Idiosyncratic adverse effects account for only a small portion of all adverse effects of antiepileptic drugs. They are of significance particularly because some of them may be life-threatening for the patient. The review article provides basic information on the most common idiosyncratic adverse effects of antiepileptic drugs.

Hyperkinetic disorder (HKD) or Attention Deficit Hyperactivity Disorder (ADHD) is considered to be a neurodevelopmental disease and also in its diagnostic criteria the onset is postulated before the age of seven. In 40–50 % of patients the symptoms persist into the adulthood. In the case the disease is not diagnosed and tretaed properly in time, the patient is exposed to the sustained stress and pressure and secondary somatic complaints and comorbidities may occur.

Guidelines for diagnosis and therapy of Alzheimer´s disease provides an evidence based review of the literature. Scientific papers are assessed according to levels of evidence, where I means the most convincing and IV means the weakest evidence. There was provided a recommendation of level A – efficient, B – probably efficient and C – possibly efficient, based on the levels of evidence. Presented guidelines revise previous recommendations published in 2007. New biomarkers of Alzheimer´s disease are discussed, especially examination of cerebrospinal fluid, magnetic resonance and other imaging methods, as well as new neuropsychological instruments. In the pharmacological section, there are critically evaluated many substances lacking sufficient evidence of its efficacy, but still used in the Czech Republic.

Prion diseases are caused by proteinous infectious particles, which are very resistant to usual sterilization procedures. The most current is Creutzfeldt-Jakob disease. Its diagnosis is based on clinical findings (rapidly progressive dementia, pyramidal or extrapyramidal involvement, myoclonus, visuo-spatial impairment and akinetic mutism) and positive 14–3–3 protein in CSF and/or periodic activity on EEG. MRI hyperintensities in FLAIR and diffusion weighted images in subcortical structures (putamen and caudate) and in some cortical areas, are currently being added to new WHO diagnostic criteria. Early recognition of a prion disease is crucial for the patient and his family, mainly in case of genetic forms of diseases. Since causal therapy is inexistent, many futile investigations including invasive procedures can be avoided and adequate palliative care can be introduced.

Authors review the topic of idiopatic intracranial hypertension or pseudotumor cerebri from an ophthalmologist‘s point of view. Thus the article can not serve as a complete rewiew of the disease. The suspicion is often made by an ophthalmologist according to typical signs, especially papilledema. Neurological examination finds no patology, normal findings of imaging techniques are also typical. Etiology and pathogenesis still remains unclear. Therapy, if started early enough, can in most cases effectively prevent a visual loss. Authors add brief case reports.

The goal of this article is to inform readers about the treatment options for severe spasticity and dystonia in children with cerebral palsy by intrathecal baclofen (ITB). Cerebral palsy plays serious role in life of spastic child and his/her family. ITB is in position of trusted method, which improves quality of life of spastic child with or without dystonia and so quality of life of his/her parents. Reduction of spasticity leads to marked reduction of pain. This article presents basic indication criteria for ITB as well as basic information about baclofen test, implantation method, refill procedure and summarizes complications of ITB therapy.

Delirium is an acute, life-threatening condition requiring a timely diagnosis, a timely differential diagnosis to distinguish it from similar life-threatening conditions and a timely treatment. Delirium tremens is among the leading causes of death among those with a psychiatric diagnosis; however, the risk of delirium complications is still underestimated. The treatment of milder, uncomplicated deliria is feasible in conventional detoxification centres or at psychiatric wards through collaboration between a psychiatrist and an internist. The treatment of severe deliria and deliria in patients with serious somatic complications comes within the competence of an intensive care unit where continuous monitoring and artificial ventilation are possible and auxiliary diagnostic methods are available.

Neuropathy of the ulnar nerve at the elbow is only second to carpal tunnel syndrome as the most common cause of upper extremity mononeuropathies encountered by an outpatient neurologist and an electromyographer in their practice. In clinical electromyography, a number of motor and sensory conduction studies and needle electromyography are used to diagnose this mononeuropathy. Segment study of motor conduction across the elbow (inching) is a less-commonly used technique due to the demands for execution and interpretation. However, this examination is essential because of accurate localization of the injury and may be beneficial in the case of a negative result of conventional neurography in clinically highly suspected neuropathy. The result of an examination using this method is useful for a neurologist, physiotherapist and surgeon. The aim of the article is to provide an overview of this neurographic technique for electromyographic practice.

