The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland.

Background. Paediatric-onset MS (POMS) has a unique clinical profile compared to the more prevalent adult-onset MS. For this study, we aimed to determine the demographic and clinical characteristics of POMS in Poland as well as addressing some of its epidemiological aspects. Methods. A retrospective study was conducted based on the Polish Multiple Sclerosis Registry, considering a population of children and adolescents with MS (age ≤ 18 years). Data were collected by all 13 centres across Poland specializing in diagnosing and treating POMS. The actual course of the disease and its clinical properties were compared between child (≤12 years) and juvenile (>12 years) patients. MS onset and its prevalence were assessed at the end of 2019, stratified by age range. Results. A total of 329 paediatric or juvenile patients (228 girls, 101 boys) with a clinically definite diagnosis of MS, in conformity with the 2017 McDonald Criteria, were enrolled. For 71 children (21.6%), the first symptoms appeared before the age of 12. The female: male ratio increased with age, amounting to 1:1 in the ≤12 years group and to 2.9:1 in the >12 years group. In most cases, the disease had multi-symptomatic onset (31.3%), and its course was mostly of a relapsing−remitting character (95.7%). The initial Expanded Disability Status Score for both groups was 1.63 ± 1.1, whereas the annual relapse rate was 0.84 during the first 2 years. The time between the onset of symptoms and diagnosis was longer in the younger patients (8.2 ± 4.2 vs. 4.6 ± 3.6 months; p < 0.005). On 31 December 2019, the age-adjusted prevalence standardized to the European standard population was 5.19/100,000 (95% CI, 4.64−5.78). Significantly higher prevalence was noted in the 13−18 years group (7.12; 95% CI, 6.64−7.86) than in the 9−12 years group (3.41; 95% CI, 2.98−3.86) and the <9 years group (0.56; 95% CI, 0.46−0.64; p < 0.001). Conclusion. POMS commencing at the age of ≤12 years is rare, differing significantly from the juvenile-onset and adult MS in terms of clinical characteristics, course, and incidence, as stratified by gender.

Pediatric-onset multiple sclerosis in Poland: A registry-based retrospective cohort study.

BACKGROUND: Epidemiologic data on pediatric-onset multiple sclerosis (POMS) in Central and Eastern Europe are limited. The aim of this study was to determine the incidence, prevalence and the clinical features of POMS in Poland. METHODS: Registry-based retrospective study was conducted among Polish children population (age ≤ 18 years), between 1 January 2010 and 31 December 2019. A total of 329 pediatric or juvenile patients fulfilled the International Pediatric MS Study Group (IPMSSG) criteria for MS, reported to the Polish Multiple Sclerosis Registry, were considered for estimation of age- and sex-specific prevalence (per 100,000 persons), and incidence rates (per 100,000 person-years). The demographic data, clinical presentation and treatment strategies also were investigated. RESULTS: On December 31, 2019 in the database were collected data of 329 patients up to 18 years with POMS diagnosis (101 boys and 228 girls; mean age 15.3 ± 3.8 years). The age-adjusted prevalence standardized to the European Standard Population was 5.19/100,000 (95% confidence interval (CI), 4.64-5.78). A significantly higher prevalence was recorded in girls (7.41; 95% CI, 6.48-8.44) than in boys (3.08; 95% CI, 2.50-3.74; P<0.001). The mean annual standardized incidence in Poland between 2015 - 2019 was 0.77 (95%CI, 0.45-1.02) per 100,000 person-years. The highest overall standardized incidence 1.06 (95%CI, 0.82-1.34) was noted in 2018. Most of patients (95.7%) had relapsing-remitting disease with polysymptomatic onset in one-thirds of the cases, and 82.3% were treated with disease-modifying drugs. Family history of MS was reported in 26 cases (7.9%). CONCLUSION: In this first report of registry-based study from Poland an increasing prevalence and incidence of POMS was found during the last years. This temporal trend corroborate the findings of studies conducted elsewhere.

The smoker's paradox during the COVID-19 pandemic? The influence of smoking and vaping on the incidence and course of SARS-CoV-2 virus infection as well as possibility of using nicotine in the treatment of COVID-19 - Review of the literature.

