Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother. LHON causes frequent inherited blindness typically appearing during young adult life whose expression can be triggered by additional factors such as smoking or alcohol exposure. We speculate the effects of KRT10 and LHON mutations influence each other-skin inflammatory reaction due to severe ichthyosis might trigger the development of psychoneurological abnormalities whereas the mitochondrial mutation may reduce revertant mosaicism phenomenon resulting in the lack of confetti-like spots characteristic for IWC. However, based on a single case we should be cautious about attributing phenotypes to digenic mechanisms without functional data.

[The function of autonomic nervous system during paroxysmal events in children and adolescents, and available diagnostic methods]. / Czynnosc autonomicznego ukladu nerwowego w stanach napadowych u dzieci i mlodziezy i mozliwosci jej oceny.

UNLABELLED: The aims of the study was to establish current knowledge regarding the involvement of autonomic nervous system (ANS) in paroxysmal disorders in children and available diagnostic tools. MATERIAL AND METHODS: Using key words ANS, epilepsy, syncope and breath-holding spells the search was performed in collections of Elsevier and Springer Journals, as well as MEDLINE/PubMed. RESULTS: Manifestation of ANS dysfunction may constitute the group of leading symptoms and signs of many diseases, including epilepsy with autonomic attacks and familial dysautonomia. It may however comprise a clinical spectrum coexisting with motor or sensory symptoms and pain. Methods to help diagnose ANS dysfunction at clinical level and to establish its role in pathomechanism diseases include tools analyzing cardiorespiratory changes, especially heart rate variability, during the rest and after functional stimulation, such as orthostatic challenge, Valsalva maneuver and deep breathing as well as methods measuring directly ANS activity, including conduction in autonomic fibers. CONCLUSIONS: Autonomic nervous system participates in several paroxysmal disorders in children, and maturation of its central structures may influence the course of disease, depending of the child's age. Symptoms of ANS dysregulation may warning as for life threatening conditions, so they should be included as a part of medical history and physical examination. The awareness of connections between ANS and all internal organs is a basis of several additional tests.

[Results of autonomic testing in children with migraine with aura, including visual and sensory]. / Wyniki oceny funkcji autonomicznych u dzieci z migrena z aura wzrokowa i czuciowa.

BACKGROUND: Despite the signs of involvement of autonomic nervous system (ANS) in the pathomechanism of migraine, the significance of its dysfunction was not fully explained. One of parameters serving to establish a balance of both ANS parts is relation of low frequency (LF) to high frequency (HF) heart rate variability (HRV), LF/ HF ratio. HF reflects parasympathetic activity, whereas LF both sympathetic and parasympathetic as well as respiratory rhythm. AIMS: The aims of the study was to establish LF and HF ratio in children with migraine with aura, during rest, passive tilting and also during active standing. Prospective research, approved by Bioethical Commission of Jagiellonian University, Nr KBET/188/B/2011. MATERIAL AND METHODS: The examination was performed in 47 children with migraine with aura during headache-free period (within 31 girls and 16 boys, mean age 14 years) and in 32 children without headaches and syncope (19 female and 13 male volunteers), constituting an age-matched control group. HRV was evaluated during rest, during a 10-min 70 degrees head-up passive tilting and during 3-min active standing test, using Task Force Monitor 3030i/3040i. RESULTS: In all 47 children with migraine with aura head-up tilt test was negative for syncope, however in 4 children (8.5%), postural orthostatic tachycardia syndrome was diagnosed (all of them from a group of 24 children with migraine with sensory aura). In 2 children from the control group head-up tilt-induced syncope (6%), reflecting false positive result (in one of children the second neurocardiogenic syncope occurred). Results of LF/HF ratio did not differ between groups with migraine with aura and controls significantly, whereas they were higher in group of 24 children with migraine with sensory aura during passive tilting. Active standing did not reveal differences of LFIHF ratio between any groups. CONCLUSIONS: Predominance of sympathetic nervous system activity during passive head-up tilt test, as well as more common postural orthostatic tachycardia syndrome in patients with migraine with sensory aura as compared with children with migraine with visual aura and healthy volunteers indicate differential autonomic reactivity. False positive result of passive tilting in healthy children may suggest a higher risk of syncope recurrence. In spite of poor orthostatic tolerance reported by patients with migraine, active standing did not reveal differences between migraine patients and healthy volunteers.

