Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.

INTRODUCTION: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by GFAP mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features. In this case report, we provide a detailed clinical description of the neonatal type of AxD. METHOD: Next-Generation Sequencing (NGS), including a panel of 49 genes related to Early Infantile Epileptic Encephalopathy (EIEE), was carried out, and then Whole Exome Sequencing (WES) was performed on the proband's DNA extracted from blood. CASE DESCRIPTION: In the first weeks of life, the child presented with signs of increased intracranial pressure, which led to ventriculoperitoneal shunt implementation. Recurrent focal-onset motor seizures with secondary generalization occurred despite phenobarbital treatment. Therapy was modified with multiple anti-seizure medications. In MRI contrast-enhanced lesions in basal ganglia, midbrain and cortico-spinal tracts were observed. During the diagnostic process, GLUT-1 deficiency, lysosomal storage disorders, organic acidurias, and fatty acid oxidation defects were excluded. The NGS panel of EIEE revealed no abnormalities. In WES analysis, GFAP missense heterozygous variant NM_002055.5: c.1187C>T, p.(Thr396Ile) was detected, confirming the diagnosis of AxD. CONCLUSION: AxD should be considered in the differential diagnosis in all neonates with progressive, intractable seizures accompanied by macrocephaly.

Laparoscopic Uterine Preservation and Vaginal Reconstruction in a 13-Year-Old Girl with Uterus Didelphys, Bilateral Vesicovaginal Fistulas, and Transverse Vaginal Septum.

BACKGROUND: Complex female genital tract malformations account for 1.2% of all female genitourinary malformations. Although exceedingly rare, they can cause severe gynecologic symptoms in young women and lead to fertility problems. CASE: We present the case of a 13-year-old girl with primary amenorrhea referred for cyclic abdominal lower pain and menouria. Detailed diagnostics revealed uterus didelphys, transverse vaginal septum, and bilateral vesicovaginal fistulas. Laparoscopic left hemi-hysterectomy and salpingectomy were performed. The vesicovaginal fistula on the right side was excised, and the proximal vagina was anastomosed with the distal dimple. Since the operation, the patient has been pain-free and menstruating regularly from the right uterus. SUMMARY AND CONCLUSION: Preservation of the uterus should be considered in any case of complex female genital tract malformation and, as successful laparoscopic treatment advocates, a minimally invasive approach is feasible.

Posterior reversible encephalopathy syndrome in children with malignancies - a single-center retrospective study.

Background: Posterior reversible encephalopathy syndrome (PRES) diagnosis relies on clinical and radiological characteristics. Clinical manifestations include focal neurologic deficits, hemiparesis, seizures with symptoms of intracranial hypertension, headache, nausea, vomiting, and visual field disturbances. The majority of patients have typical changes in magnetic resonance imaging. The epidemiology and outcomes of PRES in the pediatric cancer population have not been well described. Most of the available data are from retrospective analyses. Objective: The aim of our study was to evaluate the clinical and radiological presentation as well as the outcome of PRES in children treated for cancers in a single center. Methods: We analyzed data from 1,053 patients diagnosed with malignancies in a single center over 15 years to determine the incidence of PRES. Results: 19/1053 (1.8%) patients developed PRES. The diagnosis was accompanied by a range of clinical symptoms including hypertension, seizures, altered mental status, and headaches. Magnetic resonance imaging was performed in all patients, and 14/19 (73.7%) exhibited typical findings consistent with PRES. Four patients (21.0%) required treatment in the Intensive Care Unit. Conclusion: Posterior reversible encephalopathy syndrome (PRES) is a rare but significant complication in children with cancer.There is a clear need to establish clinical criteria for PRES to improve the diagnosis and treatment of patients with PRES, particularly in the pediatric oncological population.Further studies are needed to identify the risk factors for recurrent PRES, particularly in pediatric cancer patients undergoing chemotherapy or immunosuppressive treatment.

Mucopolysaccharidosis Type 1 among Children-Neuroradiological Perspective Based on Single Centre Experience and Literature Review.