Huntington´s disease (HD) is a well-defined autosomal dominant neurodegenerative disease. It is caused by CAG repeat expansions in huntingtin gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL) or HD phenocopies. The aim of our work is to review these HDL. We studied existing resources and further we describe these syndromes, including HDL1, HDL2, and HDL4 (SCA17), and also (because of phenotypic overlap) dentatorubral-pallidoluysian atrophy, Friedreich‘s ataxia, neuroferritinopathy and neuroacanthocytosis.We also bring our proposal for diagnostic process, to diagnose the most frequent syndromes. However, current worldwide research shows, that major number of patients with HDL phenotype remain without final diagnosis. This suggests that other genes or gene modifiers may exist, where the mutation can cause the syndrome with clinical features similar to HD.

Learning disabilities condue to a failure of acquirement of such abilities as reading, writing, and computing. They are usually revealed during childhood at the age when we start attending school, because pupils at this age much more experience requirements during this developmental stage that discloses this disabilities. Some of the traits are evident in preschool age and lead us to thinking about the risk of persisting to adolescence. In case of insufficient school support the disabilities last till adulthood and usually are the reason for achieving lower level of education and professional status than could be expected due to intellect capacity (Law et al., 2009). Many and frequent failures in this field can secondary lead to conduct, and affective disorder, and even to social maladaptation. In this article we will focus on particular functional deficits, which are prerequisites of learning disabilities manifestation and some of the used neuropsychological models.

Chronic low back pain (CBBP) is a common symptom affecting around 10 % of adult population in Western societies. Neuropathic component is common, affecting around 1/3 of CBBP patients. It consists of local neuropathic pain within the degenerated intervertebral disc and surrounding soft tissues as well as radicular pain which is caused by local nerve root compression, swelling or inflamation. Clinical manifestation of neuropathic low back pain depends on affected nerve structures. Compression of nerve root or ventral rami of spinal nerve usually causes sciatica. Symptoms of local neuropathic pain vary from latent trigger points or segmental tenderness (myofascial pain syndrome) to abnormal skin sensations within the low back area. Presence of neuropathic pain has important impact upon analgetic treatment, first line non-steroid antiflogistics (NSA) are effective in nociceptive pain only and does not have significant effect on neuropathic component. Adjunct of tricyclic antidepressants, 3rd generation anticonvulsants such as pregabaline or gabapentine or local anesthetic/steroid blocks can be beneficial in patients who do not respond to NSA in monotherapy. Non-pharmacotherapeutical procedures – manipulation techniques, back school, physical therapy, accupuncture or psychotherapy are no less effective therapeutic approaches, that can be used for complex treatment of chronic low back pain.

Paragangliomas are benign neuroepithelial tumours typically localized in glomus caroticum and jugulare. Their spinal localization is very rare, entirely in the area of cauda equina and filum terminale. We present a case report of 33-year old woman. Her initial symptom was low back pain irradiating into lower limbs without neurological deficit. Magnetic resonance showed tumour expansion filling the whole spinal canal in the range from L4 to S1. Peroperatively we found a well circumscribed intramural tumour which clearly originated from filum terminale interconnected by a vascular pedicle. The tumour was radically resected. The histopathological and imunohistochemical exam classified the tumour as paraganglioma. Six months after the surgery the magnetic resonance is without any evidence of the tumour recurence. The general analysis of the available literature concerning paraganglioma of cauda equina and filum terminale is present in the discussion.

We present a case of aged married couple with generalized myasthenia gravis (MG). Clinical diagnosis was supported by EMG findings and evidence of antibody production against acetylcholin receptors. Myasthenia gravis clinically manifested several weeks after vaccination against influenza and subsequent viral infection with fever in both patients. The failure of immune tolerance and the development of organ-specific autoimmune disease emerged in polymorbid individuals. We assume that both patients developed MG on the ground of pre-existing disorders of the immune system (hypothyroidism). Iatrogenic (immunization) or viral infection resulted in the stimulation of the immune defense response which led to the deregulation of immune tolerance and clinical manifestations of MG. Noticeable is the close relation between the immunization, viral infection and development of the symptoms in both individuals.

