Browsing by Author "Kravljanac, Ružica (6506380739)"

Introduction/Objective Acute disseminated encephalomyelitis (ADEM) is the most common demyelinat-ing 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 0 at the most recent follow-up visit, in all the patients. EDSS 0–2.5 was verified in 29 (80.6%) of the patients, while three (8.3%) patients scored 7–9.5 at the last visit. Two patients had a lethal outcome. Conclusions ADEM is a serious disease in pediatric patients, but with a good prognosis, which is illustrated by the fact that 80.6% of our patients had a complete or almost complete recovery. © 2022, Serbia Medical Society. All rights reserved.

Introduction: Paroxismal events can resemble epileptic seizures, however, some epileptic seizures, especially benign occipital childhood epilepsies can imitate migraine, cycling vomiting or encephalitis. Objective: The aim of this study was evaluation of clinical and electroencephalographic (EEG) features and outcome in children with benign occipital childhood epilepsies. Methods: Investigation included 18 patients with benign occipital childhood epilepsies hospitalized in the period from 2007 to 2010. The diagnosis was based on clinical and EEG characteristics of seizures, while treatment included acute therapy for seizures and chronic antiepileptic drugs. Prognosis was analyzed in terms of neurological outcome and seizure recurrence rate. Results: Benign occipital childhood epilepsy with early onset was diagnosed in 15 children. Vegetative symptoms, mostly ictal vomiting (13), eye deviation and loss of consciousness (13) dominated in the clinical presentation. The most frequent EEG findings showed occipital epileptic discharges. Benign occipital childhood epilepsy with late onset was diagnosed in three cases. Seizures were manifested by visual hallucinations, headache and secondary generalized convulsions. All three patients were administered chronic antiepileptic drugs and had good outcome. Conclusion: In our patients, clinical manifestations of benign occipital epilepsies had some similarities with clinical features of migraine and encephalitis. It could explain misdiagnosis in some of them. Knowledge about main features and differences between each of these disorders is crucial for making appropriate diagnosis.

Introduction Infantile hemiconvulsion–hemiplegia and epilepsy (IHHE) syndrome is defined as a spe-cific syndrome in patients < 2 years of age, presenting as a new onset refractory status epilepticus with unilateral motor seizures and acute imaging abnormalities, fever, hemiparesis > 24 hours, and excluding infectious encephalitis. Case outline We present the results of a follow-up in a 11-year-old girl with IHHE, associated with GRIN2A mutation. The girl had normal development until the first febrile hemiconvulsive status epilepticus at the age of seven months. Neuroimaging initially showed right hemisphere edema, followed by progressive right side hemiatrophy. The patient has resistant epilepsy, left side hemiparesis, and good language and cognitive development. Conclusion Despite IHHE described many years ago, some syndrome’s features, including etiology, have remained unexplained. The association between IHHE and GRIN2A mutation stated in the current manuscript is described in scientific literature for the first time. © 2021, Serbia Medical Society. All rights reserved.

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. © 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

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. © 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

Neonatal encephalopathy is a manifestation of acute neurological disorder in newborn infants and is commonly presented with decreased level of consciousness (lethargy or comma) and seizures. Etiology of neonatal encephalopathy is versatile. The most common cause is hypoxic-ischemic encephalopathy which is a cause of more than 50% of cases of neonatal encephalopathy. Other causes include infections, inborn errors of metabolism, cerebrovascular infarcts, bilirubin induced neurological disfunction, va-rious neurodegenerative disorders and epileptic syndromes. Because of a wide spectrum of etiology, newborn with encephalopathy must be carefully examined and immediate laboratory analysis, electroencephalographic and neuroradiological investigation must be performed, as well as further specific investigation if needed. Management of newborn with acute neurological disorder consists of stabilization of vital parameters, symptomatic therapy which includes correction of hypoglycemia, electrolyte disturbances, aci-dosis and anemia and treatment of seizures. Specific therapy of neonatal encephalopathy depends on etiology, so multidisciplinary team of pediatric specialists is commonly involved in diagnostic and therapeutic procedures. In many cases of neonatal encephalo-pathy, prompt diagnosis can be life-saving. © 2021, Croatian Paediatric Society. All rights reserved.

Introduction Coronavirus disease-2019 (COVID-19) usually leads to a mild infectious disease course in children, but serious neurological complications have been described in association with both acute infection and the multisystem inflammatory syndrome in children (MIS-C). Cerebrovascular disorders (CVD) in children are rare complication of MIS-C, and various potential mechanisms of CVD in MIS-C have been hypothesized. Case outline In an eight-year old girl, diagnosis of MIS-C was made according to clinical features of prolonged fever, circulatory shock, heart and renal insufficiency, skin abnormalities, conjunctival hyperemia, and stomach pain associated with laboratory findings (increased CRP, D-dimers, pro BNP, troponins, IL-6), supported by positive contact with SARS-CoV2 one month before the disease onset and increased IgG and IgM anti-SARS-CoV2 antibodies. From the second day of hospitalization, left-side hemiplegia was observed, and using brain CT and MR, CVD was diagnosed. Together with cardiovascular support, corticosteroids and intravenous immunoglobulin were administered. On the fourth day of hospitalization, diagnosis of cerebral salt wasting syndrome (CSWS) was made according to severe dehydration, polyuria, hyponatremia, increased natriuria, and increased urine: serum osmolality ratio. CSWS had very severe course lasting more than one month. The girl was discharged with stable vital signs, normal diuresis and hemiparesis. Conclusion This is the first case in the literature presenting association of severe CSWS and CVD in a child with MIS-C after COVID-19. © 2024, Serbia Medical Society. All rights reserved.