Mucopolysaccharidosis 1 (MPS 1) is a group of rare lysosomal genetic disorders resulting from the accumulation of undegraded glycosaminoglycans (GAGs) leading to multiorgan damage. Neurological symptoms vary from mild to severe. Neuroimaging-mainly magnetic resonance (MRI)-plays a crucial role in disease diagnosis and monitoring. Early diagnosis is of the utmost importance due to the necessity of an early therapy implementation. New imaging tools like MR spectroscopy (MRS), semiquantitative MRI analysis and applying scoring systems help substantially in MPS 1 surveillance. The presented analysis of neuroimaging manifestations is based on 5 children with MPS 1 and a literature review. The vigilance of the radiologist based on knowledge of neuroradiological patterns is highlighted.

Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review.

Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diagnosis. First was an 8-year-old girl who presented with symptomatic epilepsy, cerebral palsy and developmental delay. In 2020, she was admitted to the hospital due to the exacerbation of paresis and intensified prolonged epileptic seizures, provoked by infection of the middle ear. Diagnostic imaging revealed radiological changes suggestive of ECCL, providing a reason for the diagnosis, despite the lack of skin and eye anomalies. The second child, a 14-year-old girl, was consulted for subtle clinical signs and epilepsy suspicion. Diagnostic imaging findings were similar, though less pronounced. Based on neuroradiological abnormalities typical for Haberland syndrome, the authors discuss possible ECCL diagnosis.

CDKL5 Deficiency Disorder (CDD)-Rare Presentation in Male.

CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000-60,000 live births. So far, 50 cases have been described in boys. The clinical course in males tends to be more severe and is often associated with death in the first or second decade of life. The authors present an unreported 2.5-year-old male patient with drug-resistant epilepsy who was diagnosed with a de novo mutation in the CDKL5 gene. First seizures developed in the fifth week of life and have progressed steadily since then. The child's psychomotor development was strongly delayed, and generalized hypotonia was noticed since birth. Brain MRI showed areas of incomplete myelination, posterior narrowing of the corpus callosum, a pineal cyst of up to 3 mm, and open islet lids. Intensive antiseizure medications (ASMs), a ketogenic diet, and steroid therapy were not successful. Short-term improvement was achieved with the implantation of a vagal nerve stimulator (VNS). Due to the progressive course of the disease, the boy requires frequent modification of ASMs.

The Analysis of a Genome-Wide Association Study (GWAS) of Overweight and Obesity in Psoriasis.

There is evidence that the concomitance of psoriasis and obesity may originate from the interplay between multiple genetic pathways and involve gene−gene interactions. The aim of this study was to compare the genetic background related to obesity among psoriatic patients versus healthy controls by means of a Genome-Wide Association Study (GWAS). A total of 972 psoriatic patients and a total of 5878 healthy donors were enrolled in this study. DNA samples were genotyped for over 500,000 single nucleotide polymorphisms (SNPs) using Infinium CoreExome BeadChips (Illumina, San Diego, CA, USA). Statistical analysis identified eleven signals (p < 1 × 10−5) associated with BMI across the study groups and revealed a varying effect size in each sub-cohort. Seven of the alternative alleles (rs1558902 in the FTO gene, rs696574 in the CALCRL gene, as well as rs10968110, rs4551082, rs4609724, rs9320269, and rs2338833,) are associated with increased BMI among all psoriatic patients and four (rs1556519 in the ITLN2 gene, rs12972098 in the AC003006.7 gene, rs12676670 in the PAG1 gene, and rs1321529) are associated with lower BMI. The results of our study may lead to further insights into the understanding of the pathogenesis of obesity among psoriatic patients.

Chronic Plaque Psoriasis in Poland: Disease Severity, Prevalence of Comorbidities, and Quality of Life.

The epidemiology of psoriasis has not been widely assessed in Polish population so far. This study aimed to investigate psoriasis epidemiological situation by evaluating disease course and severity, management, comorbidities, environmental factors, and knowledge about this disorder among psoriatic patients in Poland. A cross-sectional cohort population-based study enrolled 1080 psoriatic patients and 1200 controls. The mean age of psoriasis onset was 27.6 years; 78.24% had type I psoriasis. Positive family history of psoriasis was reported in 44.81% of patients, whereas itch was reported in vast majority of patients (83.33%). Based on PASI score moderate psoriasis was the most common in studied group (mean 12.63 ± 9.33, range 0−67.2). The DLQI score (12.01 ± 7.41, range 0−30.0) indicated a very large effect of psoriasis on the quality of life. Hypertension was the most prevalent comorbidity (33.80%), followed by obesity (16.85%) and dyslipidemia (11.85%). Stress was the foremost cause of disease exacerbation (66.20%); however, infections (44.07%) and seasonal changes (45.09%) had also an impact on the course of psoriasis. Psoriatic patients were more often smokers (37.59%) vs. general population (27.50%; p < 0.0001). In conclusion, epidemiological studies help clinicians in better disease and patient understanding, which may translate into better management and patient compliance.