AIM OF THE STUDY: The study aims to present the current state of knowledge on the impact of traditional cigarettes and the nicotine contained in them on the incidence and course of SARS-CoV-2 infection. Moreover, we decided to exhibit the possibility of using this substance to treat COVID-19 infections. MATERIAL AND METHODS: The latest available scientific publications were reviewed until November 14, 2020, from the PubMed platform. RESULTS: Nicotine is a cholinergic agonist and pro-inflammatory cytokines inhibitor. Some authors present that smoking and nicotine reduce the amount of the ACE2 receptors which are used by the novel coronavirus to enter cells, while others claim that ACE2 receptors are upregulated in smokers. Moreover, the interaction of SARS-CoV-2 with nAChR is suspected of dysregulation of the nicotinic cholinergic system, which is associated with the pathophysiology of COVID-19. Due to the harmfulness of cigarettes, a high frequency of smokers is suspected among people suffering from COVID-19. However, some studies report that the number of current smokers hospitalized for SARS-CoV-2 infection is lower than expected, considering the prevalence of smoking in individual countries. Nicotine could restore the impaired function of the nicotine cholinergic system and possibly mitigate the cytokine storm. CONCLUSIONS: There is no clear attitude regarding the impact of smoking on the new coronavirus infection now. Researchers do not recommend smoking as a tool to combat the pandemic and show the importance of fighting addiction to reduce the adverse health effects of smoking. Both the relationship between cigarettes and the morbidity and severity of COVID-19, as well as the possibility of using nicotine in the treatment of the disease, require further analysis.

Germinoma Mimicking Brain Inflammation: A Case Report.

The authors report a case of a germinoma of the brain in the child with symptoms restricted to central nervous system. Ten-year-old girl presented initially with sight deterioration, learning difficulties, abnormal behavior, polydipsia, and polyuria. Brain magnetic resonance examination revealed T2 hyperintensity of the corpus callosum, anterior commissure, and caudate nuclei. Brain biopsy revealed extensive macrophage infiltration. Given these results and positive antinuclear antibodies in the blood, immunosuppressive and immunomodulatory treatment was implemented but it was not effective. The patient developed progressive quadriparesis, sleep disturbances, and dementia. Second brain biopsy was performed and it revealed germinoma cells. Chemotherapy was administered, but the girl died due to disseminated intravascular coagulation syndrome. The reported case shows an unusual coexistence of germinoma with prominent inflammation in the brain and highlights the importance of brain biopsy in such complex cases.

Spinal cord lesions in children and adolescents with multiple sclerosis - Magnetic resonance imaging.

PURPOSE: The purpose of our study was to determine the prevalence of spinal cord lesions revealed by magnetic resonance (MR) imaging in children and adolescents with clinically definite multiple sclerosis (MS). MATERIAL AND METHODS: We retrospectively evaluated the spinal cord magnetic resonance examinations in a group of MS patients consisting of 58 children (37 girls and 21 boys) aged from 7 to 17.8 years (mean 13.7 years). All children met the criteria of clinically definite MS and had typical MS lesions revealed in the brain imaging. RESULTS: Spinal cord lesions, regardless of localization, were identified in 36 (62%) patients. In 22 of 58 patients (38%) no lesions were observed. The plaques were found in the cervical spinal cord and the thoracic spinal cord in 30 out of 36 (86.1%) and in 31 out of 36 (88.6%) patients, respectively. Contrast enhancement was noticed in 10 out of 36 patients (27.7%) and was not correlated with the number of lesions present. We noticed a tendency to higher EDSS score in patients with lesions in more than 1 spinal cord region. Our study showed that spinal cord lesions are more frequently present in patients with complex neurological disability. CONCLUSION: The prevalence of spinal cord lesions in children and adolescents with MS is high. Therefore, spinal cord MRI should be included in diagnostic program of MS.

Severe central and peripheral paraneoplastic demyelination associated with tumours of the ovaries.

PURPOSE: The aim of the study is to present MRI examinations of the brain and spinal cord, performed in girls with acute severe neurological presentation of paraneoplastic syndrome associated with ovarian teratomas. Paraneoplastic neurological syndrome (PNS) is a rare disorder caused by remote effects of malignancy in different organs. The pathogenesis of PNS concerns the autoimmune system and specific antibodies. PNS can be seen as encephalomyelitis, limbic encephalitis, progressive multifocal leukoencephalopathy, cerebellar ataxia, brainstem encephalitis, and paraneoplastic cerebellar degeneration. These symptoms are potentially reversible, if the underlying neoplasm is removed. METHODS: We presented three girls, aged 13, 17, and 18 years. They were all referred to the hospital because of an acute onset of severe disseminated encephalomyelitis. All MRI exams were performed on a 1.5 T scanner with a routine brain and spinal cord protocol, including TSE T2-WI and FLAIR sequences. In all cases, a contrast agent was injected in the standard dose. RESULTS: Neurological examination performed at the onset of the disease revealed hemiparesis, seizures, and consciousness disturbances. In one girl, visual field loss was also disclosed. They were all healthy before the onset of the disease. Brain and spinal cord MR imaging revealed multiple hyperintense lesions located supratentorially in the white matter of both hemispheres, in the pons, cerebellum, and spinal cord. Patients were treated with methyloprednisolone IV and IVIG. They all improved but significant sequelae were present. Two of them developed symptoms of acute demyelinating polyradiculoneuropathy within 2 months after the onset of encephalomyelitis. At the same time, brain MRI showed progression of the lesions. In two patients, anti-Yo antibodies were present in blood. Extensive examinations revealed bilateral ovarian teratomas in two patients, and left-sided ovarian teratoma in one case. Surgical resection of teratomas resulted in rapid clinical improvement. CONCLUSIONS: These cases show that in children and adolescents, acute demyelinating disease can be a manifestation of paraneoplastic neurological syndrome. Thus, PNS should always be considered in the differential diagnosis of encephalomyelitis. In female children and adolescents with suspected PNS, it is important to search for ovarian tumours.

