Slovo úvodem

Prof. MUDr. Ivan Rektor, CSc.

Neurol. praxi. 2022;23(2):103 | DOI: 10.36290/neu.2022.021  

Liečiteľné vzácne extrapyramídové ochorenia

MUDr. Ján Necpál

Neurol. praxi. 2022;23(2):107 | DOI: 10.36290/neu.2021.081  

Treatable inherited metabolic disorders with extrapyramidal manifestation in children

doc. MUDr. Miriam Kolníková, PhD., MUDr. Dominika Kovárová, MUDr. Patrícia Balážová, MUDr. Silvia Radová

Neurol. praxi. 2022;23(2):108-112 | DOI: 10.36290/neu.2021.082  

Inherited metabolic disorders are often manifested by movement disorders that are more or less expressed in the clinical presentation. They can be hyperkinetic: dystonia, chorea, athetosis, myoclonus, tremor stereotypies or hypokinetic: hypokinetic-rigid syndrome. Diagnosis of these diseases is often very difficult, because of the fact that the same movement disorder can be caused by various diseases. To our current knowledge, more than two hundred inherited metabolic disorders associated with movement disorders have been registered so far. In half of these diseases two or more symptoms are present, the most common of which are ataxia and dystonia....

Treatable CNS disorders with brain metal accumulation

MUDr. Petr Dušek

Neurol. praxi. 2022;23(2):115-119 | DOI: 10.36290/neu.2021.084  

Some neurological diseases caused by accumulation of iron in CNS are treatable. If the initiation of treatment is early, neurological symptoms may be reversibile. The best results are achieved when the treatment is started before the manifestation of neuro­logical symptoms. In this chapter we summarize the clinical features, diagnosis and treatment strategies in treatable diseases with the accumulation of copper (Wilson's disease), calcium (hypoparathyroidism), manganese (SLC30A10 and SLC39A14 transporter deficiency) and iron (aceruloplasminaemia).

GLUT1-deficiency syndrome

MUDr. Ján Necpál, MUDr. Bibiána Jeleňová

Neurol. praxi. 2022;23(2):120-123 | DOI: 10.36290/neu.2021.076  

GLUT1-deficiency syndrome is a rare neurometabolic brain disorder caused by disruption of glucose transport across the blood-brain barrier. As brain almost completely depends on glucose supply as the main source of energy, and the GLUT-1 represents the main transporter of glucose across the blood-brain barrier, the classic form of the disease manifests by severe consequences of neuroglycopenia: early neurodevelopmental encephalopathy with seizures, acquired microcephaly, cognitive deficit and various persistent or paroxysmal motor (often complex in nature) features such as ataxia, spasticity or dystonia. The evidence of low glucose cerebrospinal fluid...

Treatable lysosomal storage disorders with movement disorder manifestations

MUDr. Alexandra Lacková, doc. MUDr. Matej Škorvánek, PhD.

Neurol. praxi. 2022;23(2):124-131 | DOI: 10.36290/neu.2022.022  

Lysosomal storage disorders are a group of inherited metabolic disorders caused by mutations in genes encoding soluble lysosomal hydrolases, leading to the progressive accumulation of undegraded macromolecules in vital organs and tissues. Phenotypically, these disorders are characterised by a wide range of clinical symptoms with a combination of visceral, ocular, haematological, skeletal and neurological manifestations, with involvement of the extrapyramidal system being particularly common. Significant progress has been made in the treatment of these diseases in recent years, focusing on various innovative therapeutic approaches. The aim of this review...

Benign fasciculation syndrome

MUDr. Petr Ridzoň

Neurol. praxi. 2022;23(2):133-136 | DOI: 10.36290/neu.2021.075  

Fasciculations are one of the uncommon but potentially serious neurological symptoms and can occur in a variety of neurological and other diseases or conditions. They can arise for many different reasons: from metabolic-endocrine (calcium and magnesium metabolism disorder, hyperthyroidism), through drug side effects (succinylcholine, depolarizing muscle relaxants, acetylcholin inhibitors, salbutamol) to serious neurological diseases (ALS/MND, neuropathy, root syndromes, borreliosis). They are often the result of increased neuromuscular irritability during excessive use of stimulants (caffeine, tein) or increased anxiety, or after sudden physical overload....

The significance of correct algorithm of the diagnostics and treatment of migraine in the prophylactic treatment against calcitonin gene-related peptide

MUDr. Rudolf Kotas, Ph.D., MUDr. Ondřej Slach, MUDr. František Jelínek, MUDr. Jolana Mračková, Ph.D.

