Papers by Ruzica Kravljanac
The Cerebellum, Nov 26, 2023
Clinical Neurophysiology, 2007
rosis. In four patients (19%) the cause of PN was traumatic, while in three (14%) idiopathic. Sig... more rosis. In four patients (19%) the cause of PN was traumatic, while in three (14%) idiopathic. Significant improvement was noted in 15 (71%) of the 21 peroneal palsies. Conclusions: In most children, a good recovery of PM is expected. Children with a chronic progressive peroneal neuropathy or a postfracture PM not improved in 3 months may require further exploration.
Medicinska istrazivanja
Introduction: Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, neurodegenerativ... more Introduction: Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, neurodegenerative disease with poor outcome. Anti-measles vaccination contributed to a decreasing number of SSPE patients, but not to its eradication. The aim of our study is to evaluate the course of the disease in our SSPE patients with a focus on vaccinated children. The main goal is considering possibilities for improving prevention of the disease. Methods: A retrospective study included the patients with SSPE treated in the period from December 2010 to December 2020 at the Pediatric Clinic of the Institute. The inclusion criteria were the patients with the diagnosis of SSPE based on clinical presentation, neuroimaging, electroencephalography and positive IgG anti-measles antibodies, both in serum and CSF. Results: Five children with fulminant course of SSPE were included. All these patients were suffering from measles at an early age. Three of them had been vaccinated against measles and two had no...
Expert Review of Neurotherapeutics, Mar 4, 2021
ABSTRACT Introduction Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric ne... more ABSTRACT Introduction Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early-onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression. An enzyme replacement therapy (cerliponase alfa) is now available, adding CLN2 disease to the list of potentially treatable disorders requiring a prompt diagnosis. Areas covered Although advances in enzymatic activity testing and genetic testing have facilitated diagnoses of CLN2 disease, our review highlights the presenting symptoms that are vital in directing clinicians to perform appropriate tests or seek expert opinion. We also describe common diagnostic challenges and some potential misdiagnoses that may occur during differential diagnosis. Expert opinion An awareness of CLN2 disease as a potentially treatable disorder and increased understanding of the key presenting symptoms can support selection of appropriate tests and prompt diagnosis. The available enzyme replacement therapy heralds an even greater imperative for early diagnosis, and for clinicians to direct patients to appropriate diagnostic pathways.
Molecular Genetics and Metabolism, 2020
priorities included vision, seizures, dementia, motor/mobility, and mood. These aligned well with... more priorities included vision, seizures, dementia, motor/mobility, and mood. These aligned well with the UBDRS core symptoms, indicating that these symptoms are meaningful to families of affected children. CLN3 disease progresses in a characteristic manner at a predictable rate based on time and sequence of meaningful core symptom onset. It also supports the possible use of a time-to-event analysis in experimental therapeutics. Used in combination with measures of symptom severity, these data contribute to a comprehensive picture of CLN3 disease natural history.
Cilj: Neuronska ceroidna lipofuscinoza pripada skupini lizosomskih poremećaja, obuhvaća četrnaest... more Cilj: Neuronska ceroidna lipofuscinoza pripada skupini lizosomskih poremećaja, obuhvaća četrnaest tipova bolesti i najčešća je neurodegenerativna bolest u djetinjstvu. Cilj je ove publikacije da se liječnici upoznaju s načinom i značenjem ranog otkrivanja oboljelih od NCL-a. Metode: Analiza literature i podataka iz povijesti bolesti pacijenata liječenih u Institutu tijekom posljednjih 20 godina. Rezultati: Glavna karakteristika NCL-a je progresivni tijek bolesti koji zahvaća motoričko i kognitivno propadanje, epileptičke napadaje, a zbog zahvaćanja retine dolazi do progresivnog slabljenja vida sve do sljepila. Postoji genotipsko-fenotipska korelacija uzrasta i početka ispoljavanja bolesti, brzina progresije, težine i kontrole epilepsije, izraženost psihijatrijskih poremećaja itd. Također postoji korelacija između genske mutacije i načina na koji se raspoređuju depoziti lipofuscina u stanici, a koji se vide elektronskim mikroskopom. Liječenje djece oboljele od neuronske ceroidne lipo...