[Cerebral blood flow during neurocardiogenic syncopes in children]. / Przeplyw mózgowy krwi w omdleniach neurokardiogennych u dzieci.

BACKGROUND: Neurocardiogenic syncope, the most common episodic event in children results from global cerebral hypoperfusion. Monitoring of the blood flow during head-up tilt-induced syncope resulted in registration of preferential reduction of end-diastolic velocities in middle cerebral arteries (MCA). The significance of those changes was however not explained. The aim of this retrospective research was to establish the significance of visual inspection of spectra changes of cerebral blood flow in MCA during presyncope and syncope in children. MATERIAL AND METHODS: The diagnostic head-up tilt test (TT) was conducted in 276 children with neurocardiogenic syncopes. The group consisted of 211 girls and 65 boys aged 8 to 18 years (mean age 14 years). 30 healthy volunteers were enrolled as a control group. During rest in supine position and during tilting upright to 70 degree at the tilt table, the blood flow was monitored in MCA using Nicolet Companion III in order to perform transcranial Doppler ultrasonography. RESULTS: During passive TT symptoms of syncope were observed in 31 girls and 10 boys after 3 to 30 min (mean 13.7 min) of tilting, and mild presyncopal signs in other 9 children. The most typical change of the blood flow in MCA registered during vasovagal syncope was a preferential decrease of end-diastolic velocities. In one patient two TT were performed, both examinations were positive, however during the second TT wave reflection during early diastole in MCA was registered. In one child from the control group result of TT was false positive, with the same pattern of blood flow spectra, as in children from the syncope group. During hyperventilation the reduction of velocities of the blood flow in MCA was detected, mainly diastolic. CONCLUSIONS: The registration of reduced velocities of the blood flow in middle cerebral arteries during diastole may allow to earlier termination of tilting in order to prevent a loss of consciousness. One of important prophylactic actions related to syncope is to counteract hyperventilation. The pattern of high resistance spectrum of blood flow in MCA, with a backward direction of early diastolic flow during syncope may suggest that wave reflection may play a significant role.

[Latent tetany in child, electrophysiologico-clinical study]. / Dziecko z tezyczka utajona, studium kliniczno-neurofizjologiczne.

Tetany is the abnormal state of increased neuromuscular excitability. It is manifested with muscle cramps and spasms, usually associated with abnormal calcium metabolism. This state can be devided into two main types: tetany with clinical manifestaton (hypocalcemic) and occurred more frequently latent tetany (normocalcemic). In this study was presented the case of a child with electrophysiological and clinical manifestation of latent tetany. We report a case of a female patient who was admitted to the Pediatric Neurology Department in the year 2015. Some clinical, biochemical and neurophysiological results have been analyzed.

Schizencephaly-diagnostics and clinical dilemmas.

BACKGROUND: Schizencephaly is an uncommon congenital disorder of cerebral cortical development. The defect is characterized by the presence of a cleft in the brain extending from the surface of the pia mater to the cerebral ventricles. The margins of the cleft are lined with heterotropic, dysplastic gray matter. The causes of schizencephaly are heterogeneous and can include teratogens, prenatal infection, maternal trauma, or EMX2 mutations. METHOD: In the present paper, the authors described difficulties in employing diagnostic imaging in differentiating between type II (open-lip) schizencephaly and much more common intracranial fluid spaces of a different origin (arachnoid cysts and hydrocephalus). RESULT: In all the three cases, the treatment consisted in implantation of a shunt system; nevertheless, it should be emphasized that a surgical intervention in the third presented case (type II schizencephaly) aimed at relieving the symptoms of intracranial hypertension-a directly life-threatening condition-since shunting is not a method of treating schizencephaly itself. CONCLUSIONS: Although proper interpretation of the character of intracranial fluid spaces is of significance for further therapeutic management, yet, the key decision as to the surgical intervention is made based on clinical presentation, predominantly on symptoms of intracranial hypertension.

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.

[Familial case of oral-facial-digital syndrome type 1 (OFD 1)]. / Rodzinny przypadek zespolu ustno-twarzowo-palcowego typu 1 (OFD 1).

