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1.
Neurocase ; 28(2): 239-245, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-35672904

RESUMO

Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a rare autoimmune entity in psychiatry literature that occurs when antibodies attack NMDA-type glutamate receptors in the brain. Principle clinical features include a neurological domain such as seizure, orofacial dyskinesia, dystonia, and choreic-like movements of extremities. Also the psychiatric manifestations of this form of encephalitis may vary from psychotic-like symptoms to mood symptoms like depression or mania. Herein we report on five female child cases diagnosed with anti-NMDAR encephalitis, presented with both neurological and psychiatric clinical picture, and highlight the trajectory of disorder from a psychiatric perspective.


Assuntos
Encefalite Antirreceptor de N-Metil-D-Aspartato , Psiquiatria Infantil , Encefalite Antirreceptor de N-Metil-D-Aspartato/complicações , Encefalite Antirreceptor de N-Metil-D-Aspartato/diagnóstico , Encéfalo , Criança , Feminino , Humanos , Receptores de N-Metil-D-Aspartato , Convulsões
2.
Neurol Sci ; 42(1): 183-191, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32592101

RESUMO

PURPOSE: Sulthiame (STM) has been recommended as an effective antiepileptic drug (AED) in children with epileptic encephalopathy with status epilepticus in sleep (ESES). The aim of this study is to evaluate the efficacy of STM add-on treatment in children with pattern of ESES with respect to the etiologic subgroup. METHODS: Twenty-nine children with ESES pattern with three different etiologic subgroups (epileptic syndromes: 14, structural/infectious: 9, unknown: 6) who were given STM as add-on treatment were included into the study. The efficacy of STM was evaluated in terms of seizure control, electroencephalography (EEG) findings, need of the new AEDs after add-on STM, and behavioral and cognitive improvement. RESULTS: The range of the follow-up duration after add-on STM treatment was between 5 and 51 months. At the end of 1 year of STM treatment, the most successful electrophysiologic improvement was identified in the well-defined epileptic syndrome group; epileptic syndrome, 71.4% (10/14); structural/infectious, 33.3% (3/9); and unknown, 0% (0/6). Patients who had complete response or persistent ESES pattern at the 3rd month were still in the same condition at the 6th and 12th months. However, the ESES pattern reappeared in 35.2% of the patients who had partial electrophysiological improvement at the 3rd month. In the epilepsy syndrome group, eight out of ten patients who had either complete or partial EEG response after 1 year of STM treatment displayed behavioral and cognitive improvement. CONCLUSION: Sulthiame might be a valid add-on treatment of ESES especially in children with epilepsy syndromes.


Assuntos
Transtornos do Sono-Vigília , Estado Epiléptico , Tiazinas , Anticonvulsivantes/uso terapêutico , Criança , Eletroencefalografia , Humanos , Estudos Retrospectivos , Sono , Transtornos do Sono-Vigília/tratamento farmacológico , Estado Epiléptico/tratamento farmacológico , Tiazinas/uso terapêutico
3.
Klin Padiatr ; 233(4): 173-180, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33694152

RESUMO

BACKGROUND: Breath-holding spells (BHS) are common non-paroxysmal events with unknown pathophysiology. BHS have been associated not only with iron deficiency anemia (IDA) but also with oxidant/antioxidant imbalance and erythrocyte injury induced by hypoxia. The present study was designed to investigate the contribution of IDA in BHS and the oxidant/antioxidant balance in children with or without IDA in BHS and compare them with healthy controls.Additionally, the study also aimed to examine the effect of the frequency of BHS attacks (mild or severe) on the oxidant/antioxidant balance and to determine the best predictive oxidant and antioxidant markers. MATERIALS AND METHODS: The study included 66 children with BHS aged 6-48 months who had been followed up for a minimum period of one year between 2014 and 2018. A control group of 30 age- and gender-matched healthy children was included in the study. The patient group was divided into 2 groups (IDA and non-IDA) and these groups were compared between each other and also with the control group. The IDA group was divided into subgroups based on the frequency of BHS attacks. Blood samples were obtained within a maximum period of 24 h following the spell. Levels of protein carbonyl, nitrite, nitrate, TOS, TAS, OSI, MDA, enzyme activities of GPx, CAT,enzyme activities of erythrocyte SOD, CAT, and GPx, and the level of MDA were measured. RESULTS: In patients with IDA, the oxidant levels increased while the antioxidant enzyme activities decreased. In all patients, the levels of MDA, carbonyl, TOS, OSI increased and the levels of TAS, activities SOD, and CAT decreased, whereas the enzyme activities of erythrocyte SOD, CAT, GPx decreased significantly compared to those of control group. Increased of erythrocyte MDA levels had 10.32, decreased enzyme activities of erythrocyte SOD levels had a 10.25, and decreased enzyme activities of erythrocyte CAT had a 5.33 times greater risk for spell. CONCLUSION: The results indicated that the oxidant/antioxidant balance in children with BHS was impaired in favor of oxidants at both levels, regardless of the presence of IDA and the increased frequency of BHS attacks per day. Moreover, the presence of IDA was found to be associated with increased oxidative stress in children with BHS, particularly at the erythrocyte level. Erythrocyte level; among the erythrocyte MDA oxidant parameters, erythrocyte SOD and antioxidant parameters, they are the biomarkers that show the best probability of having a BHS attack and an increase in the frequency of apnea attacks.


