Leucodystrophies at children

Introduction   Leukodystrophies involve a diverse group of rare hereditary disorders mostly affecting the white matter of the central nervous system, which straddleses nerves and glial cells. Unfortunately, these conditions are often undervalued by doctors from various specialties. The aim of the article was to present the most common leukodystrophies occurring in children  Material and methods  A review of the most common leukodystrophies based on the available literature. We conducted a systematic literature review. We searched the PubMed and Google Scholar databases from 1997 to 2023.  Conclusions  Leukodystrophies are rare genetic diseases that often present with non-specific symptoms, which can pose diagnostic challenges. Ocular abnormalities and psychomotor delay in the early stages of life should raise suspicion. A combination of symptoms may suggest a pyramidal-extrapyramidal form of cerebral palsy. Therefore, it is crucial to include a head MRI examination in the diagnostic workup and carefully evaluate the findings, as subtle imaging changes can indicate the presence of leukodystrophies. Currently, no causal treatment for leukodystrophies has been developed. Hence, further research is needed to enable the introduction of gene therapies.

Strokes in children

Introduction and purpose  A stroke is a group of neurological symptoms that develops when blood flow to the brain is stopped suddenly. Stroke is relatively rare in the group of pediatric patients. The incidence is estimated at 2.5 cases per 100,000 children per year. Mortality is up to 4%. Long-term consequences and complications concern more than half of the patients.    Brief description of the state of knowledge  The etiopathogenesis of stroke in children is diverse. The main risk factors are congenital heart disease, vascular damage, metabolic diseases and infections. The symptoms of a stroke depend on the location and extent of the ischemic changes. In children they may initially be uncharacteristic. The most common are headaches, vomiting, convulsions, disturbed consciousness, and hemiparesis. The gold standard in cerebral ischemia imaging is brain magnetic resonance angiography (MRA). In treatment controlling vital parameters plays an important role. Treatment includes anti-aggregating and anticoagulant drugs. It is possible to transfuze blood or surgical treatment. Complications of stroke in children are diversify and depend on a lot of factors. These include movement disorders, cognitive functions impairment, tension headaches and difficulty with expression and fluency of speech.    Conclusion  A stroke is a life-threatening condition that requires immediate treatment. It can have uncharacteristic symptoms in children. Acute cerebral ischemia in children carries the risk of developing long-term, severe complications. Pediatric patients with a history of acute cerebral ischemia should be under the constant care of specialized treatment and rehabilitation centers, which will enable patients to function independently among their peers

SMA Therapy in Poland: New Hopes and Challenges

Abstract: Spinal muscular atrophy (SMA) is a genetically inherited disease whose symptoms appear in children at a fairly early age. The main cause of the disease is a mutation of the SMN1 gene, which causes the lack of production of SMN This results in the disappearance of motoneurons, which consequently leads to the disappearance of the patient's ability to move and his death. An important element of coping with the disease is its early detection in newborn screening, because the earlier we start the drug, the greater the chance that the patient will maintain motor efficiency. The article describes treatment options for children in Poland, i. e. the use of such drugs as Nusinersen, which increases the amount of SMN protein, gene therapy Onasemnogen aeparvovec, which increases the amount of SMN gene, Ridisplam, which increases the amount of SMN protein, and salbutamol, which helps patients to breathe. The article also provides information about new drug therapies for the treatment of SMA and the stage of clinical trials at which they are currently being developed. It is important to look for new solutions in the treatment of SMA. Objective: To familiarize the readers of the article with the problems of SMA treatment in Poland, as well as to broaden their knowledge of new available drugs for the treatment of this disease

The Level of Physical Fitness and Everyday Activities vs. Sensory Integration Processing Disorders in Preschool Children – Preliminary Findings

Introduction: Sensory integration processing is defined as organization and interpretation of stimuli reaching the organism. The correctly functioning nervous system interprets sensory impressions, which enables development of awareness of one’s own body and of the surrounding environment. Sensory processing disorders can have a significant impact on the child’s functioning. Aim: The objective of the research was to answer the question whether sensory integration processing disorders in preschool children have an influence on their physical fitness and everyday activities. The research covered a group of 60 preschool children. The studied group comprised 30 children with diagnosed sensory processing disorders, while the control group consisted of 30 children with no disorders diagnosed. Results: The results achieved demonstrate lower physical fitness of children from the studied group and problems with performing everyday activities. The tasks connected with speed and agility were the most problematic. Among everyday activities, the most difficult were: cycling, ball catching, getting dressed and descending stairs. Knowledge of sensory integration processing disorders helps understand problems in the child’s functioning and provides an opportunity to intervene in the form of the sensory integration therapy