Clinical Neurophysiology, Apr 1, 2007
Background: Cardiac reoperation has always been a difficult problem in clinical practice. Because... more Background: Cardiac reoperation has always been a difficult problem in clinical practice. Because of the difficulty of operation, the incidence of complications and mortality rate is high. Secondary aortic surgery, especially the reoperation involving arch, has higher risk and is more difficult for patients with renal failure. Sun's operation (total arch replacement þ stent elephant nose) has achieved good results in the treatment of diseases involving aortic arch, and occupies an important position in the treatment of patients with secondary arch lesions after cardiac surgery. Methods: A total of 395 patients with a history of cardiac surgery were recorded in our center from January 1, 2009 to December 31, 2017, among whom 118 (30.1%) patients underwent aortic reoperation via the original incision using Sun's aortic procedure owing to postoperative great vessel disease. We analyzed the clinical data and survival time, and used Cox regression to analyze the risk factors for 30day mortality as well as long term mortality. Results: The interval between the last operation and the present operation was 0.08e19 years. Sixteen patients died within 30 days after operation and the average mortality rate was 13.6%. During the followup period, 28 patients died, with the mortality rate of 23.7%. As of December 31, 2017, the longest survival time was 9.36 years, and the survival time of 70 patients was more than 3.05 years. The main risk factor associated with the 30-day survival was cardiopulmonary bypass (CPB) time. The longer the CPB time was, the greater the risk of death was. The main risk factors associated with the long-term survival were CPB time and 24-h bleeding volume. The longer the CPB time was, the more the 24-h bleeding volume was, the higher long-term mortality rate was. Conclusion: The second Sun's operation, as a surgical treatment after cardiac surgery, showed a high survival rate, with long survival time and good curative effect. CPB is the main risk factor for the 30-day survival state after operation, and CPB time and 24-h bleeding volume are the main risk factors for the long-term survival state after operation.
Clinical Neurophysiology, Sep 1, 2015
noted that although EMG examination provides accurate facts about the presence and severity of fu... more noted that although EMG examination provides accurate facts about the presence and severity of functional nerve damage, this method cannot provide any insight into the anatomy of the nerves, or the state of the surrounding tissue. Thus, there is a need to have additional diagnostic procedure besides EMG that would enable the full insight into a peripheral nerve. For the last two decades, there is a clear trend for more frequent use of ultrasound (US) in the diagnosis and monitoring of various diseases of the peripheral nerves. Indications for the US in peripheral nerve disorders are numerous, but this method is often applied in suspected compressive mononeuropathy, traumatic nerve damage (especially of the brachial plexus), in rare primary nerve tumors and in neurocutaneous diseases, as well as some immune-mediated neuropathies. The lecture will present the basic ultrasound principles in the diagnosis of these disorders, with illustrative examples from clinical practice.
Seizure-european Journal of Epilepsy, Dec 1, 2018
Evaluation of the etiology, clinical characteristics and outcome of the first status epilepticus ... more Evaluation of the etiology, clinical characteristics and outcome of the first status epilepticus (fSE) event in children. Method: The patients with fSE hospitalized in our Institute from 1995 to 2011 were included. The etiology was characterized as either known (symptomatic) or unknown (cryptogenic). Outcome was assessed at the end of hospitalization. Logistic regression analyses were used to assess predictors of the outcome, with odds ratio adjusted by age as a measure effect. Results: The study included 236 patients with a median age of 2.0 years (IQR 4.0). Etiology was identified as secondary to: defined electroclinical syndromes 108 (45.8), acute symptomatic conditions 63 (26.7%), unknown 24 (10.1%), progressive encephalopathy 23 (9.7%), or remote symptomatic 18 (7.6%). Recurrence rate was 16.9%, neurological consequences were in 24.6% and case-fatality ratio was 4.7%. The main predictors were for: a) deathprogressive encephalopathy (OR = 14.68, 95% CI 4.06-23.11. p = 0.001); b) neurological sequelaeacute symtomatic (OR 3.44, 95% CI 4.82-6.47) p = 0.001, remote symptomatic (OR = 13.84, 95% CI 4.34-44.12. p = 0.001), progressive encephalopathy (OR = 3.94, 95% CI 1.64-9.56. p = 0.002), seizure duration >60 min (OR = 0.44, 95% CI 0.24-0.81. p = 0.001); c) seziure recurrenceacute symptomatic etiology (OR = 3.59, 95% CI 41.76-7.21. p = 0.001), seizure duration >60 min (OR = 0.30, 95% CI 0.15-0.61. p = 0.001). Conclusions: In children with fSE, exploring acute disorders and immediate etiological treatment is essential. The outcome of fSE is favorable concerning the recurrence rate, while neurological sequelae are seen in one quarter of the patients. The etiology and fSE duration are the main determinants of outcome.