Assuntos
Anemia Ferropriva , Estresse Oxidativo , Anemia Ferropriva/diagnóstico , Antioxidantes , Biomarcadores , Criança , Eritrócitos , Humanos
4.
Acta Clin Croat ; 58(2): 295-302, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31819326

RESUMO

Vitamin B12 is one of the essential vitamins that affect various systems in the body, including the central nervous system. Vitamin B12 plays an important part in the metabolism of the nervous system, although its exact role under pathological conditions is not fully understood. The purpose of this study was to emphasize the importance of early diagnosis of vitamin B12 deficiency in the light of the characteristics of the patients enrolled. This retrospective, clinical study included 38 children with neurological symptoms of vitamin B12 deficiency. Records of 38 patients referred to a single center of the university hospital outpatient child neurology clinic due to neurological symptoms of vitamin B12 deficiency between February 2012 and December 2013 were evaluated retrospectively. Patients aged 0-18 years with symptoms including syncope, dizziness, convulsion, hypotonia, developmental retardation, tremor, ataxia, tingling sensations and paresthesia, blurring of vision, fatigue and concentration difficulty caused by vitamin B12 deficiency were included in the study. Patient neurological findings included syncope (n=6), dizziness (n=4), hypotonia (n=9), inability to sit or walk without support, or gait ataxia (n=2), convulsion (n=4), hand tremor (n=1), tingling sensations and paresthesia (n=3), vision blurring (n=1), fatigue and concentration difficulty (n=8). All patients with neurological symptoms of vitamin B12 deficiency recovered within one month after vitamin B12 supplementation. In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries.


Assuntos
Doenças do Sistema Nervoso/etiologia , Deficiência de Vitamina B 12/complicações , Deficiência de Vitamina B 12/diagnóstico , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Tontura/etiologia , Diagnóstico Precoce , Fadiga/etiologia , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Vitamina B 12/uso terapêutico , Deficiência de Vitamina B 12/tratamento farmacológico , Vitaminas/uso terapêutico
5.
Neurol Sci ; 39(11): 1977-1980, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30094525

RESUMO

Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. With whole-exome sequencing, we identified a homozygous WWOX missense mutation, p.Leu239Arg, in a girl from a consanguineous family with psychomotor developmental delay, acquired microcephaly, and epileptic seizures. WWOX-related epileptic encephalopathy is a rare condition but it should be considered in cases having early epileptic spasms and parental consanguinity.


Assuntos
Encefalopatias/genética , Encefalopatias/fisiopatologia , Estudos de Associação Genética , Mutação/genética , Oxidorredutase com Domínios WW/genética , Feminino , Humanos , Lactente
6.
Epilepsy Behav ; 51: 221-4, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26298867

