<p><strong>Background: </strong>Acquired demyelinating diseases (ADD) of central nervous system encompasses a wide spectrum of neurological symptoms depending on the location and the severity of demyelination. The aim of this study is to present the frequency and the clinical, immunological, and radiological characteristics of ADD in pediatric patients at the Pediatric Clinic, Clinical Center University of Sarajevo.</p> <p><strong>Methods:</strong> This is a retrospective observational study, conducted between 2017-2024, that included patients under 18 years with ADD. The diagnosis is established through clinical evaluation, characteristic MRI findings, immunological markers, and the exclusion of alternative conditions that mimic ADD, following the IPMSSG (International Pediatric Multiple Sclerosis Study Group ) 2010 criteria. We classified the patients into two groups based on the disease course: monophasic, multiphasic group which is further subdivided into multiple sclerosis (MS) and non-MS multiphasic group.</p> <p><strong>Results</strong>: Forty-one patients with ADD were included in the study. Seventeen patients (17/41, 41.46%) remained monophasic, whereas twenty-four patients (24/41, 58.54%) exhibited a multiphasic course. Within the multiphasic group 22/24 patients (91.67%) were diagnosed with multiple sclerosis (MS), and 2/24 (8.33%) had a non-MS multiphasic disease course.</p> <p><strong>Conclusion:</strong> In this study, we presented the frequency and the clinical, immunological, and radiological characteristics of acquired demyelinating diseases in pediatric patients. Recognizing these distinct clinical patterns is crucial for enhancing early diagnostic accuracy and optimizing management strategies in this patient population. Ultimately, our study supports the need for a prospective, multicentric investigation to further consolidate data and refine our understanding of ADD epidemiology in our region.</p>

Introduction: Syncope is one of the most common reasons for seeking medical attention in the pediatric population. The underlying etiology ranges from benign causes to potentially life-threatening conditions. Objective: This cross-sectional retrospective study aimed to cardiologically evaluate children presenting with syncope and identify potential predictive parameters for cardiogenic syncope, the most dangerous type of syncope. Patients and Methods: Data from 100 children aged 6 to 18 years who presented with syncope were retrospectively collected from medical records at the Pediatric Clinic of the Clinical Center of the University of Sarajevo between January 1, 2021, and December 31, 2022. Binary logistic regression was used to examine the predictive significance of the studied parameters. Results: Of the 100 children with documented syncope, 71.0% were girls, with the peak incidence of syncope episodes occurring at age 15. There were no statistically significant differences in height, weight, or BMI between boys and girls. The most common cardiac diagnosis was sinus arrhythmia, while headache was the most frequent non-cardiac symptom. Seventy-three percent of patients experienced more than one syncope episode, with the highest percentage occurring at school. Prodromal symptoms were present in 87% of cases, whereas palpitations and chest pain prior to syncope were reported in 10% and 12% of cases, respectively. Among the 49 patients with abnormal ECG findings, 29% had sinus arrhythmia and 25% had incomplete right bundle branch block. The most common echocardiographic finding was mild pulmonary valve regurgitation, which is considered a physiological variant. Of all studied parameters, only EEG demonstrated significant predictive value for cardiogenic syncope (p = 0.035, EXP(B) = 2.99). Conclusion: EEG findings have predictive significance for cardiogenic syncope in children. A borderline EEG increases the odds of cardiogenic syncope by approximately threefold.

Background: Guillain-Barré syndrome (GBS) is an acute, immune-mediated post-infectious polyradiculoneuropathy usually presenting with symmetrical ascending weakness, diminished deep tendon reflexes, and non-specific sensory symptoms. GBS is in essence an autoimmune disorder, and the underlying mechanism is thought to result from so-called molecular mimicry. This hypothesis is further supported by approximately 2/3 of the patients having a preceding infection. In most cases, the infectious trigger occurs in the gastrointestinal or respiratory tract, with the disease manifesting within four weeks. Even though it most commonly affects children aged 1 to 5 years old, there are rare cases reported in neonates and infants. Case Presentation: We report a case of a 6-month-old infant with Guillain-Barré syndrome following a respiratory infection. The diagnosis was confirmed through cerebrospinal fluid analysis, EMNG, spine MRI, and clinical assessment. Positive human herpes virus 6 (HHV-6) in cerebrospinal fluid suggested a potential infectious trigger. The infant was treated with intravenous immunoglobulin and ganciclovir, requiring intensive care and mechanical ventilation. Recovery involved gradual neurological improvement and restored motor function over 30 days. Conclusion: GBS is a rare disorder, especially in children and requires multidisciplinary management to prevent complications from occurring and thereby improve the prognosis of patients. Upon arrival at the emergency department, all patients should be carefully evaluated, looking for autonomic and respiratory dysfunction signs. Generally, pediatric patients have a better prognosis compared to adults. Initiation of treatment in the early stages of the disease leads to a faster recovery and consequently fewer sequelae.