Segmenting pediatric optic pathway gliomas from MRI using deep learning.

Optic pathway gliomas are low-grade neoplastic lesions that account for approximately 3-5% of brain tumors in children. Assessing tumor burden from magnetic resonance imaging (MRI) plays a central role in its efficient management, yet it is a challenging and human-dependent task due to the difficult and error-prone process of manual segmentation of such lesions, as they can easily manifest different location and appearance characteristics. In this paper, we tackle this issue and propose a fully-automatic and reproducible deep learning algorithm built upon the recent advances in the field which is capable of detecting and segmenting optical pathway gliomas from MRI. The proposed training strategies help us elaborate well-generalizing deep models even in the case of limited ground-truth MRIs presenting example optic pathway gliomas. The rigorous experimental study, performed over two clinical datasets of 22 and 51 multi-modal MRIs acquired for 22 and 51 patients with optical pathway gliomas, and a public dataset of 494 pre-surgery low-/high-grade glioma patients (corresponding to 494 multi-modal MRIs), and involving quantitative, qualitative and statistical analysis revealed that the suggested technique can not only effectively delineate optic pathway gliomas, but can also be applied for detecting other brain tumors. The experiments indicate high agreement between automatically calculated and ground-truth volumetric measurements of the tumors and very fast operation of the proposed approach, both of which can increase the clinical utility of the suggested software tool. Finally, our deep architectures have been made open-sourced to ensure full reproducibility of the method over other MRI data.

Cognitive performance of medulloblastoma tumour survivors related to the area of cerebellum damage.

Background: The aim of the study was to determine the relationship between a damaged cerebellum area and the cognitive performance of medulloblastoma tumour survivors. Also, age-based differences in cognitive performance were tested. Materials and methods: Magnetic resonance imaging (MRI) technique was used to obtain brain images of survivors. The cognitive performance was tested using Wechsler Intelligence Scale for Children Revised (WISC-R) and Wechsler Adult Intelligence Scale (WAIS). Statistical analysis was performed with highly robust permutation tests. Results: There were two anatomical features strongly influencing the cognitive performance of survivors. The extension of the foramen of Luschka had a negative impact on the overall verbal IQ score and some non-verbal scales while the excision of the middle part of the vermis influenced scores in such scales as arithmetic and picture completing. Conclusions: Children with postoperative damages in the area of the middle part of the vermis are more likely to suffer from cognitive dysfunctions after the end of the treatment.

Analysis of the Clinical Course of Primary Sclerosing Cholangitis in Paediatric Population-Single Center Study.

Background and Objectives: Primary sclerosing cholangitis (PSC) is a rare cholestatic disease of the liver of unknown etiology, severe course and poor prognosis. PSC most often co-occurs with inflammatory bowel diseases (IBD), especially with ulcerative colitis (UC). The aim of the study was the analysis of the clinical course of primary sclerosing cholangitis in children, hospitalized in the Gastroenterology Unit in Katowice. Materials and Methods: The analysis included 30 patients, aged from 7 to 18 years, 21/30 boys (70%) and 9/30 girls (30%), diagnosed with PSC in the years 2009-2019. The analysis included the age at diagnosis, clinical symptoms, course of the disease, coexisting diseases, laboratory and imaging results, and complications. Results: The average age at diagnosis was 13 years. 22/30 (73.3%) patients suffered from UC, 4/30 (13.3%) were diagnosed with Crohn's disease (CD), 2/30 (6.66%) with Eosinophilic Colitis (EC). 2/30 patients (6.66%) had no clinical evidence of coexistent IBD to date. In addition, 7/30 (23.3%) had an overlap syndrome of primary sclerosing cholangitis/autoimmune hepatitis. When PSC was detected before IBD (6/30-20%), patients had complications more often compared to those diagnosed with IBD first or PSC and IBD at the same time. At the moment of diagnosis 6/30 (20%) patients presented with abdominal pain, which was the most common symptom, 3/30 (10%) jaundice, while 17/30 (56.6%) were asymptomatic but had abnormal results of the laboratory tests. Conclusions: Monitoring liver markers in IBD patients is important since most PSC cases are asymptomatic and their elevation might be the first sign of the disease. Patients diagnosed with PSC before IBD diagnosis are more likely to have a more aggressive course of the disease.