RESUMO

AIM: The negative effect of antiepileptic drugs on bone health has been previously documented. However, which antiepileptic drug is safer in regard to bone health is still questionable. Our aims were to investigate the bone mineral density alterations in pediatric patients who receive antiepileptic medication for a minimum of two years and to compare the results of these drugs. MATERIALS AND METHODS: Fifty-nine patients (32 males, 27 females; mean age: 8.6±4.6years) and a control group (13 males, 7 females; mean age: 7.6±3.3years) were included in the study. The patients were receiving necessarily the same antiepileptic drugs (AEDs) for at least two years, and none of the patients had mental retardation or cerebral palsy. The patients were divided into three groups: group 1 (patients receiving levetiracetam (LEV), n=20), group 2 (patients receiving carbamazepine (CBZ), n=11), and group 3 (patients receiving valproic acid (VPA), n=28). Plasma calcium (Ca), phosphorus (P), parathyroid hormone (PTH), alkaline phosphatase (ALP), vitamin D levels, and bone mineral density (BMD) values of femur and vertebras (L1-4) and z-scores (comparative results of BMD values of the patients with the age- and gender-matched controls in device database) of the groups were compared. RESULTS: The differences between P, PTH, ALP and age, Ca and BMD results, and vitamin D levels of the patients in all four groups was not statistically significant according to Kruskal-Wallis test (p>0.05). The z-score levels of all the patient and control groups were also not statistically significantly different compared with each other. CONCLUSION: In contrast to previous reports in pediatric patients, our study has documented that there is not a considerable bone loss in patients receiving long-term AED medication. Although levetiracetam has been proposed as bone-protecting medication, we did not observe any difference between AEDs regarding bone mineral density after two years of treatment.


Assuntos
Anticonvulsivantes/efeitos adversos , Densidade Óssea/efeitos dos fármacos , Carbamazepina/efeitos adversos , Piracetam/análogos & derivados , Ácido Valproico/efeitos adversos , Fosfatase Alcalina/sangue , Anticonvulsivantes/uso terapêutico , Cálcio/sangue , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Levetiracetam , Masculino , Hormônio Paratireóideo/sangue , Fósforo/sangue , Piracetam/efeitos adversos , Piracetam/uso terapêutico , Ácido Valproico/uso terapêutico , Vitamina D/sangue
7.
Pediatr Neurol ; 157: 100-107, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38905742

RESUMO

BACKGROUND: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era. METHODS: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131). RESULTS: An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%. CONCLUSIONS: The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%).


Assuntos
Testes Genéticos , Sequenciamento de Nucleotídeos em Larga Escala , Espasmos Infantis , Humanos , Espasmos Infantis/genética , Espasmos Infantis/diagnóstico , Lactente , Masculino , Feminino , Estudos de Coortes
8.
Acta Neurol Belg ; 123(1): 121-127, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-34002331

RESUMO

Cerebral folate deficiency (CFD) syndrome is a rare treatable neurometabolic disorder with low levels of the active form of folaten in cerebrospinal fluid (CSF) arising from different causes such as FOLR1 gene mutations or autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus. It is characterized by late infantile onset refractory seizures, ataxia, movement disorder, and unexplained global developmental delay. Here, we report a patient diagnosed with autistic spectrum disorder, followed by refractory myoclonic-atonic seizures, ataxia, and loss of motor skills over time. A homozygous missense (c.665A > G) mutation in FOLR1 gene and extremely low CSF 5-methyltetrahydrofolate level led to the diagnosis of CFD. Although she was initiated on combined oral and intravenous high doses of folinic acid treatment at 6 years of age, mild improvement was achieved in terms of epileptic seizures and motor skills. It is important that CFD should be kept in mind in cases with refractory myoclonic-atonic seizure and folinic acid treatment should be started as soon as possible.


Assuntos
Deficiência de Ácido Fólico , Feminino , Humanos , Leucovorina/uso terapêutico , Leucovorina/genética , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/tratamento farmacológico , Deficiência de Ácido Fólico/genética , Mutação/genética , Ataxia , Receptor 1 de Folato/genética , Receptor 1 de Folato/uso terapêutico
9.
Epileptic Disord ; 25(2): 218-228, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37358927