[No abstract available]

Introduction Hemorrhagic shock and encephalopathy syndrome (HSES) is a rare disorder with prevalence at an early age. The main features of HSES are acute diarrhea, shock, disseminated intravascular coagulation, multisystem impairment, and encephalopathy. The prognosis is very poor, with high mortality, especially in cases with status epilepticus. Case outline The presented infant had typical features of HSES associated with super-refractory status epilepticus as de novo epileptic event, followed by pharmacoresistant epilepsy. Clinical course of the disease was very severe and required urgent circulatory and respiratory support, and simultaneous management of super-refractory status epilepticus by continuous intravenous infusion of midazolam, barbiturate, and levetiracetam. The outcome was very poor with serious neurological consequence and resistant epileptic seizures. Conclusion The treatment of the presented patient with HSES was very challenging due to a lifethreatening condition associated with super-refractory status epilepticus, and further pharmacoresistant epilepsy. Additionally, the choice of antiepileptic drugs is limited due to multisystem impairment and adverse effects which might worsen the already severe course of the disease. © 2021, Serbia Medical Society. All rights reserved.

Purpose: The aim of this study was to evaluate the predictive value of the features of neonatal seizures for pharmacoresistant epilepsy in children. Method: This is a retrospective study that involved all children diagnosed as having epilepsy who had neonatal seizures and who were hospitalized at the Neurology Department of the Mother and Child Healthcare Institute in Belgrade from January the 1st 2017 until December 31st 2017. The following parameters and their impact on the outcome were investigated: perinatal data, the characteristics of epileptic seizures in the neonatal period, and the response to anticonvulsant treatment. The presence of pharmacoresistance was observed as an outcome parameter. Univariate and multivariate logistic regression analyses were used to define predictors of drug-resistant epilepsy. Results: The study involved 55 children, 35 (63.6%) male and 20 (36.4%) female. The average age of the children at the end of the observation period was 5.17 years (min: 0.25, max: 17.75, iqr (interquartile range): 6.92). Pharmacoresistant epilepsy was found in 36 (65.5%) children. The most common type of epilepsy was focal, which affected 30 patients (54.5%), than generalized, which affected 15 patients (27.3%), and combined generalized and focal, which affected 8 patients (14.5%). At the end of the observation period, 28 patients (50.9%) had no seizures, while 14 (25.5%) had daily seizures. It was found that the pharmacoresistant neonatal seizures and metabolic–genetic disorders were predictive factors of the occurrence of pharmacoresistant epilepsy. Conclusion: Patients prone to developing pharmacoresistant epilepsy might be identified as early as the neonatal and early infant period. High incidence of asphyxia cooccurring with established genetic–metabolic disease further emphasizes need for genetic testing in infants with neonatal seizures including in the presence of hypoxic–ischemic injury. © 2020 Elsevier Inc.

Purpose: The aim of this study was to evaluate the predictive value of the features of neonatal seizures for pharmacoresistant epilepsy in children. Method: This is a retrospective study that involved all children diagnosed as having epilepsy who had neonatal seizures and who were hospitalized at the Neurology Department of the Mother and Child Healthcare Institute in Belgrade from January the 1st 2017 until December 31st 2017. The following parameters and their impact on the outcome were investigated: perinatal data, the characteristics of epileptic seizures in the neonatal period, and the response to anticonvulsant treatment. The presence of pharmacoresistance was observed as an outcome parameter. Univariate and multivariate logistic regression analyses were used to define predictors of drug-resistant epilepsy. Results: The study involved 55 children, 35 (63.6%) male and 20 (36.4%) female. The average age of the children at the end of the observation period was 5.17 years (min: 0.25, max: 17.75, iqr (interquartile range): 6.92). Pharmacoresistant epilepsy was found in 36 (65.5%) children. The most common type of epilepsy was focal, which affected 30 patients (54.5%), than generalized, which affected 15 patients (27.3%), and combined generalized and focal, which affected 8 patients (14.5%). At the end of the observation period, 28 patients (50.9%) had no seizures, while 14 (25.5%) had daily seizures. It was found that the pharmacoresistant neonatal seizures and metabolic–genetic disorders were predictive factors of the occurrence of pharmacoresistant epilepsy. Conclusion: Patients prone to developing pharmacoresistant epilepsy might be identified as early as the neonatal and early infant period. High incidence of asphyxia cooccurring with established genetic–metabolic disease further emphasizes need for genetic testing in infants with neonatal seizures including in the presence of hypoxic–ischemic injury. © 2020 Elsevier Inc.