[en] Purulent infections of the central nervous system belong to life-threatening diseases. Their incidence is relatively low; however, their importance lies in high case fatality ratio and frequent permanent sequelae. The prognosis depends on a number of factors, most notably the speed of diagnosis and the initiation of correct causal and supportive treatment. Therefore, it is necessary to educate physicians of all disciplines about the importance and approach to these infections. Purulent meningitis is an infection of the soft meninges caused by pyogenic bacteria. Despite declining incidence over the last 20 years and medical progress, due to its high case fatality ratio and permanent sequelae meningitis remains a major challenge for physicians and scientists. (author)

[en] Brain imaging methods have a major clinical benefit not only for identifying potentially treatable causes or determining the vascular aetiology of dementia, but also for the differential diagnosis of neuro degenerative diseases, especially Alzheimer's disease (AN), frontotemporal dementia (FTD) and dementia with Lewy bodies (DLB) that are characterized by different patterns of brain atrophy. Visual rating scales that allow to quantify the degree of atrophy of individual brain areas have been developed for this purpose. They thus represent a useful tool for the early and differential diagnosis of neuro degenerative diseases in clinical practice. This article summarizes current knowledge about the diagnosis of AN, FTD and DLB using visual rating scales and based on this knowledge offers recommendations for clinical practice. (author)

[en] Severe brain injuries are characterized with high morbidity and mortality. Only 40 % of the patients end the therapy with favourable outcome. The bad outcome is caused by the severity of primary brain insult. However, the therapy should be focused on an elimination of secondary – ischemic damage, resulting from the high ICP. The use of multimodal monitoring is an important part of the therapy. ICP monitoring remains the fundamental method, on the other hand, there are several promising methods, like tissue oximetry and microdialysis, which can improve the treatment result. These methods are more focused on a brain metabolism. More detailed and complex information from brain tissue facilitate right time adequate therapy which is believed to avoid ischemic brain damage. (author)

[en] Autism spectrum disorders (ASDs) are manifested in the area of social interactions, communication, and behaviour. The diagnosis of autism is to be made by an experienced psychologist or psychiatrist who has had long expertise in this field, using a specialized psychological-psychiatric testing which involves at least two standardized methods. However, every ASD patient should undergo comprehensive evaluation in order to ascertain either the aetiology of the symptoms or the co morbidity obscured by autistic symptomatology. The diverse diagnoses that can cause autistic symptoms in a patient are documented by three entirely different case reports from the practice. ses that can cause autistic symptoms in a patient are documented by three entirely different case reports from the practice. (author)

[en] Diffuse idiopathic skeletal hyperostosis is a non-inflammatory degenerative disease affecting the axial skeleton by calcifications and progressive hyperostosis of anterior and posterior longitudinal ligaments. The disease also affects the peripheral insertions on the shoulders, elbows, pelvic region, knees and heels. In coincidence with rheumatoid arthritis is the disease able to ameliorate its destructive outcomes. In addition to the affected bone and ligaments of spine may be present extraosseal findings such as dysphagia, dysphonia and neurological complications. Of these especially pain in the thoracolumbar spine, stiffness and limitation of mobility, as well as radicular syndrome, myelopathy, thoracic outlet and vertebral fractures. DISH is associated with the metabolic syndrome and its treatment requires in addition to the analgesics, non-steroidal anti-inflammatory drugs, COX-2 inhibitors and myorelaxants, also rehabilitation, physiotherapy and balneotherapy. (author)

[en] Meningioangiomatosis is a rare, benign lesion characterized by focal vascular and cellular proliferation of leptomeninges and adjacent cortex. Sporadic form of this disease may manifest by epileptic seizures. We present literature review on intractable epilepsy caused by sporadic form of meningioangiomatosis. (author)

[en] Care for patients with Alzheimer's disease (AD) and other cognitive disorders has been fragmented in the Czech Republic and unevenly and inadequately accessible in different regions. Neurologists, psychiatrists, geriatricians and general practitioners are involved in treatment. The aim of the implementation of the National Action Plan for AD and Similar Diseases 2020-2030 (NAPAN), approved by the Government of the Czech Republic, is to establish a single recommended approach for the diagnosis and treatment of patients with AD and similar diseases, so that the patient always receives good comprehensive care, regardless of the consulted specialist and the concerned region. These recommended practices include also an effort to define the system of care, to define the role and set up cooperation between the various specialties and to create a network of care ensuring the availability of all the above-mentioned specialties and specialized centers for management of AD patients. (author)