Although somewhat neglected and out of the main focus of recent medical literature, drug-induced cognitive impairments are a serious issue. The present paper aims to provide an overview of pharmaceuticals with potential risks of inducing cognitive impairments. Pharmaceuticals with anticholinergic effects and benzodiazepines are associated with the greatest risk. It is always appropriate to consider possible drug interactions and other risks resulting from the biological and metabolic status of a particular patient. Medications may interfere with cognition indirectly by affecting metabolism, such as in hypoglycaemia or drug-induced hyponatraemia; by inducing hypotension and hypoperfusion of the CNS; and by activities that may interfere with synaptic transmission.

The congenital myopathies are defined by distinctive morphologic abnormalities in skeletal muscle. Over the past decade there have been major advances in uncovering the genetic basis of many congenital myopathy subtypes. Identification of the disease genes, in combination with better understanding of the molecular mechanisms is now providing insights into disease pathogenesis. It further provides basis for the development of new procedures and, for the first time, it suggests avenues for the development of specific therapies.

We have disease modifying drugs (DMDs – interferon beta, glatiramer acetate) for the treatement of multiple sclerosis (MS) for 15 years in Czech Republic. Only 30 % of patients are full responders to this treatment, in the rest the effect is insufficient or partial.The only possibility for treatment escalation until 2008 was mitoxantrone (with only transient effect and serious adverse events). Since 2008 we can use the first monoclonal antibody in neurology, natalizumab, with doubled clinical efficacy in comparison with classical DMDs. Natalizumab has brought the concept of „freedom of disease activity“. New drugs which are currently in registration process (fingolimod) or finished their phase III program (cladribine, teriflunomide, laquinimod, fumarate) will offer higher efficacy or convenience for patients but will demand more knowledge about their mechanism of action and risks, their prevention, diagnosis and management. The same is true for new monoclonal antibodies (alemtuzumab, anti-CD 20, daclizumab). Informed consent and evaluation of compliance will be part of the treatment of well-educated patients. The main concern being the early diagnosis using the new criteria and early treatment. will be the most important factors changing the prognosis of MS patients. anti-CD 20, daclizumab.

According to Health Organization (WHO) adherence is defined as the extent to which the patients behaviour – taking medication, following a diet, and/or executing lifestyle changes – corresponds with agreed recommendations from a healthcare provider. High level of adherence is necessary in the treatment of chronic diseases. Following article deals with adherence in the treatment of multiple sclerosis, especially focusing on the disease modifying drugs of first choice, that are all injections, and need to be taken long term and regularly. Some methods, how to measure adherence are discussed, as well as factors leading to non-adherence and some recommendations how to increase adherence. It is necessary to support adherence all the time in everyday clinical practice. Increasing the effectiveness of adherence interventions may have a far greater impact on the health of the population than any improvement in specific medical treatments.

Amyloidosis is a group of diseases characterized by deposition of amyloid in tissues. Hereditary amyloidosis with defect of transthyretin is a disease with deposition of deficient protein transthyretin. Polyneuropathy, vitritis, kardiomyopathy, gastrointestinal disorder with malabsorbtion, hepatomegaly are dominant in the clinical picture. A liver transplantation is the most effective therapy, because the place of synthesis of deficient protein is removed. I present the case of a woman suffering from this disease and describe the way, how her diagnosis has been proved.

Epilepsy is one of the most common neurologic disease. Despite the improvement of the neuroimaging methods several structural pathologies (especially malformations of the cortical development – MCD), which are in the clear-cut causation of disease, do not have to be detected by classical CT or MRI examination. Because visual evaluation of MRI remains difficult to detect some subtle abnormalities, several neuroimaging approaches, methods and modalities have been established to improve detection and localization of MCD. These methods are called in expert literature as a MRI postprocessing. (Jackson at al., 2010). This specific approaches enable to detect the morphological changes of brain structure not detected by visually inspections of MRI scans and due to their superior contribution in the determination of MCD, they might be the indivisible part of a presurgical evaluation of brain.

Congenital muscular dystrophies are genetic muscle diseases. They present with early hypotonia and muscle weakness. The muscle biopsy is characterized by dystrophic or myopathic changes. There are several subtypes of congenital muscular dystrophy. The vast majority of the diagnoses are confirmed by molecular testing or by immunohistochemistry. Treatment is symptomatic, interdisciplinary. Genetic counselling should be available for teenagers and families.

