 BP followed head injury. Children with infections required antibiotic therapy. Left-sided paralysis was found in the majority of children and almost half of patients needed protection of the cornea of the eye (significant degree). In 12% of children structural changes within the facial nerve were found. In these children antiviral treatment was used and hospitalization time was more than 20 days while in the majority of children hospitalization lasted 15 days. In 8 (6.4%) children with recurrent BP kinezytherapy, electrical stimulation and laser therapy were applied. Steroid therapy was not used. Only 7/125 chil. dren had mild impairment of the eye closing at the discharge and the others received nearly complete recovery. CONCLUSIONS: Inflammatory etiology is the most common in children with BP. BP occurs more often in the summer and winter. Severity of paralysis was significant in more than half of hospitalized children. Children with structural changes within the nerve VII required longer hospitalization and comprehensive treatment.

[The links between neuropsychology and neurophysiology]. / Zwiazki miedzy neuropsychologia a neurofizjologia.

AIM: The aim of the study was to establish current scope of knowledge regarding associations between neurophysiological functioning, neuropsychology and psychoterapy. MATERIAL AND METHODS: A systematic review was performed including 93 publications from Science Server, which contains the collections of Elsevier, Springer Journals, SCI-Ex/ICM, MEDLINE/PubMed, and SCOPUS. The works have been selected basing on following key words: 'neuropsychology, neurocognitive correlates, electrodermal response, event related potential, EEG, pupillography, electromiography' out of papers published between 2004-2015. RESULTS: Present reports on the use of neurophysiological methods in psychology can be divided into two areas: experimental research and research of the practical use of conditioning techniques and biofeedback in the treatment of somatic disease. Among the experimental research the following have been distinguished: research based on the startle reflex, physiological reaction to novelty, stress, type/amount of cognitive load and physiological correlates of emotion; research on the neurophysiological correlates of mental disorders, mostly mood and anxiety disorders, and neurocognitive correlates: of memory, attention, learning and intelligence. Among papers regarding the use of neurophysiological methods in psychology two types are the most frequent: on the mechanisms of biofeedback, related mainly to neuro- feedback, which is a quickly expanding method of various attention and mental disorders'treatment, and also research of the use of conditioning techniques in the treatment of mental disorders, especially depression and anxiety. A special place among all the above is taken by the research on electrophysiological correlates of psychotherapy, aiming to differentiate between the efficacy of various psychotherapeutic schools (the largest amount of publications regard the efficacy of cognitive-behavioral psychotherapy) in patients of different age groups and different diagnosis.

Methylenetetrahydrofolate reductase gene A1298C polymorphism in pediatric stroke--case-control and family-based study.

Moderate hyperhomocysteinemia is one of the risk factors of pediatric stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme, which regulates homocysteine metabolism, and some polymorphisms of gene encoding this enzyme are associated with a decreased activity of the enzyme. The aim of the study was to assess an association between the A1298C polymorphism and pediatric stroke. We also evaluated a possible synergistic effect of A1298C and C677T polymorphisms of this gene. The study group consisted of 88 children after ischemic stroke, 142 of their parents and 111 controls. The A1298C polymorphism was genotyped using the restriction fragment length polymorphism method. We used 2 study designs: a case-control model and a family-based association test. The Statistica 7.1 and EpiInfo 6 softwares were used in all analyses. We did not observe any statistically significant differences either in the transmission of the A allele in the family-based test or in the frequency of the A allele in the patients group compared with the controls. We also did not notice any significant additive or synergistic effects between the A1298C and C677T polymorphisms. An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children.

Alternating hemiplegia of childhood: new diagnostic options.

A syndrome of alternating hemiplegia of childhood (AHC) is a rare disorder first presented in 1971. AHC is characterized by transient episodes of hemiplegia affecting either one or both sides of the body. Age of onset is before 18 months and the common earliest manifestations are dystonic or tonic attacks and nystagmus. Hemiplegic episodes last minutes to days and the frequency and duration tend to decrease with time. Motor and intellectual development is affected, deficits may also develop later. Epileptic seizures occur in some patients. Neuroimaging of the brain usually reveals no abnormalities. The variability of individual clinical presentations and evolution of symptoms have made diagnosis difficult. Therefore the problems of misdiagnosis could account for the low prevalence of this syndrome. This paper hopes to present actual data on AHC, especially of the results of genetic research and new diagnostic tools.