UNLABELLED: Ciliopathies are phenotypically and genetically heterogeneous disorders that share ciliary dysfunction as a common pathological mechanism. Ciliary dysfunction results in a broad range of malformations including renal, hepatic and pancreatic cysts, visceral abnormalities, retinal degeneration, anosmia, cerebellar or other brain anomalies, polydactyly, bronchiectasis and infertility. The paper presents a familial case of oral-facial-digital syndrome type 1 in 14 year old girl suspected to polycystic kidney disease. CONCLUSIONS: Molecular testing in daughters of known OFD1 mutation carriers and mothers of affected daughters seems to be reasonable. Not each case of policystic kidney disease which looks like autosomal dominant policystic kiedney disease is actually the above disease. The insight into the pathogenesis of ciliopathies is mandatory for understanding these combined congenital anomaly syndromes of seemingly unrelated symptoms of hepatorenal and pancreatic fibrocystic disease. Close interdisciplinary approach is mandatory in terms of efficient and reliable diagnostic and therapeutic interventions in patients presenting with ciliopathies.

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.

[The relationship between bioelectrical activity and cerebral blood flow]. / Relacje miedzy czynnoscia, bioelektryczna a przeplywem mózgowym krwi.

BACKGROUND: It is widely accepted that neuronal activation leads to a fast localized increase in cerebral blood flow. In the analyzed studies researchers demonstrated findings, aimed to better understanding of neurovascular coupling. Practical consequences are of great importance. AIM: Analysis of data from literature on relationship between clinical events, bioelectrical activation and changes of cerebral blood flow during epileptic attacks, syncope and migraine. METHODS: The systematic review of papers publishing results of experimental and clinical studies considering electroencephalography and functional examinations as well. RESULTS: The most common clinical indication for vascular tests was the presurgical evaluation to localize epileptogenic lesion area in patients with refractory epilepsy. Results of hemodynamic examinations were in agreement with videoEEG. The methods used to establish spatial and temporal changes of cerebral blood flow resulted from focal neuronal activation were: MRI, xenon/CT, PET (positron emission tomography) and SPECT (single photon emission computed tomography). The functional method used in patients with migraine and epilepsy was transcranial cerebrovascular ultrasound (TCD), useful also for monitoring of cerebral blood flow during provoked at the tilt table neurocardiogenic syncope. The method allowing demonstration of ictal and interictal hemo-dynamic changes during bioelectrical discharges as well as during different epileptic attacks was near infrared spectrometry (NIRS), a non-invasive technique of monitoring of tissue oxygenation. CONCLUSIONS: The vascular examinations performed with parallel registration of cerebral bioelectrical activity contribute to understanding of pathomechanism of attacks. They also have a practical significance, especially to localize an epileptogenic lesion and the diagnosis of migraine with aura.

[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.

[Arachnoid cysts and epilepsy in children]. / Torbiel pajeczynówki a padaczka u dzieci.

BACKGROUND: At neurodevelopment age arachnoid cysts (ac) are commonly found by accident in neuroimaging examinations performed in the process of differential diagnostics of different diseases, including epilepsy. They are neurodevelopmental disorders which usually develop in the fetal life. Ac are usually supratentorial, less often subtentorial and sporadically interstellar. They are often the only structural lesions of the brain found in the child with epilepsy. There is still lack of univocal statement whether presence of ac determines type of seizures and focal paroxysmal changes in EEG recording. AIM OF THE STUDY: Estimation the association between cyst localization and changes in bioelectric activity in inter seizure EEG recording and type of epileptic seizures observed in children with ac. MATERIAL AND METHODS: Analysis included 14 children out of 35 with found pineal cyst hospitalized in the Department of Pediatric Neurology Chair of Pediatric and Adolescent Neurology in Krakow, in the years 2007-2009. There were 4 girls and 10 boys at the age range from 1 month to 14 years. On the basis of clinical symptoms and EEG results diagnosis of epilepsy was established. RESULTS: Pc were usually localized in the temporal region and posterior cranial fossa and had characteristics of single lesions. In minority of children they were co-occurring with other brain development disorders. In children with pc generalized and polymorphic seizures were dominating and in EEG recording generalized paroxysmal changes. CONCLUSIONS: No association between presence and localization of pc and type of epileptic seizures and characteristics of changes in inter seizure EEG recording was found.

[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.

[The influence of child's behaviour on the course of neurological diagnosis]. / Wplyw zachowania dziecka na przebieg diagnozy neurologicznej.