RESUMO

OBJECTIVE: The aim of the study was to identify the predominant predictors of seizure relapse following discontinuation of ASM in epileptic children. METHODS: The study cohort consisted of 403 epileptic children who had a withdrawal process of ASM (monotherapy: 344; dual therapy or polytherapy: 59) after at least a 2-year seizure-free period. Patients were categorized if they had a well-defined epileptic syndrome. Epileptic children with ongoing ketogenic diet, vagal nerve stimulation, or surgery were excluded from the cohort due to the additional withdrawal process related to other therapy modalities. RESULTS: The cohort's seizure relapse rate was 12.7% (51/403). The highest rates of seizure relapse were defined for genetic etiology at 25% and structural etiology at 14.9%. An epilepsy syndrome was defined in 183 of 403 children (45.4%). There was no difference in the seizure relapse rate between the subgroups of well-defined epileptic syndromes; 13.8% for self-limited focal epileptic syndromes, 11.7% for developmental and epileptic encephalopathies, and 7.1% for generalized epileptic syndromes. Five predictors were defined as the most powerful predictors of seizure relapse in univariate analysis: age at epilepsy diagnosis >2 years (hazard ratio [HR]: 1.480; 95% confidence interval [CI]: 1.134-1.933), defined etiology (HR: 1.304; 95% CI: 1.003-1.696), focal seizure (HR: 1.499; 95% CI: 1.209-1.859), ≤3 months duration of the withdrawal process (HR: 1.654; 95% CI: 1.322-2.070), and a history of neonatal encephalopathy with or without seizures (HR: 3.140; 95% CI: 2.393-4.122). In multivariate analysis, the main predictor of seizure relapse was a history of neonatal encephalopathy with or without seizures (HR: 2.823; 95% CI: 2.067-3.854). SIGNIFICANCE: The duration of seizure freedom before discontinuation of ASM was not a predominant risk factor for seizure relapse: 2-3 years versus >3 years. The predictive values of five predictors of seizure relapse rate should be evaluated for patients with different epilepsy subgroups.


Assuntos
Epilepsia Generalizada , Epilepsia , Síndromes Epilépticas , Recém-Nascido , Humanos , Criança , Pré-Escolar , Anticonvulsivantes/farmacologia , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Epilepsia Generalizada/tratamento farmacológico , Síndromes Epilépticas/tratamento farmacológico , Recidiva
10.
Turk Arch Pediatr ; 58(2): 142-153, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36856351

RESUMO

OBJECTIVE: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis. MATERIALS AND METHODS: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, elect roenc ephal ograp hy features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities. Three scoring models were applied: the Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy for predicting autoimmune-related epilepsy in the whole cohort and the anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score for overall outcome in patients with anti-N-methyl-d-aspartate receptor encephalitis. RESULTS: The initial clinical spectrum of the disease was similar in the seronegative and seropositive groups. Almost half of the patients (48%) recovered without any complications with first-line immunotherapy. The patients with movement disorders in the acute phase of the disease needed more likely second-line immunotherapy (P = .039). The presence of status epilepticus at admission was significantly associated with adverse outcomes and the development of autoimmune-related epilepsy (P = .019). Autoimmune-related epilepsy was defined in an equal proportion of patients (91.5%) with 2 immune epilepsy scores (Antibody Prevalence in Epilepsy and Response to Immunotherapy in Epilepsy). The N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status score and the modified Rankin score assessed for the first-year prognosis were strongly correlated among the patients with anti-N-methyl-d-aspartate receptor encephalitis (P = .03, Spearmen's rho = 0.751). CONCLUSIONS: The presence of status epilepticus was the most important prognostic factor in the patients with the adverse outcome. The studied scoring models (Anti-N-methyl-d-aspartate receptor Encephalitis 1-Year Functional Status, Antibody Prevalence in Epilepsy, and Response to Immunotherapy in Epilepsy) have also been proven to be applicable to the pediatric age group for predicting overall outcome and autoimmune-related epilepsy.

11.
Acta Neurol Belg ; 121(1): 231-239, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33231843

RESUMO

Anti-myelin oligodendrocyte glycoprotein antibodies have been associated with a wide range of clinical presentations including monophasic and relapsing disease courses. Lack of a definitive marker for predicting further relapses and the final diagnoses complicates the clinical follow-up and treatment decisions for patients with the first episode. This study retrospectively analyzed the clinical spectrum, treatment protocols and outcome of nine children with MOG antibody-associated demyelinating disease. Diagnoses at first presentation were acute disseminated encephalomyelitis (ADEM) in six cases (67%), optic neuritis in two cases (22%), and clinically isolated syndrome in one case (11%). The disease remained monophasic in five (56%) cases. All cases with a monophasic disease course were negative for anti-MOG antibody titers in the third month. The initial diagnosis of all relapsing cases was ADEM. Three of the four cases with a relapsing disease course were available for anti-MOG antibody testing at the third month and all were positive, however, antibody titers at the sixth month were inconsistent. Cases with a relapsing disease course had no further attacks after monthly intravenous immunoglobulin treatment. Relapsing disease course is not rare in childhood MOG-antibody associated demyelinating disease. Monthly IVIG treatment may be a good alternative for the long-term treatment of relapsing cases with a low side effect profile. Anti-MOG antibody serostatus at remission periods should be interpreted cautiously. Further studies are needed to better understand and predict the clinical course of pediatric patients with MOG-antibody associated diseases.