Neurol. praxi. 2022;23(2):138-145 | DOI: 10.36290/neu.2022.018  

The paper describes the algorithm of the diagnostics and treatment of migraine which in indicated cases will lead to the initiation of modern prophylactic treatment directed against calcitonin gene-related peptide (anti-CGRP therapy). At first it is necessary to perform the correct differential diagnosis of migraine attacks from other acute primary or secondary headaches. In the next part the algorithm of the treatment of migraine is described. In few frequent uncomplicated migraine attacks the care of general practitioner is sufficient who should except prescription of acute antimigraine drugs actively follow the frequency of attacks and consumption...

Fingolimod treatment of multiple sclerosis at any age

doc. MUDr. Radomír Taláb, CSc., MUDr. Marika Talábová

Neurol. praxi. 2022;23(2):146-154 | DOI: 10.36290/neu.2021.045  

Fingolimod was approved in Europe until the 2^nd line of treatment for relapsing multiple sclerosis in children and adult patients. It is also recommended in the first line for a highly active form of multiple sclerosis. The results of phase 2, phase 3 (TRANSFORMS, FREEDOMS) and phase 3b (LONGTERMS) clinical trials are presented, which evaluate longitudinal efficacy, safety and MR data of fingolimod in real clinical practice. The fundamental benefit of long-term collection of clinical data from real clinical practice is highlighted, which complemented data on the efficacy and safety of fingolimod and the reduction of the most common adverse...

Autistic patient in a (paediatric) neurologist's practice

MUDr. Alena Zumrová, Ph.D.

Neurol. praxi. 2022;23(2):155-160 | DOI: 10.36290/neu.2021.001  

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 comorbidity obscured by autistic symptomatology. The diverse diagnoses that can cause autistic symptoms in a patient are documented by three entirely different case reports from...

Sentinel lesion and significance of rebiopsy: a case of primary CNS lymphoma

MUDr. Dominik Drobisz, MUDr. Petr Skalický, MUDr. Adam Pavličko, prof. MUDr. Radoslav Matěj, Ph.D., MUDr. Kateřina Benešová, CSc., prof. MUDr. David Netuka, Ph.D., doc. MUDr. Robert Rusina, Ph.D.

Neurol. praxi. 2022;23(2):161-165 | DOI: 10.36290/neu.2020.052  

We show a case study of a 72-years old woman who firstly presented with left side brachiofacial paresis, dysarthria and headache. MR brain scan revealed a lesion in right frontal lobe with radiological findings typical for a brain lymphoma. Biopsy of this lesion was diagnostically inconclusive with unspecific inflammatory changes. MR scan performed after the biopsy showed substantial regression of the firstly found lesion and 2 new lesions, with similar radiological characteristics as the one which regressed, each one in a different hemisphere. We therefore present a case of a sentinel lesion. In our case no corticoid therapy was given before the surgery....

A long way to a right diagnosis

MUDr. Iveta Koščová, MUDr. Zuzana Gregová, MUDr. Miloslav Dvorák, PhD.

Neurol. praxi. 2022;23(2):166-170 | DOI: 10.36290/neu.2020.102  

We present a case report of a 64-year-old patient with cervical myelopathy who was transferred to our department from the Department of Neurosurgery for appearance of left-sided internuclear ophthalmoplegia and facial palsy. The following MR of the brain excluded a possible stroke. Laboratory samplings and lumbar punctures performed repeatedly during hospitalization together with paraclinic examinations, which helped us to reach out the final diagnosis of neuroborreliosis.

Uncommon association of two anatomical variants of cerebral circulation: fetal-type posterior cerebral artery and Percheron artery as the cause of paramedian thalamomesencephalic stroke

MUDr. Milan Maretta, MUDr. Norbert Leško, prof. MUDr. Zuzana Gdovinová, CSc., FESO, FEAN

Neurol. praxi. 2022;23(2):171-173 | DOI: 10.36290/neu.2020.080  

Paramedian bilateral thalamic ischemia often leads to different clinical presentation, the differential diagnosis of which includes several possible causes. The major features are unconsciousness, hypersomnia, ocular and neuropsychiatric disorders. In addition to the clinical manifestations, neuroradiological findings can also lead to diagnosis. Thrombosis of so-called Percheron artery is presumed cause. In this case report we would like to present a patient with clinical and radiological diagnosis of bilateral paramedian thalamic stroke due to thrombosis of Percheron artery in coincidence with an anatomical vascular anomaly of the posterior cerebral...

Hemostyptika u pacientů s rupturou aneuryzmatu
ANO!

MUDr. Jan Vinklárek, prof. MUDr. Robert Mikulík, Ph.D.

Neurol. praxi. 2022;23(2):174-175 | DOI: 10.36290/neu.2022.024  

Hemostyptika u pacientů s rupturou aneuryzmatu
NE!

doc. MUDr. Aleš Hejčl, Ph.D., prof. MUDr. Martin Sameš, CSc.

Neurol. praxi. 2022;23(2):176-178 | DOI: 10.36290/neu.2022.025