Multiple variants of obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome - one clinical center case series and the systematic review of 734 cases.

INTRODUCTION: Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome is a rare female urogenital tract malformation. STUDY OBJECTIVE: To present 10 patients with OHVIRA treated at the clinical center. To perform a systematic review of OHVIRA case series related to the prevalence of anatomical variants, surgical interventions and endometriosis, and to compare them with our case series. MATERIALS AND METHODS: Medical records from 10 OHVIRA patients treated between 2016 and 2020 were retrospectively reviewed. For the systematic review, PubMed and Web of Science were used to search for relevant studies. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were strictly followed. RESULTS: The most common anatomical variant includes left obstructed hemivagina (50.7%) with isolated hematocolpos or hydrocolpos (55.9%), uterus didelphys (82.9%), and ipsilateral renal agenesis (92.2%). Vaginal septectomy was the most common surgical approach (86.5%). Hemivaginectomy (2.2%), hemihysterectomy (4.2%), or total hysterectomy (0.7%) were also performed in several patients. Some subjects required salpingectomy (3.3%) or oophorectomy (1.8%). 7.5% of patients, mainly infants, did not require surgery due to the spontaneous resolution of hydrocolpos. Endometriosis was fortuitously found in 13.6% of the selected cases who underwent laparoscopy or laparotomy. DISCUSSION: The most common variant of OHVIRA includes isolated hematocolpos and a thick vaginal septum between adjacent hemivaginas. Endometriosis was present in approximately 14% of OHVIRA patients, but this number is probably underestimated. Routine laparoscopy is not required. However, all patients need further monitoring due to a higher risk of endometriosis. Based on the analyzed studies and our case series, vaginal septectomy is a sufficient surgical technique to relieve symptoms and prevent possible complications in most OHVIRA patients.

Assessment of Post-Stroke Consequences in Pediatric Ischemic Stroke in the Context of Neuroimaging Results-Experience from a Single Medical Center.

Arterial ischemic stroke (AIS) in children is a rare condition; its frequency is estimated at 0.58 to 7.9 new onsets in 100,000 children per year. The knowledge on risk factors, clinical outcomes and consequences of pediatric AIS is increasing. However, there are still many unknowns in the field. The aim of the study was to analyze the clinical presentation of pediatric AIS and its consequences according to the neuroimaging results and location of ischemia. The research was retrospective and observational. The analyzed group consisted of 75 AIS children (32 girls, 43 boys), whereby the age of the patients ranged from 9 months to 18 years at stroke onset. All the patients were diagnosed and treated in one tertiary center. The most frequent stroke subtype was total anterior circulation infarct (TACI) with most common ischemic focus location in temporal lobe and vascular pathology in middle cerebral artery (MCA). The location of ischemic focus in the brain correlated with post-stroke outcomes: intellectual delay and epilepsy, hemiparesis corresponded to the location of vascular pathology. A correlation found between ischemic lesion location and vascular pathology with post-stroke consequences in pediatric AIS may be important information and helpful in choosing proper early therapy. The expected results should lead to lesser severity of late post-stroke outcomes.

Neuroimaging of Basal Ganglia in Neurometabolic Diseases in Children.

Diseases primarily affecting the basal ganglia in children result in characteristic disturbances of movement and muscle tone. Both experimental and clinical evidence indicates that the basal ganglia also play a role in higher mental states. The basal ganglia can be affected by neurometabolic, degenerative diseases or other conditions from which they must be differentiated. Neuroradiological findings in basal ganglia diseases are also known. However, they may be similar in different diseases. Their assessment in children may require repeated MRI examinations depending on the stage of brain development (mainly the level of myelination). A large spectrum of pathological changes in the basal ganglia in many diseases is caused by their vulnerability to metabolic abnormalities and chemical or ischemic trauma. The diagnosis is usually established by correlation of clinical and radiological findings. Neuroimaging of basal ganglia in neurometabolic diseases is helpful in early diagnosis and monitoring of changes for optimal therapy. This review focuses on neuroimaging of basal ganglia and its role in the differential diagnosis of inborn errors of metabolism.