Background: Benign acute childhood myositis (BACM) is a rare complication of viral URTIs, usually occurring in winter. It is characterized by acute onset of bilateral calf pain and difficulty/refusal to walk. A prodromal phase precedes these manifestations, consisting of catarrhal and constitutional symptoms. These are associated with increased muscle-specific enzymes, usually normal inflammatory parameters, and leukopenia. Objective: Our study aimed to define the demographic, clinical, and laboratory characteristics of BACM patients and determine the etiology leading to their development. Methods: Medical charts for patients diagnosed with BACM from October to April 2023/2024 at the Pediatric Clinic Clinical Center University of Sarajevo, Department of Allergology, Rheumatology, and Immunology were reviewed retrospectively. Relevant medical information was collected for 20 patients. Statistical analysis was done in Microsoft Excel 2013. Results: Demographic analysis demonstrated male predominance (75%), with primarily school-aged children affected (median age 8.36). Most cases occurred in winter (60%). The majority of patients presented with bilateral calf pain (100%), difficulty walking (90%), and fever (100%). All cases demonstrated increased CK levels, with median values of 3779 U/L; a notable number had leukopenia (70%). The most commonly isolated pathogen was Influenza B virus (75%). Conclusion: BACM is relatively rare but presents acutely and leads to plenty of distress for both patients and their parents. A child with coryzal symptoms complicated by bilateral calf pain or difficulty/refusal to walk and an increase in CK levels should raise suspicion of BACM. The condition is self-limiting and usually resolves without complications.

Background: Tuberous Sclerosis Complex (TSC) is an autosomal dominant genetic disorder and involves multiple organs, intellectual disability and epilepsy. Mutations in TSC1 and TSC2 genes are responsible for the molecular disease mechanism. Objective: The aim is to determine molecular background of a patient with a suspicion of TSC. Case presentation: In this case report, we describe a seven year old patient with the clinical manifestation of TSC that includes supratentorial changes, subependymal hamartomas and angifibromas in the facial area. Besides the brain and skin changes, no other TSC characteristics were observed. The patient was referred to molecular genetic testing using Next Generation Sequencing (NGS). Results: Clinical exome sequencing revealed intronic TSC2 c.4849+2T>G variant. The variant was confirmed using Sanger sequencing on the subject. However, the variant was not detected in the parents, which indicated that it arose de-novo. The RegSNP-intron, Mutation Taster and Human Splicing Finder were used as a bioinformatic tools to predict the possible effect on protein. Using bioinformatic tools, it was determined that the variant is possibly damaging to protein. Conclusion: This data suggest that observed splicing intronic variant could be the cause of TSC in this pediatric patient.

Background: Levetiracetam (LEV) is a broad spectrum second-generation antiepileptic drug (AED). Objective: The objective of the study was to investigate the efficacy and safety of levetiracetam for childhood epilepsies. Methods: This is single, tertiary centre observational, prospective study, that included paediatric patients who were treated with levetiracetam at Paediatric hospital University Clinical Centre Sarajevo, during the period of 15 years (2008-2022). Inclusion criteria were: paediatric patients age > 1 month, diagnosed with epilepsy according to International League Against Epilepsy. After the introduction of levetiracetam, each patient has been followed up at least 12 months. According to the outcome the patients were divided into 5 groups: seizure reduction >50%, seizure reduction <50%, complete seizure freedom, the same number of seizures and increased number of seizures. From these groups two intergroups have been formed: responders (seizure reduction >50% and complete seizure freedom) and non-responders (seizure reduction <50%, the same number of seizures and increased number of seizures). Results The study enrolled 259 patients (141 female and 118 male), with mean age 7 years (3,0–12.0). Comorbidities were present at 129/259 (49.8%) patients. After 12 months of treatment, 25/259 (9.7%) patients had seizure reduction >50%, 30/259 (11.6%) patients had seizure reduction <50%, 154/259 (56.5%) patients had achieved seizure freedom, 31/259 (12%) patients had same number of seizures, while 19/259 (7.3%) patients had increased number of seizures. Seizure frequency between responders and non-responders, before treatment and after 12 months of treatment was statistically significant (p<0.001). Discussion: Non responders had the best outcome with ditherapy (30/79; 38%), while responders had the best outcome with monotherapy (161/180;89.4%). Conclusion: Levetiracetam is efficient antiepileptic drug for different types of epilepsies in childhood, used as mono, di or polytherapy.

