Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

Creutzfeldt–Jakob disease is a rare, progressive spongiform encephalopathy caused by infectious proteins called prions. It is characterised by rapidly progressive dementia accompanied by cerebellar, visual, extrapyramidal, and pyramidal symptoms, as well as myoclonus and mutism in later stage of the disease. The most common type is sporadic Creutzfeldt– Jakob disease, accounting for 85% of all cases. Treatment of the disease is symptomatic. An important role in making the diagnosis is attributed to the observation of the patient and electroencephalography, showing characteristic cyclical discharges. We present the case of a patient whose first symptoms were psychiatric in nature, and who was diagnosed with Creutzfeldt–Jakob disease based on careful observation, presence of myoclonus, and repeated electroencephalography examinations in which typical 1–2 seconds of sharp and slow wave discharges appeared. By presenting this case of severe progressive encephalopathy, we would like to highlight the fact that even in the age of modern diagnostic methods, electroencephalography, which has been in use for many years, may be crucial in the diagnostic process. We would also like to point out that the initial symptoms of Creutzfeldt–Jakob disease may suggest a psychiatric disorder.

The multiple sclerosis patient’s journey model in Poland – future tasks

Improvement of the diagnostic and therapeutic processes and optimal use of resources in the context of health care system specificity accelerate the diagnosis and treatment onset, as well as improve the quality of life of patients with multiple sclerosis. International experience and data from clinical practice in Poland gave rise to a number of guidelines for the needed measures, from increasing the awareness about multiple sclerosis among the society and doctors in general, through expanding outpatient medical care, to proposing a model network of healthcare centres dedicated to patients with multiple sclerosis. It was pointed out that there is a need for a network of clinics specialised in the diagnosis and treatment of multiple sclerosis (MS clinics) and centres for comprehensive diagnosis and treatment, with a higher reference level and all the competences of an MS clinic, and, at the same time, providing both consultations in difficult clinical cases and access to the most advanced diagnostic and therapeutic methods. Attention was also drawn to the need to use modern e-health tools, which should improve the diagnostic and therapeutic process, as well as tighten the coordination of care by enabling an effective exchange of information between the patient and the entire interdisciplinary team involved in the therapeutic process.

Analysis of running ability in children with cerebral palsy – a scoping literature review

Introduction: Children with cerebral palsy present with diverse mobility abnormalities which are classified at the levels of structure and function and activity according to the International Classification of Functioning, Disability and Health. The authors of most studies on independent mobility in children with cerebral palsy have focused on gait abnormalities. The aim of this literature review was to analyse the running ability in children with cerebral palsy. Methods: A scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Statement. A search of the PubMed database was performed using the terms “cerebral palsy” and “running.” Results: Children with cerebral palsy run at a lower speed compared to their healthy peers. They have a shorter stride length. The power generated by various muscle groups is different from that observed in typically developing children. This results in different kinematics and hence lower quality of running. Implementation of training focused on running as part of the rehabilitation process in children with cerebral palsy may bring positive results. Discussion: The ability of running is important not only to move quickly but also to participate in the activities of daily living performed by typically developing children. Because of that, it is advisable to incorporate elements of running training into the rehabilitation process in children with cerebral palsy, whenever possible.

Diagnosis and management in dementia – recommendations

The diagnosis of dementia and further management of patients are based on the latest recommendations developed by European and global organisations dealing with the diagnosis and standards of treatment of neurodegenerative diseases. Using useful and practical diagnostic methods, as well as the results of the latest additional tests and differential tools, a modern approach allows for a relatively quick diagnosis and implementation of recommended treatment. In addition to dementia in the course of Alzheimer’s disease, the paper presents recommendations for the diagnosis and treatment of other diseases including vascular dementia, dementia with Lewy bodies, dementia in Parkinson’s disease, frontotemporal dementia, and atypical parkinsonisms. Particular attention is given to the diagnosis of mild cognitive impairment due to Alzheimer’s disease and the possibilities of diagnosis and treatment of this phase, not only in a specialised medical practice. The article discusses the principles of procognitive pharmacological management in dementia and in the case of neuropsychiatric problems: psychotic, behavioural, and mood disorders. The importance of non-pharmacological management, primarily diet and cognitive stimulation, is also highlighted. Patient care requires close cooperation between the doctor and the caregiver, who is as important as the patient, and satisfying the caregiver’s needs is a guarantee of better care for the patient. Specifically, caregivers should be supported in handling their medical, legal, and psychological problems resulting from the burden of caring for the patient.