[en] Dravet syndrome (DS) is predominantly caused by a mutation in the sodium channel subunit (SCN1A). It begins in childhood but is a lifelong condition. In this article, we focus on the characteristics of adult patients with DS. From an epileptological perspective, the occurrence of epileptic seizures is crucial. In adulthood, there are mainly clonic seizures (generalized tonic-clonic seizures, tonic seizures or focal seizures to bilateral tonic-clonic seizures). They can be provoked by increased body temperature or by emotions. However, parents/caregivers of patients with DS often report other manifestations of the disease as very significant, often more limiting than the seizures themselves. These primarily include cognitive difficulties, learning disorders, behavioral issues, motor problems (crouch gait, parkinsonism, ataxia, abnormal postures while standing and walking), sleep disorders, and cardiac abnormalities. There is also a high risk of sudden unexpected death in epilepsy (SUDEP) in DS. The second part of the article is dedicated to therapy. Currently, there are recommendations for patients with DS. The first line of therapy includes valproate and clobazam. The second line involves specific drugs indicated for this syndrome, specifically stiripentol (Diacomit), fenfluramine (Fintepla), and cannabidiol (CBD, available in the Czech Republic as Epidyolex). (author)

[en] Alcohol dependency syndrome is common in the Czech population. Neurologists encounter these patients during inpatient and outpatient care. One of the frequent health problems is the occurrence of epileptic seizures. People addicted to alcohol may have some type of epilepsy as well. The aim of the review article is to specify whether these are acute symptomatic seizures or clinical manifestation of epilepsy as a chronic disease and how to approach them in treatment. The therapy of withdrawal and addiction syndrome is briefly mentioned. Chronic administration of antiepileptic drugs is indicated in alcoholics in the case of diagnosed epilepsy and in the treatment of dependency. Following acute symptomatic seizures, the long term administration of antiepileptic drugs is not warranted. (author)

[en] Adult form of Pompe disease is a rare inherited autosomal recessive metabolic disorder caused by deficiency of lysosomal acid α -glucosidase activity. It is characterised by the accumulation of glycogen in muscle tissue that leads to progressive muscle weakness – myopathy. The clinical hallmark of adult-onset Pompe disease is slowly progressive myopathy. However, adult forms present themselves with certain phenotypic diversity which causes difficulties in diagnosing and diagnostic pitfalls. The course of adult Pompe form disease was usually progressive, disabling and often fatal. There was no treatment for Pompe disease until the end of 20th century. The recent development in enzymatic replacement therapy with recombinant α-glucosidase has dramatically improved the life expectancy and quality of life with improvements of muscle motor and muscle respiratory functions. EMA and FDA confirmed in 2006 indication for enzymatic replacement therapy in all 3 Pompe disease forms – infantile, juvenile and adult. The best results are achieved in patients with Pompe disease diagnosed in early stages. Late diagnosis in advanced stages deprives the benefits of enzymatic replacement therapy with significant impact on patients´ prognosis. Therefore, early diagnosis of adult Pompe disease is of crucial importance. Several studies in 21st century confirmed that the sooner you begin with enzymatic replacement therapy, the bigger is the probability of improving the clinical symptoms of the disease. Dried blood spot test provides a rapid and reliable screening method for determination of α-glucosidase deficiency. Slovak Republic joined this screening programme in 2009. Before 2009 there was no patient with adult Pompe disease form diagnosed in SR. After 2009 we diagnosed with dried spot test adult Pompe disease in 10 patients. The diagnosis was definitively confirmed by measurement of decreased enzyme activity in leukocytes, and by DNA testing with verification of pathogenic mutations in gene for α-glucosidase. For its rare occurrence adult Pompe disease form is an under diagnosed disease. Adult form is also characterised by heterogeneity of muscle symptoms causing diagnostic pitfalls. All 10 patients with adult form were initially diagnosed with false diagnoses. The average time between initial disease symptoms and correct diagnosis statement of Pompe diseases was 7.1 years (2–14 years). We report in our paper several essential errors which delayed the determination of correct diagnosis and early prescription of enzymatic replacement therapy. We also present a rare case-report of 63-year-old female with diaphragm respiration disorder as first clinical manifestation of adult form of Pompe disease. (author)