Dilatation of Virchow-Robin spaces in children hospitalized at pediatric neurology department.

BACKGROUND AND PURPOSE: Dilated Virchow-Robin spaces (dVRs) have been revealed by magnetic resonance imaging (MRI) in patients with various neurological disorders. However, their etiology and clinical importance have not been discovered yet. The aim of the study was to estimate dVRs occurrence in hospitalized children and determine dVRs localization and their association with different nervous system diseases. MATERIAL AND METHODS: Contrast-enhanced brain MRI examinations with the use of 1.5T GE device were performed in children with different diseases of nervous system, who were hospitalized at Pediatric Neurology Department, Chair of Children and Adolescent Neurology, Jagiellonian University in the years 2010-2011. The mean age of examined children was 11.58 years, and the studied group included 27 boys and 26 girls. RESULTS: Within two years, MRI examinations of the brain were performed in 1348 children and dVRs were found in 53 of them (3.93%). Among children with dVRs, 15 were diagnosed with headache (28.3%) and 18 with epilepsy (33.96%). Other diagnoses were less frequent and occurred in 37.7%. Generalized dVRs and those localized in the subcortical nuclei were most frequently found. CONCLUSIONS: Higher incidence of dVRs was found in children with headache and epilepsy. No association was found between localization of dVRs and symptomatology of different nervous system diseases except for large dVRs probably due to the pressure on the surrounding tissues.

Neurofeedback therapy in patients with non pain syndromes of chronic and paroxysmal character-literature review and own experience.

Neurofeedback has been used in treatment of many other than pain clinical syndromes. This group includes chronic as well as paroxysmal syndromes previously treated pharmacologically. However due to non satisfactory results of this treatment introduction of non-pharmacological therapy has been examined. Observations from our 9-year experience of neurofeedback therapy used in children and adult patients with epilepsy, Asperger syndrome, depression, neurosis, personality disorders, drug addiction and other (not pain) syndromes have been presented in this paper. Positive influence of neurofeedback therapy on symptoms intensity, frequency, duration and social relations of treated patients has been confirmed by our own and other authors observations. Neurofeedback therapy has been tried by patients with other difficult life problems and has been effective in some of them. The effectiveness of the therapy has been confirmed by patients, their relatives and also by neurophysiological results. Additionally, preliminary results of neurofeedback therapy used in management of computer addiction in children and adolescents have been presented herein.

Diagnostic difficulties of paroxysmal symptoms in a boy with Parry-Romberg syndrome.

Parry-Romberg syndrome is characterized by progressive unilateral facial atrophy affecting subcutaneous tissue, cartilage and bone structures. Headache attacks and epilepsy are commonly associated with this syndrome but the underlying pathophysiology is still unknown. A case of a 12-year-old boy with Parry-Romberg syndrome and syringomyelia suffering from severe headache attacks and epileptic seizures is reported herein. Headache attacks were associated with bilateral autonomic symptoms and hyperventilation and were usually followed by complex partial and sometimes by secondary generalized tonic seizures. Detailed neuroimaging examinations were performed (magnetic resonance imaging [MRI] of the head, orbits, and spinal cord, MR angiography, and MR spectroscopy of the cerebellum). The EEG pattern revealed localized discharges contralaterally to the affected side. Antiepileptic treatment with carbamazepine was instituted with minimal effect. Modification of treatment (replacement with oxcarbazepine) was successful. In the reported patient interesting correlation of headache attacks, autonomic symptoms and epileptic seizures was observed. Additionally we believe it is the first report of coincident syringomyelia and Parry-Romberg syndrome.

The C242T polymorphism of the gene encoding cytochrome b-245 alpha is not associated with paediatric ischaemic stroke: family-based and case-control study.