Pathogenesis of psoriasis in the "omic" era. Part IV. Epidemiology, genetics, immunopathogenesis, clinical manifestation and treatment of psoriatic arthritis.

Psoriatic arthritis (PsA) is a chronic, progressive, inflammatory arthropathy associated with psoriasis as well as a complex pathogenesis. Genetic and environmental factors trigger the development of the immune-mediated auto-inflammatory response in different sites: skin, bone marrow, entheses and synovial tissues. Studies of the last two decades have changed the view of PsA from a mild, non-progressive arthritis to an inflammatory systemic disease with serious health consequences, not only associated with joint dysfunction, but also with an increased risk of cardiovascular disease and socioeconomic consequences with significantly reduced quality of life. The joint damage starts early in the course of the disease, thus early recognition and treatment with modern biological treatments, which may modify the natural history and slow down progression of this debilitating disease, is essential for the patient long-term outcome.

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome.

Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

Hand Injuries in the Polish Silesian Paediatric Population-An Exploratory Cross-Sectional Study of Post-Traumatic X-rays.

Background and objectives: In the paediatric population, hand injuries are one of the most frequent injuries and the second most frequent area of fracture. It is estimated that hand injuries account for up to 23% of the trauma-related causes of emergency department visits. Not only are they a significant factor in health care costs, but they may also lead to detrimental and long-term consequences for the patient. The discrepancy observed between the published studies suggests a geographical variation in their epidemiology. The aim of this study is to determine the localisation of injuries and fractures involving the hand in the paediatric population of the Polish Silesia region. This exploratory cross-sectional study involved 1441 post-traumatic hand X-ray examinations performed at the Department of Diagnostic Imaging of the John Paul II Upper Silesian Child Health Centre in Katowice between January and December 2014. Materials and Methods: The study group consisted of 656 girls and 785 boys who were 11.65 ± 3.50 and 11.51 ± 3.98 years old, respectively (range: 1-18 years). All examinations were evaluated for the location of the injury and presence of fracture(s). Results: Finger injuries were dominant (n = 1346), with the fifth finger being the most frequently injured (n = 381). The majority of injuries were observed among children who were 11 years old (n = 176), with a visible peak in the 11- to 13-year-old group. A total of 625 bone fractures were detected. Fractures of the proximal phalanges (n = 213) and middle phalanges (n = 159) were most common, and fifth finger (n = 189) predominance was again observed. A gender-independent positive correlation was found between patients' age and finger injuries (p < 0.01) as well as metacarpal injuries (p < 0.01). There was no correlation between patients' age and fractures in these locations (p > 0.05). Metacarpal injuries (p < 0.01), finger injuries (p < 0.01), fractures (p = 0.01), and fractures with displacement (p = 0.03) were more common among males regardless of age. Conclusions: The results indicate that 11-year-old boys are at an increased risk of hand injuries and fractures. The distal and middle phalanges of the right hand, especially of the fifth digit, were the most susceptible to fracture localisation. Thus, injuries in these areas should be perceived as most likely to cause fractures and therefore demand careful examination.

Pathogenesis of psoriasis in the "omic" era. Part III. Metabolic disorders, metabolomics, nutrigenomics in psoriasis.

Psoriasis is a systemic disease that is strictly connected with metabolic disorders (insulin resistance, atherogenic dyslipidemia, arterial hypertension, and cardiovascular diseases). It occurs more often in patients with a more severe course of the disease. Obesity is specially an independent risk factor and it is associated with a worse treatment outcome because of the high inflammatory activity of visceral fatty tissue and the production of inflammatory mediators involved in the development of both psoriasis and metabolic disorders. However, in psoriasis the activation of the Th17/IL-17 and the abnormalities in the Th17/Treg balance axis are observed, but this pathomechanism does not fully explain the frequent occurrence of metabolic disorders. Therefore, there is a need to look for better biomarkers in the diagnosis, prognosis and monitoring of concomitant disorders and therapeutic effects in psoriasis. In addition, the education on the use of a proper diet as a prophylaxis for the development of the above disorders is an important element of holistic care for a patient with psoriasis. Diet may affect gene expression due to epigenetic modification which encompasses interactions of environment, nutrition and diseases. Patients with psoriasis should be advised to adopt proper diet and dietician support.