Pediatric Neurology, Jul 1, 2003
From 1972 to 2002, we diagnosed and treated 22 cases of subacute sclerosing panencephalitis. We r... more From 1972 to 2002, we diagnosed and treated 22 cases of subacute sclerosing panencephalitis. We report on two pediatric patients with fulminant subacute sclerosing panencephalitis who had atypical clinical manifestations. In both patients diagnosis was confirmed by elevated titers of CSF and serum antimeasles antibodies. Patient 1 presented with behavioral disorder, dysarthria, and drop attacks, while Patient 2 presented with
Clinical Neurophysiology, Jul 1, 2012
disorder). PSG is indicated for the diagnosis and follow up of sleep related breathing disorder (... more disorder). PSG is indicated for the diagnosis and follow up of sleep related breathing disorder (SRBD) and titration of CPAP; diagnosis of narcolepsy followed by MSLT; evaluation of atypical or injurious behaviors usually in seizures and parasomnias (e.g., RBD); evaluation of periodic limb movements in sleep (PLMS) or insomnia resistant to therapy; PSG is not routinely indicated: if there is a clear diagnosis of typical and non-injurious parasomnia; seizure disorders with no signs and symptoms consistent with a sleep disorder; in the diagnosis, and treatment of restless legs syndrome; for the diagnosis of circadian rhythm sleep disorders; PSG and MSLT are not routinely indicated for the diagnosis of depression.
European Journal of Paediatric Neurology, Sep 1, 2013
European Journal of Paediatric Neurology, Sep 1, 2022
Epilepsy & Behavior, Dec 1, 2020
The aim of the study was to explore whether diagnosis and managing children with progressive myoc... more The aim of the study was to explore whether diagnosis and managing children with progressive myoclonus epilepsy (PME) were improved during the last decade. Methods: The retrospective study included children with PME treated in the Institute during the last 25 years. Investigation time was divided in two periods (groups): before December 2010 (the first group) and after this period up to December 2019 (the second group). Inclusion criteria are as follows: patients aged from 0.2-18 years and with PME. Evaluated parameters are etiology, age at seizure onset, diagnosis delay, epilepsy phenotype, and, as a measure of epilepsy control-status epilepticus (SE) frequency and recurrence rate. Statistical analysis included the following tests: Chi-Square, Mann-Whitney, and analysis of variance (ANOVA), using SPSS version 25. Results: The study included 51 patients, 27 in the first, and 24 in the second group. The underlying diseases were: neuronal ceroid lipofuscinosis (NCL; 30), Gaucher (5), Niemann-Pick (4), mitochondrial (4), Lafora (3), Krabbe (2), and KCNC1 gene mutation (2). The average duration from initial symptoms to diagnosis was 3.2 ± 3 years (first group) vs. 1.4 ± 0.9 years (second). Both SE frequency rate (55.5% vs. 37.5%) and recurrence rate (66.7% vs. 22.2%) were higher in the first group, showing tendency towards, but not statistically significant difference. Conclusion: The diagnosis and epilepsy managing children with PME were improved during the last decade. Earlier genetic diagnosis, appropriate antiseizure medications, education of parents/caregivers of children in high risk for SE, and availability of effective prehospital rescue medications contributed to significantly decreased frequency and recurrence rate of SE.