A brand new medical condition - 6 years old patient with neurological symptoms diagnosed with PIMS-TS (Paediatric Inflammatory Multisystem Syndrome – Temporally Associated with SARS-CoV-2) - case report

Children's multi-system inflammatory syndrome PIMS-TS is a completely new challenge for pediatricians, which has established a separate branch of the fight against the still active COVID-19 pandemic. It turns out that even a pediatric patient who has not suffered symptomatic infection with the SARS-CoV-2 virus, as a result of contact with this pathogen, can develop a severe systemic inflammatory reaction rich in symptoms originating in almost every system of the human body. The first reports of the inflammatory syndrome that is the subject of this work come from May 2020. It is known that the symptoms of PIMS are caused by a multi-system inflammatory response in the body, potentially related to the immune system. The course of this disease may bring to mind other inflammatory diseases in children, such as Kawasaki disease, toxic shock syndrome and MAS macrophage activation syndrome

The role of selected mechanisms of innate immunity in the pathogenesis of diabetes

Understanding the important role of the non-specific immune response in protecting the body against the development of numerous diseases has become partially possible after the discovery of several classes of pattern recognition receptors (PRR), such as Toll-like or NOD-like receptors. A group of cytoplasmic proteins called the inflammasome, which detect PAMP and DAMP through the PRR receptors, is able to activate pro-inflammatory cytokines and trigger an acute inflammatory reaction both in the extracellular and intracellular space. Low-grade systemic and local inflammation contributes to the development and progression of various conditions, including autoimmune and metabolic diseases, such as diabetes, metabolic syndrome and atherosclerosis, which until recently were not even considered inflammatory diseases. This review will discuss the role of innate immunity in the development of type 1 and type 2 diabetes, focusing on the role of specific innate immunity receptors and insulin resistance involved in these diseases pathogenesis

Education of the child with epilepsy as the element of its wellness’ improvement

Epilepsy is the most common disease of the nervous system. Its etiology is multifactorial. The greatest risk for the occurrence of this disease is observed in children in the first decade of their life. The diagnosis of epilepsy and problems related to it affect not only the child but the whole family. It is important to take comprehensive measures of prevention and education to ensure patient safety and allow them to lead a normal life

Leucodystrophies at children

Introduction   Leukodystrophies involve a diverse group of rare hereditary disorders mostly affecting the white matter of the central nervous system, which straddleses nerves and glial cells. Unfortunately, these conditions are often undervalued by doctors from various specialties. The aim of the article was to present the most common leukodystrophies occurring in children  Material and methods  A review of the most common leukodystrophies based on the available literature. We conducted a systematic literature review. We searched the PubMed and Google Scholar databases from 1997 to 2023.  Conclusions  Leukodystrophies are rare genetic diseases that often present with non-specific symptoms, which can pose diagnostic challenges. Ocular abnormalities and psychomotor delay in the early stages of life should raise suspicion. A combination of symptoms may suggest a pyramidal-extrapyramidal form of cerebral palsy. Therefore, it is crucial to include a head MRI examination in the diagnostic workup and carefully evaluate the findings, as subtle imaging changes can indicate the presence of leukodystrophies. Currently, no causal treatment for leukodystrophies has been developed. Hence, further research is needed to enable the introduction of gene therapies.

Drug-resistant epilepsy treated with a vagus nerve stimulator – case report and literature review

The average incidence of epilepsy worldwide is estimated at 7.60 cases per 1,000 inhabitants, with an average annual incidence of 67.77 cases per 100,000 inhabitants. Epilepsy is one of the most common neurological diseases. However, it is not a disease entity, but a set of symptoms that may occur against the background of various morphological and metabolic changes in the brain. Symptoms of epilepsy include epileptic seizures, i.e. temporary disturbances in the bioelectric activity of brain nerve cells. Epilepsy is a brain disorder characterized by a persistent predisposition to trigger seizures, and the condition has neurobiological, cognitive, psychological, and social consequences. Effective treatment of epilepsy may require the use of various methods. In this paper, we would like to present a case report on the treatment of drug-resistant epilepsy using a vagus nerve stimulator (VNS). The described case may prove the effectiveness of treatment of focal drug-resistant epilepsy using vagus nerve stimulation (VNS). Choosing an appropriate, effective method of treating children with drug-resistant epilepsy is crucial; it is especially worth thinking about innovative methods such as VNS