Assuntos
Autoanticorpos/sangue , Doenças Desmielinizantes/sangue , Doenças Desmielinizantes/diagnóstico por imagem , Glucocorticoides/uso terapêutico , Glicoproteína Mielina-Oligodendrócito/sangue , Centros de Atenção Terciária , Criança , Pré-Escolar , Doenças Desmielinizantes/tratamento farmacológico , Feminino , Seguimentos , Glucocorticoides/farmacologia , Humanos , Masculino , Estudos Retrospectivos , Resultado do Tratamento
12.
Turk Arch Pediatr ; 56(3): 236-244, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34104915

RESUMO

OBJECTIVE: The study aimed to evaluate the patients with a diagnosis of cerebral sinovenous thrombosis in terms of clinical findings, etiology and underlying risk factors, imaging findings, treatment, and prognosis in the long term. MATERIALS AND METHODS: Medical records of 19 patients whose ages ranged between 0 days and 17 years with clinical and radiological cerebral sinovenous thrombosis in Ege University Department of Child Neurology were retrospectively evaluated. RESULTS: Nine of nineteen cases were female (47.3%). The median age was 84 months (0-201 months). The most common complaint at the presentation was headache (n=12) and the most common physical examination finding was papilledema (n=11). In etiology, otitis/mastoiditis in three cases, iron deficiency anemia in three cases, sinusitis in two cases, catheter use in four cases, Behçet's disease in three cases were determined. The most common observed genetic factors causing thrombosis was methylenetetrahydrofolate reductase mutation. The transverse sinus (68.4%) is the sinus where thrombosis is most frequently observed. As a result of an average follow-up of 12 months (2-72 months), hemiparesis (n=3/19, 15.7%) and epilepsy (n=5/19, 26.3%) were recorded as sequelae findings, and no mortality was observed. CONCLUSION: In cases presenting with headache, evaluation of papilledema on funduscopic examination should not be skipped. Neurological imaging should be performed in the change of consciousness of poor feeding infants and children with infections in the head and neck area or underlying chronic diseases. When cerebral sinovenous thrombosis is detected, anticoagulant therapy should be started immediately.

13.
Acta Neurol Belg ; 121(6): 1495-1503, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32424740

RESUMO

Appropriate treatment of neonatal seizures with an effective therapy is important in reducing long-term neurologic disabilities. Sixty-seven neonates, who received intravenous (IV) levetiracetam (LEV) as first-line therapy for treating seizures between 2013 and 2017 were evaluated retrospectively to investigate the efficacy of LEV and its neurodevelopmental outcome at 12 months of age. Of the 67 neonates (44 preterm and 23 term babies) evaluated for seizures, 55 (82%) had a defined etiology. EEG confirmation was obtained in 36 (57.1%) of the neonates with clinical seizures. On the 7th day of the treatment (mean seizure control time 7.4 ± 15.1 days), LEV was effective as monotherapy in 43 (64%), whereas add-on therapy was required in 24 (36%) neonates. At the 1-year follow-up, 76% of infants achieved drug-free state, nine (18%) infants remained on LEV monotherapy and three (6%) needed add-on therapy. Neurodevelopmental outcome of the infants was assessed with Ankara Development Screening Inventory and results suggested favorable neurodevelopmental outcome in 69.7% of the infants with at the end of the 1-year follow-up with LEV monotherapy. In conclusion, this retrospective cross-sectional study demonstrated that IV LEV is an effective first-line therapy for treating neonatal clinical seizures and LEV monotherapy effect was sustained during the first year follow-up.


Assuntos
Anticonvulsivantes/uso terapêutico , Desenvolvimento Infantil/efeitos dos fármacos , Recém-Nascido Prematuro/crescimento & desenvolvimento , Levetiracetam/uso terapêutico , Convulsões/tratamento farmacológico , Anticonvulsivantes/farmacologia , Desenvolvimento Infantil/fisiologia , Estudos Transversais , Eletroencefalografia/métodos , Seguimentos , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/tratamento farmacológico , Doenças do Recém-Nascido/fisiopatologia , Levetiracetam/farmacologia , Estudos Retrospectivos , Convulsões/fisiopatologia , Resultado do Tratamento
14.
Sisli Etfal Hastan Tip Bul ; 54(2): 227-230, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32617064