INTRODUCTION: Among the huge amount of neurological diseases that cause diagnostic difficulties, there happens, from time to time an additional difficulty--disorders of psychogenic origin, and among those- conversion disorders. Until now there still is no satisfactionary explanation for the neurobiological basis of conversion. The explanations offered by psychology are also rather general, based on the tradition of psychoanalysis. Aside from how deeply one understands its mechanisms, when suspecting a psychogenic origin of the symptoms observed, one should be especially careful. It is far too easy falling in the trap, that hysteria sets for us, suggesting to be the patient's one and only disease that should be dealt with. AIM OF THE STUDY: To show the difficulties and dangers when making a diagnosis of functional disorders, both from the physician's and psychologist's point of view. MATERIAL AND METHODS: Presenting cases of 6 patients, whose behaviour and symptom presentation suggested a psychogenic background of the disorders, and only few of the psychological tests' results differentiated between the organic and the psychogenic group. RESULTS: In the presented group there were 3 children diagnosed with conversion disorder, and 3 diagnosed with neurological diseases. The psychological test results only partly differentiated between both groups, not allowing any interpretation to be based on quantitative results only. CONCLUSIONS: 1. Even though medicine has made such a huge step forward, conversion disorders can still cause serious diagnostic difficulties. 2. Leaving our knowledge about human mind aside, we are continously eager to base our judgement on the most vivid elements, that present to us most clearly. 3. That line of thinking puts us in jeopardy of missing the obvious: that a histerical person can also suffer from another condition of a very organic origin.

[Value of the experiment for developmental neurology]. / Znaczenie eksperymentu dla poznania zagadnien neurologii wieku rozwojowego.

Some neurological diseases cannot be at present efficiently treated, because of their unknown pathogenesis and the lack of appropriate drugs. The etiology of autism is not known and there is no drug for ameliorating basal symptoms of this disease. Some research was conducted to obtain an adequate rodent model of autism in which potential drugs can be studied. Therapeutic action of psychostimulant drugs in the attention deficit hyperactivity disorder (ADHD) are known for years, but because of their addictive properties, decision about their clinical use in a child is not easy. The precise recognition of their mechanism of action and determination of the maximal but safe doses should facilitate making the correct decision. Only about 70% children suffering from epilepsy are efficiently treated with one drug, while in the remaining the use of two or more drugs is necessary, which increases the the risk of side effects. Clinically more effective classical antiepileptic drugs can disturb cognitive functions in the child, therefore, on the basis of the present knowledge the experiments are under way with the aim of receiving drugs with strong anticonvulsant properties but without serious side effects. The introduction of efficient neuroprotective drugs, which may ameliorate secondary neuronal cell damage in various brain regions to the therapy is the main aim of numerous experimental works. At present it seems that neurotrophic factors can be useful but they must be administered centrally. Transplantations of transfected cells capable of producing neurotrophic factors or stem cells to the brain may be in the future an efficient method for improving brain function.

[Causes and diagnostics of dizziness of central origin in children]. / Przyczyny i diagnostyka zawrotów glowy pochodzenia osrodkowego u dzieci.

Dizziness and vertigo are symptoms caused by several etiological factors, they are result of general diseases, within anemia. They are associated with several diseases of the organ of hearing and balance, which are under laryngological care, and one of most important tests to distinguish vertigo of central and peripheral origin is videonystagmography. Several diseases of the central nervous system cause instability of posture and gait. Psychogenic feeling of being insecure and unsafe makes the diagnostics more complicated. Vertigo of central origin in children can be a first symptom of severe conditions, such as tumor of CNS, therefore the neuroradiological evaluation is necessary for early diagnosis, before the occurrence of increase of intracranial pressure symptoms. Vascular diseases, such as vertebro-basilar insufficiency or stroke are diagnosed more common in adults, still they are not excluded in children, and therefore vascular evaluation is necessary. The cerebrovascular ultrasound is a method significant in the diagnostics as well as in the monitoring of therapy of cerebral vascular diseases. The elecrophysiological evaluation, EEG or videoEEG is useful in the evaluation of paroxysmal conditions. Evoked potentials are helpful in diagnostics of demyelination of CNC. The serological tests (within to detect boreliosis) are infrequently performed; they may lead to correct diagnosis and causal treatment. The paper presents examples of diagnostic methods valid in children with dizziness of central origin.

[The causes of symptomatic epilepsy in children aged 3-18 years hospitalized in the year 2006-2007]. / Przyczyny padaczki objawowej u dzieci w wieku 3-18 lat hospitalizowanych w latach 2006-2007.