Congenital subependymal giant cell astrocytomas in patients with tuberous sclerosis complex.

PURPOSE: Subependymal giant cell astrocytoma (SEGA) is a brain tumor associated with tuberous sclerosis complex (TSC). It usually grows in a second decade of life, but may develop in the first months of life. The aim of this work was to establish the incidence, clinical features, and outcome of congenital SEGA in TSC patients. METHODS: Cohort of 452 TSC patients was reviewed to identify cases with growing or hydrocephalus producing SEGAs in the first 3 months of life. Clinical presentation, size of the tumor, growth rate, mutational analysis, treatment applied, and outcome were analyzed. RESULTS: Ten (2.2 %) patients presented with SEGA in the first 3 months of life. All of them had documented SEGA growth and all developed hydrocephalus. In eight patients, mutational analysis was done, and in all of them, TSC2 gene mutations were identified. Mean maximum SEGA diameter at baseline was 21.8 mm. Mean SEGA growth rate observed postnatally was 2.78 mm per month and tended to be higher (5.43 mm per month) in patients with TSC2/PKD1 mutation than in other cases. Seven patients underwent SEGA surgery and surgery-related complications were observed in 57.1 % cases. One patient was successfully treated with everolimus as a primary treatment. CONCLUSIONS: Congenital SEGA develops 2.2 % of TSC patients. Patients with TSC2 mutations, and especially with TSC2/PKD1 mutations, are more prone to develop SEGA earlier in childhood and should be screened for SEGA from birth. In young infants with SEGA, both surgery and mTOR inhibitor should be considered as a treatment option.

MR venography in children and adolescents with multiple sclerosis does not show increased prevalence of extracranial veins anomalies.

BACKGROUND: Multiple sclerosis (MS) is a chronic demyelinating disease of the central nervous system that affects mainly young adults, but can occur also in children and adolescents. The pathogenesis of MS is still not fully understood and chronic cerebrospinal venous insufficiency (CCSVI) was suggested to be implicated in MS. Although there is no strong evidence to support this hypothesis, a considerable number of MS patients, including adolescents, have undergone endovascular treatment procedures. The aim of this study was the evaluate the prevalence of extracranial venous system anomalies in children and adolescents with multiple sclerosis in comparison to age-matched controls. MATERIAL AND METHODS: Twenty-one children with clinically definite diagnosis of MS (mean age 13.8 years), and 19 age-matched controls (mean age 12.5 years) were investigated using 1.5 T scanner with coronal 3D contrast-enhanced coronal venography. The diameters of internal jugular veins (IJV) at both sides of the neck were estimated separately, from the level C1 to Th1. RESULTS: Anomalies of the extracranial venous system were found in 10 MS patients (47.6%) and 13 controls (68.4%). Normal anatomy of extracranial veins was recognized in 11 MS patients (53%) and 6 controls (31%). Comparison of the measurement results for MS patients and the control group revealed that there are no significant statistical differences in cross-section areas for a given level. CONCLUSIONS: We found no evidence to suggest that MS children and adolescents have more extracranial veins anomalies than healthy patients. Considering the risk of such treatment, endovascular interventions should be discourage.

[Juvenile form of Alexander's disease - a case confirmed by detection of mutation in GFAP gene]. / Przypadek postaci dzieciecej choroby Alexandra potwierdzony wykryciem mutacji w genie GFAP.

Alexander's disease is a rare and fatal disorder of the central nervous system. It may appear at any age so three forms are delineated: infantile, juvenile and adult form. Alexander's disease inescapably leads to psychomotor retardation, progressive loss of nervous functions and characteristic changes in neuroimaging studies. The authors present a case of a 6-year-old girl, who was admitted to the Neurology Department after an episode of long-term vomiting, trismus and blurred speech. Computed tomography and magnetic resonance imaging of the brain showed characteristic changes of the white matter in the frontal lobes, which enabled us to make a preliminary diagnosis of Alexander's disease. The diagnosis was subsequently confirmed by molecular genetic testing of the gene encoding glial fibrillary acidic protein (GFAP). This article also presents clinical symptoms and course of this degenerative disorder. The authors point out the important role of neuroimaging and the necessity of molecular examination as a new diagnostic tool.