Magnetic stimulation in the treatment of postherpetic neuralgia – a case report

Herpes zoster (shingles) is an acute infectious viral disease that may develop in individuals who have previously had chickenpox. Unlike chickenpox, shingles is more likely to occur in adults, with the risk increasing with age. The paper presents treatment outcomes in a 63-year-old patient with severe thoracic pain persisting for 5 weeks. The treatment included 15 sessions of magnetic stimulation using a low induction variable magnetic field, performed once a day, which allowed to significantly reduce pain, as assessed using the Laitinen Pain Scale. The inclusion of magnetic stimulation as an element of comprehensive therapy also improved the patient’s quality of life, as assessed with EuroQol (a score of 25 before the therapy vs. 65 after the therapy).

Impact of post-stroke cognitive dysfunction on driving ability

The paper aims to present the current views on the impact of post-stroke cognitive deficits on driving ability, and diagnostic assessment practices in this area. Firstly, the neuropsychological consequences of stroke are briefly presented. This part focuses specifically on visuospatial and executive dysfunctions. Among those dysfunctions, unilateral neglect, especially as it is frequently associated with anosognosia, may have the greatest impact on driving ability, leading to an increased accident risk. Then, different approaches to assessing fitness to drive after stroke are presented, including on-road testing, testing with the use of simulator, and clinical assessment focusing on cognition. The role of cognitive assessment in predicting fitness to drive is described in more detail. The Clock Drawing Test is the most appropriate screening measure in this context, as it engages both visuospatial and executive functions. The Trail Making Test is the most popular working memory test in the context of drivers’ assessment, as it requires visual search and psychomotor speed. The Rey Complex Figure Test is another commonly used test. It requires visuospatial and executive functions, and may also serve as a measure of visuospatial memory. Finally, the legal aspects of the assessments are discussed with reference to the practices used in Great Britain, Belgium, Sweden, and Germany. In Poland, there are no detailed standards for post-stroke fitness-to-drive assessment.

Efficacy of cognitive-behavioural psychotherapy in the treatment of chronic fatigue in patients with multiple sclerosis – a literature review

Fatigue is one of the most common symptoms seen in patients with multiple sclerosis. Cognitive-behavioural psychotherapy can be a non-pharmacological approach for these patients. Van Kessel and Moss-Morris developed a cognitive-behavioural model to explain multiple sclerosis-related fatigue (2006). According to this model, inflammatory and demyelinating factors present in the central nervous system trigger fatigue, while cognitive interpretation, anxiety, or depressive symptoms and resting lifestyle are maintaining factors. Based on the cognitive-behavioural model of fatigue in multiple sclerosis, a protocol encompassing 8 treatment sessions was developed. For over 10 years, studies have been conducted to verify the effectiveness of cognitive-behavioural psychotherapy in the treatment of fatigue in patients with multiple sclerosis. The so far obtained results show that cognitive-behavioural psychotherapy has a moderate short-term effect on reducing fatigue, while the effect size in the long-term is small. The obtained results were undoubtedly influenced by several factors: the heterogeneity of the procedures used, the size of the research groups, and the large number of disease-related intermediary variables. Further research should be conducted to identify specific factors responsible for the effectiveness of cognitive-behavioural psychotherapy in the treatment of fatigue and to assess the long-term effects of therapy.

Ischaemic stroke caused by spontaneous unilateral carotid artery dissection in patient with connective tissue disorder

Background: Spontaneous cervical artery dissection is a major cause of ischaemic stroke in young patients. It is supposed that genetic variants associated with connective tissue disorders often lead to neurovascular complications, the management of which remains a challenge. Case presentation: A 30-year-old female was admitted to the Department of Neurology with an episode of visual disturbances, speech problems, and concomitant headache. Computed tomography angiography revealed left internal carotid artery dissection. Magnetic resonance of the brain showed cortical and subcortical acute ischaemic lesions in the left cerebral hemisphere. The patient was diagnosed with vascular Ehlers–Danlos syndrome based on the clinical course of the disease. Conservative treatment was administered with full neurological recovery. Conclusion: It is very important for clinicians to consider the coexistence of genetically determined connective tissue disorders in young patients who develop arterial dissections.