BACKGROUND: Epilepsy can be one of symptoms of the damage to CNS in children with neurodevelopmental deficits, it is more difficult however to diagnose seizures if they are the first symptom of severe brain damage. THE AIM: This retrospective research was conducted to study causes of symptomatic epilepsy in children aged 3-18 year hospitalized between 2006 and 2007 year in the Department of Pediatric Neurology. MATERIAL AND METHODS: 156 children with symptomatic epilepsy occurred after 2 years of life were included. The diagnosis of symptomatic epilepsy was established including clinical picture, neuro-radiological tests and EEG. The information from parents was helpful to analyze the type of seizures. The clinical state of children was analyzed, especially psychomotor development, focal deficits, as well as results of CT and/or MRI, in some children psychological testing was performed, molecular or serological. RESULTS: 156 children with epilepsy were hospitalized, within encephalopathy was diagnosed in 61 children. In 42 children static encephalopathy was associated with birth trauma, in 7 progressive encephalopathy was diagnosed, in 1 child CO intoxication caused encephalopathy, and in 11 cases the cause was not identified. Malformations of nervous system were associated with epilepsy in 37 children, geneticaly determined syndromes in 6, and the head trauma in other 6 children. Disorders of vascular origin caused epilepsy in 16 children, and neuroinfections in 9 children. In 2 children epilepsy was associated with ADEM, and in 11 children nonspecific de/dysmyelination was detected. The brain tumor was detected in 6 children with symptomatic epilepsy. CONCLUSIONS: The most common disorder leading to epilepsy in children aged 3-18 years was encephalopathy, within hypoxic-ischemic encephalopathy. The other in sequence were malformations of nervous system and vascular diseases.

[Assessment of cerebral blood flow after visual stimulation in children with a migraine and chronic tension-type headache--preliminary reports]. / Ocena przeplywu mózgowego po stymulacji swietlnej u dzieci z migrena i przewleklymi bólami glowy typu napieciowego--wyniki wstepne.

BACKGROUND: Transcranial Doppler enables dynamic assessment of cerebral blood flow and is particular important in migraine, associated with impaired vasoreactivity. Majority of studies revealed disturbed mechanisms of autoregulation in patients with migraine with aura in predominance. Visual aura and increased photosensitivity in migraine patients suggest disorders of visual pathway and visually evoked potentials (VEP) enable to detect even subclinical pathologic changes in its course. AIM OF THE STUDY: Aim of the study was evaluation of cerebral blood flow in middle cerebral arteries in response to visual stimulation and analysis of VEP values in children with primary headaches. MATERIAL AND METHODS: 15 children were included, aged 8-18 years, hospitalized at Pediatric Neurology Department of Jagiellonian University in the first 5 months of year 2008 with headaches. Children with secondary headaches were excluded. 8 patients were with migraine with aura, 1 with migraine without aura, 3 with hemicrania epileptica and 3 with chronic tension-type headaches. Cerebral blood flow was measured in middle cerebral arteries during headache-free period with Transcranial Doppler Nicolet/EME Companion III. Evaluated parameters were: systolic velocity, end-diastolic velocity, mean velocity and indexies: pulsatility (Gosling's index) and resistive (Pourcelot's index). VEP were recorded during visual stimulation with black and white checkerboard pattern reversal with Keypoint/Medtronic-Dantec. Latencies N75, P100, N135 and amplitudes N75/P100, P100/N135 were examined. RESULTS: Values of cerebral blood flow velocities increased over 10 cm/s in response to visual stimulation in 6 patients (2 with migraine with aura, 2 with hemicrania epileptica, 1 with migraine without aura, 1 with chronic tension-type headaches). In 5 of these patients amplitudes N75/PIOO and in 2 patients also P100/N135 over 20 mV were recorded. In 4 patients with migraine with aura with amplitudes N75/P100 or also P100/N135 over 20 mV, significant changes in cerebral blood flow were never observed. CONCLUSIONS: Simultaneous recording of cerebrovascular response to visual stimulation and VEP revealed increase of cerebral blood flow velocity over 10 cml s in 6/15 patients and in 5 of them also amplitudes N75/ P100 or also P100/N145 over 20 mV were recorded. However, analysis of the results did not allow to identify characteristic changes for each type of headache. In order to establish the role of doppler examination in childhood migraine diagnostics further study in this area is needed.