BACKGROUND AND PURPOSE: Reactive oxygen species play an important role in the physiology and pathology of cerebral arteries, including ischaemic stroke. The cytochrome b-245 alpha gene (CYBA) encodes cytochrome b-245 alpha light chain (p22phox peptide), a critical element of NAD(P)H oxidases, the most important source of superoxide anion in the cerebral arteries. To search for genetic factors associated with paediatric ischaemic stroke, the possible association between CYBA gene C242T polymorphism and the disease was evaluated. MATERIAL AND METHODS: The study group consisted of 238 individuals: children with ischaemic stroke (n = 70), their biological parents (n = 118) and children without any symptoms of stroke (n = 50). The C242T polymorphism was genotyped using polymerase chain reaction - restriction fragment length methodology. To evaluate the possible association between polymorphism and stroke, the transmission disequilibrium test and the case-control method were applied. RESULTS: The C242 allele was transmitted more frequently than 242T (62.2% vs. 37.8%) but observed frequencies did not differ significantly from expected (p = 0.10). There were also no significant differences in allele and genotype distribution between patients and control subjects (patients: CC - 50.0%, CT - 38.6%, TT - 11.4% vs. controls: CC - 52.0%, CT - 36.0%, TT - 12.0%). CONCLUSIONS: The study did not show that the C242T polymorphism of the CYBA gene is a risk factor of ischaemic stroke in children.

[Influence of visual stimulation on cerebral blood flow and visual evoked potentials in children with migraine with visual aura]. / Wplyw bodzca wzrokowego na przeplyw mózgowy i wzrokowe potencjaly wywolane u dzieci z migrena z aura wzrokowa.

BACKGROUND: Visual aura is the most common type of migrainous aura. It may occur as a single symptom or precede sensory or speech disturbances. Aura symptoms and order of their appearance may result from propagation of spreading depression phenomenon. Vascular disorders observed during migraine with aura attacks are probably secondary to neuronal changes. Simultaneous registration of cerebral bioelectric activation and changes evoked in cerebral circulation enables their objective estimation, detection of correlation and better understanding of migraine with aura pathogenesis. Studies with transcranial Doppler revealed impaired cerebrovascular response to various stimulations in migraine, especially migraine with aura patients. Combination of Doppler examination with registration of visual evoked potentials (VEP) enables estimation on neurovascular coupling. AIM OF THE STUDY: Estimation of cerebrovascular response to visual stimulation in migraineurs with visual aura. Examination of correlation between cerebral blood flow and VEP parameters. MATERIAL AND METHODS: 50 children at the age range 8-18 years, 8 with migraine with visual aura, 9 with visual and sensory aura, 8 with visual, sensory and dysphasic aura and 25 children from control group. Examination of cerebral blood flow parameters was performed with transcranial Doppler, with the use of continuous monitoring, enabling performance of simultaneous record. ing from vessels of both hemispheres. Systolic (SV), end-diastolic (EDV), mean (MV) velocities and pulsatility (PI) and resistive indexes (RI) were analyzed. Parameters of cerebral blood flow were recorded in middle cerebral arteries, at rest (1 measurement), during visual stimulation (2, 3 measurement) and directly after the end of the stimulation (4 measurement). Black and white checkerboard pattern rebersal was visual stimulator and during stimulation VEP were registered. N75, P100, N135 latencies and N75/P100, P100/N135 amplitudes were analyzed. Moreover correlation between visually evoked changes in cerebral blood flow (2-1 measurement) and VEP values was examined. RESULTS: Statistically significant differences in EDV and MV were found between controls and migraineurs with aura. In response to visual stimulation significant differences in cerebral blood flow velocities (SV, EDV, MV) were found and most often were observed direct after the beginning of the stimulation, however they did not differ significantly between the groups. Interactions between group and time was also not found in the following analyzed groups: migraine with visual, sensory and visual, sensory, dysphasic aura vs control, migraine with visual aura vs visual and sensory aura vs visual, sensory and dysphasic aura. Significant differences in P100 latencies and N75/P100 amplitudes were found between control and migraine with more than one aura symptom but no differences were found within migraine with aura subtypes. Moreover, in migraine with aura patients positive correlation between visually evoked changes in cerebral blood flow velocities and VEP amplitudes was detected. CONCLUSIONS: Visual stimulation has significant influence on cerebral blood flow velocities in both migraine with aura patients and controls and these changes are most often observed direct after the beginning of the stimulation. However, no differences in vascular response to visual stimulation between the groups were observed. On the other hand positive correlation between visually evoked changes in cerebral blood flow velocities and VEP amplitudes was found in migraine with aura patients suggesting increased neurovascular coupling in this group when compared with controls.

[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.