Background: Acute kidney injury (AKI) is the result of various causes and is associated with significant morbidity and mortality as well as long-term renal sequelae in pediatric patients. Objectives: The aim of the study is to determine the causes of AKI in pediatric patients who needed renal replacement therapy (RRT) and were admitted to the Pediatric and Neonatal Intensive Care Unit (PICU and NICU) at the Pediatric Clinic, University Clinical Center Sarajevo (UCCS). Methods: Our research included 81 children with AKI who needed RRT. We used the Kidney Disease: Improving Global Outcomes (KDIGO) criteria to define AKI. Severe acute kidney injury was defined as stage 2 or 3 of AKI when plasma creatinine level ≥2 times the baseline level or urine output <0.5 ml per kilogram of body weight per hour for ≥12 hours. Other laboratory findings and imaging tests were made depending on their primary disease that led to the AKI and its complications. Results: Our research analyzed 81 children with AKI who needed RRT 38 girls and 43 boys ages from birth to 18 years. Mean age of presentation was 6.28 years. Male female ratio in this study was 1.1:1. Non-olyguric AKI was diagnosed in 12 (14.8%) of children with AKI, while the rest 69 (85.2%) had the olyguric type. Patients with AKI were analyzed after a rough division on prerenal in 57 (70.4%) children, intrarenal in 23 (28.4%) and post-renal in 1 (1.2%) patient. Conclusion: As the AKI plays a key role in the mortality and morbidity in pediatric patients, especially in infants, it is important to recognise and treatment on time different etiologies of this serious condition. Some causes of AKI in our country can be prevented by better organization of primary and secondary health care, which would also reduce mortality and morbidity from AKI.

Aim To assess hand function and explore the relationship between hand function and neuroimaging findings in children with unilateral spastic cerebral palsy (US CP). Methods Hand function was assessed using Manual Ability Classification System (MACS, I-V). Brain lesions were divided into five groups: brain maldevelopment (MAL), periventricular white matter lesions (PV WM), cortical/subcortical gray matter lesions (C/SC GM), nonspecific and normal findings. Results Of 114 children with US CP (77 boys and 37 girls), 56 were with right-sided and 58 with left-sided involvement. MACS I was found in 49 (42.9%), MACS II in 19 (16.7%), MACS III in 19 (16.7 %), MACS IV in 9 (7.9%) and MACS V in 18 (15.8%) children (p=0.002). Computed tomography (CT) as the only neuroimaging has been done in 18 (15.8%), magnetic resonance imaging (MRI) at 94 (82.5%) children, whereas 2 (1.7%) children had neither CT nor MRI. The CT showed PV WM in eight (44.4%), C/SC GM lesions in 6 (33.3%), and normal findings in 4 (22.2%) children (p=0.709). The MRI showed MAL in 8 ( 8.5%), PV WM in 46 (48.9%), C/SC GM in 28 (29.8%), miscellaneous in 2 (2.1%), and normal finding in 10 (10.7%) children (p=0.0001). Mild hand dysfunction (MACS I and II) was assessed in 68 (59.7%) children, of which 33 had PV WM lesions (p=0.001). Conclusion Mild hand dysfunction in children with US CP has been significantly associated with PV WM lesions. The type of brain lesion may help to identify its timing and predict the level of hand dysfunction.

Introduction: Epilepsy is one of the most common neurological diseases in childhood and adolescence. Carbamazepine (CBZ) and valproate (VPA) have been widely used as the first generation of antiepileptic drugs (AED). Aim: The aim of the study has been to evaluate and compare the effect of CBZ and VPA monotherapy on aspartate aminotransferase (AST), alanine aminotransferase (ALT) and gamma-glutamyltransferase (GGT) serum levels in children. Material and methods: The study has included 100 patients (boys 57/girls 43, age range 1 to 18 years), who have been treated with CBZ or VPA, as initial monotherapy, for at least 12 months. Patients with liver lesions or patients who have been treated with other drugs have been excluded from the study. The initial serum enzyme levels (AST, ALT and GGT) and after 12 months of treatment have been compared. Results: 53/100 (53%) patients have been treated with CBZ and 47/100 (47%) patients have been treated with VPA.The initial level of enzymes were within the referece range. After one year-long treatment AST was elevated at 4/53 (7.5%) CBZ patients and 9/47 (19.15%) VPA patients (x2 test =3.965, p<0.05). ALT was elevated at 5/53 (9.4%) CBZ patients and 9/47 (19.15%) VPA patients (x2 test =6.953, p<0.05). GGT was elevated at 18/53 (34%) CBZ patients and 7/47 (14.9%) VPA patients (x2 test =4.831, p<0.05). Conclusion: The levels of enzymes AST and ALT have been elevated statistically significant in VPA group and GGT in CBZ group.