A 39-year-old female patient was admitted to our department for traumatic compression fracture of the Th9 vertebral body. The clinical finding as well as MRI finding favoured percutaneous kyphoplasty. A rare complication – cement leakage into the soft paravertebral tissues – occurred during this procedure. Because of the declared properties of the implanted material, particularly the biodegradability of bone cement, observation of the patient was carried out. Over the course of days, progressive back pain and difficult breathing occurred. Imaging methods revealed progressive pleuropulmonary changes. A circumscribed inflammatory focus and pleural effusion with subsequent respiratory insufficiency developed. The patient was indicated for abscess evacuation, extirpation of the cement from the osseous tissue and subsequent thoracic drainage. However, the patient’s condition continued to deteriorate as did the imaging finding and a second revision was necessary which involved pulmonary lobe decortication. Following this procedure, the further clinical course was favourable. thoracotomy.

Early recognition of the dementia syndrome is the most important part in the diagnostics of Alzheimer‘s disease. It is followed by determination of Alzheimer‘s disease as the most likely cause of it. A clinical transitional state between the normal ageing and dementia is referred to as mild cognitive impairment. The auxiliary diagnostic methods are not only used to rule out other causes of dementia, but they can directly support the diagnosis of Alzheimer‘s disease. The clinical trials have proved that current drugs slow the progression of the disease. We can use acetylcholinesterase inhibitors for treatment of mild to moderate Alzheimer‘s disease, whereas severe stages of the disease are treated by memantin – NMDA receptor partial antagonist.

The article deals with the causal association between cerebral palsy (CP) and peri-/neonatal morbidity. CP is the most common and significant motor impairment in childhood. Prevalence ranges from 1,7–2,1/1 000 live births, and increases with decreasing birth weight and gestational age. The etiology is multifactorial, including prenatal, peri- and neonatal factors. Diagnosis is mainly clinical, special exams and tests are under consideration for the uncertain history and nonspecific clinical manifestations. Imaging methods will help establish a brain lesion and its topography. CP often combines with other deficits (i. e. mental, epilepsy, sensory, speech etc.). Its classification is based both on the assessment of the tone with dominating physical abnormalities and functional disability. Causal treatment is not possible, so preventive strategies focus mainly on reducing prematurity, fetal growth retardation, perinatal hypoxia and infections.

Seizure freedom is one of the main goals of therapy in epilepsy patients as it is associated with significant quality of life improvement. There is still no consensual definition of seizure remission regarding the period of its duration. For patients, long-life remission is definitely the most acceptable. The way how to reach seizure freedom starts with initial monotherapy with adequately chosen antiepileptic drug. Most of the patients but not all are responding to moderate or even modest dosing, in some higher or maximal dosing is necessary to reach the full benefit. In initial monotherapy failure the further step is alternative monotherapy or polytherapy. Though monotherapy is tradionally viewed as a gold standard, both approaches should be considered in individual patient. In certain cases adding another drug may be less risky than the trial of converting from one monotherapy to another, mainly in patients with frequent or severe seizures. Monitoring and assessment of adverse effects of therapy is an inevitable part of epilepsy treatment as these can strongly influence the quality of life. Polytherapy seems to carry a higher risk of adverse effects however with new mechanism of action of modern drugs and with individual tailoring of drug dosing the adverse effects are comparable to monotherapy.

Spontaneous spinal epidural hematoma is a rare clinical entity. It represents less than 1 % of all lesions located in the epidural space of the spinal canal. Our case report describes 63-year-old patient admitted for a suddenly incurred intense neck pain and paresthesia in the right upper limb with progression to severe right spasic hemiparesis. The magnetic resonance showed epidurally located mass in the area C3–4, dorsal to the spinal cord with its significant compression. We urgently evacuated the expansion. No possible cause of hematoma was discovered during the surgery and the histopathological exam disclosed only parts of hematoma. Four years after the surgery the patient is self sufficient with slight spastic monoparesis of the right lower limb. The magnetic resonance shows appropriate width of the spinal canal in the primarily affected area.

Excessive daytime sleepiness (EDS) is defined as the inability to stay awake and alert during the usual awake period of the day with unintended episodes of drowsiness and/or sleep. EDS increases the risk of accidents and errors and may also be a symptom of serious underlying disease. Diagnosis is based on patient history and paraclinical examinations, particularly polysomnography. If possible, the treatment of EDS consists in removing the cause. When causal treatment is not possible or sufficiently effective, it is advisable to use psychostimulants. Most psychostimulants enhance the activity of the adrenergic system in the CNS.