Epilepsy & Behavior, Jul 1, 2018
The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in... more The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). Method: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges. The outcome of NS was assessed at the end of the follow-up period and was categorized as one of the following: (1) lethal outcome, (2) neurological abnormalities, (3) intellectual disability, and (4) epilepsy. Univariate and multivariate logistic regression analyses were used to assess predictors of NS outcome. Results: The study included 168 children with NS (of which 109 are males, and 59 are females), mean aged 5.6 (SD 3.5) years at the end of the follow-up (with a range of 1 to 12 years). There was normal neurological development without epilepsy in 131 patients (78%), neurological abnormality in 31 (19.0%), intellectual disability in 28 (17.2%), epilepsy in 12 (7.4%), and lethal outcome in 7 patients (4.17%). Conclusions: Long-term outcome in children with NS could be favorable in most patients, and it appears to be related to specific early clinical and paraclinical variables. Newborns with an abnormal background EEG activity, with seizures resistant to antiepileptic drugs and/or low Apgar score are at a higher risk of a poor outcome. Females are at a much higher risk of lethal outcome than males.
Objectives: The aim of our study is to define the most frequent etiology, clinical presentation, ... more Objectives: The aim of our study is to define the most frequent etiology, clinical presentation, and predictive factors of outcome in children with acute ataxia (AA) and to determine “the red flags” in the diagnostic approach to children with AA. Methods: The retrospective study included the patients with AA treated in Institute from 2015 - 2021. The inclusion criteria were: children aged 1 - 18 years; evolution time of ataxia within 72 hours, diagnosis made by a physician. The exclusion criteria were: anamnestic data about ataxia without confirmation by any physician; chronic/persistent ataxia; psychogenic or postictal ataxia. Clinical presentation was divided into two categories: 1. isolated cerebellar signs (CS): ataxic gait, dysmetria, dysdiadochokinesia, intention tremor, dysarthria, and nystagmus; 2. CS-plus symptoms which included CS associated with any of other symptoms such as encephalopathy (GCS <15), awareness disturbances, vomiting, headache, a new onset limb or facia...
Genes
Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explain... more Background: Clinical course variability in Duchenne muscular dystrophy (DMD) is partially explained by the mutation location in the DMD gene and variants in modifier genes. We assessed the effect of the SPP1, CD40, and LTBP4 genes and DMD mutation location on loss of ambulation (LoA). Methods: SNPs in SPP1-rs28357094, LTBP4-rs2303729, rs1131620, rs1051303, rs10880, and CD40-rs1883832 were genotyped, and their effect was assessed by survival and hierarchical cluster analysis. Results: Patients on glucocorticoid corticosteroid (GC) therapy experienced LoA one year later (p = 0.04). The modifying effect of SPP1 and CD40 variants, as well as LTBP4 haplotypes, was not observed using a log-rank test and multivariant Cox regression analysis. Cluster analysis revealed two subgroups with statistical trends in differences in age at LoA. Almost all patients in the cluster with later LoA had the protective IAAM LTBP4 haplotype and statistically significantly fewer CD40 genotypes with harmful T ...
Srpski arhiv za celokupno lekarstvo
Introduction/Objective. Acute disseminated encephalomyelitis (ADEM) is the most common demyelinat... more Introduction/Objective. Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disease of the central nervous system in pediatric patients. We aimed to evaluate the clinical profile of children with ADEM and to discern prognostic factors for disease outcome. Methods. A 20-year retrospective?prospective study was conducted in a cohort with the diagnosis of ADEM. Results. The study included 36 patients, with range of follow-up period of 6?120 months (median of 26 months). Prior infection was reported in 72.2% of the patients. In the clinical presentation of the disease, motor deficit was most common (81.1%), followed by ataxia (77.8%). More than a third of patients had back and limb pain or abdominal visceral pain, which highly correlated with MRI findings of myelitis. Abnormal brain CT findings were evident in 22.2% of the patients, and this was associated with higher Expanded Disability Status Scale (EDSS) and quicker progression of the disease. Median EDSS was...
Mediterranean Journal of Hematology and Infectious Diseases, 2022
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Papers by Ruzica Kravljanac