RESUMO

OBJECTIVES: In this study, records of the children who underwent Computed Tomography of the Brain (CTB) were reviewed to increase the awareness of pediatricians to protect patients from radiation, whether CTB was used with right indications or if it was determinative for diagnosis. METHODS: In total, in this study, 342 cases applied to our Pediatric Emergency Polyclinic between January 2005-December 2010 were retrospectively evaluated regarding complaints at admission, neurological examination and CTB results. The sensitivity and specificity of the neurological examination in detecting the CTB pathology was determined. RESULTS: The results were normal in 319 of the 342 cases with CBT and abnormal in 23, out of which abnormal CTB results were only in three (0.99%) of the 301 patients with normal neurological examination results and in 20 (48.8%) of 41 patients with abnormal neurological examination results. The difference between the two groups was statistically significant (p=0.001). The sensitivity and specificity of the neurological examination in detecting CTB pathology were 87% and 94%, respectively. CONCLUSION: Detailed neurological examination of the patients in the pediatric emergency department has a key role in determining the indications for CTB. Clinical follow-up should guide neuroradiological imaging in children with normal results of the neurological examination.

15.
J Clin Neurosci ; 76: 41-45, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32327377

RESUMO

This paper aims to investigate the possible roles of a set of neurotrophic factors (brain-derived neurotrophic factor-BDNF, nerve growth factor-NGF) and neuropeptides (neuropeptide Y-NPY, and galanin) in children with active epileptogenesis. The cerebrospinal fluid (CSF) levels of BDNF, NPY, NGF and galanin were measured with enzyme-linked immunosorbent assays in epileptic children (n = 73) and controls (n = 64). There were no significant alterations in the CSF levels of BDNF, NPY and NGF in epileptic children with active clinical seizures compared with the levels of controls. However profoundly depressed galanin levels were found in infants with epileptic encephalopathy (mean ± SD:0.63 ± 0.19 pg/ml) and significantly increased galanin levels were measured in children with drug resistant epilepsy during the period of status epilepticus (mean ± SD: 6.92 ± 1.19, pg/ml pg/ml) compared with the levels of controls. Depressed levels of galanin might reflect a defective anti-epileptogenic effect of galanin in infants with epileptic encephalopathy. On the contrary, increased CSF levels of galanin might be a result of anti-epileptogenic effects of this peptide in epileptic children with status epilepticus.


Assuntos
Fator Neurotrófico Derivado do Encéfalo/líquido cefalorraquidiano , Epilepsia/líquido cefalorraquidiano , Galanina/líquido cefalorraquidiano , Fator de Crescimento Neural/líquido cefalorraquidiano , Neuropeptídeo Y/líquido cefalorraquidiano , Animais , Criança , Feminino , Humanos , Lactente , Masculino , Estado Epiléptico/líquido cefalorraquidiano
16.
Turk J Pediatr ; 62(4): 594-605, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32779412

RESUMO

BACKGROUND AND OBJECTIVES: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated, inflammatory and demyelinating disorder of the central nervous system. There have been a few studies in recent years on the fact that these cases have neurocognitive impairment. The purpose of this study is to evaluate the neurocognitive outcome and quality of life in cases with ADEM. METHODS: Eleven cases who were on follow-up between 2008 and 2017 were included in the study, systemic, neurological and psychiatric examinations were done. All magnetic resonance images were re-evaluated. The neuropsychiatric evaluation was performed by clinical examination and psychometric scales; (1) The Pediatric Quality of Life Inventory 4.0, (2) Child Behavior Checklist, (3) Children`s Depression Inventory, (4) The Wechsler Intelligence Scale for Children-Revised and (5) Continuous Performance Test. The cases in our study underwent neuropsychiatric evaluation 3-42 months after the diagnosis of ADEM had been established. RESULTS: Nine cases (81.8%) fully recovered without neurologic deficit. One case (9.1%) had a psychiatric disorder. During follow-up, cognitive and psychiatric problems were encountered in half of the cases (54.5%). Most of the cases with basal ganglia involvement (80%) displayed attention deficit and cognitive problems. CONCLUSION: In particular, cases with basal ganglia involvement should be followed carefully in terms of attention and cognitive problems.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade , Encefalomielite Aguda Disseminada , Criança , Encefalomielite Aguda Disseminada/diagnóstico , Humanos , Imageamento por Ressonância Magnética , Qualidade de Vida
17.
Turk Pediatri Ars ; 54(3): 189-191, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31619932

RESUMO

Neuralgic amyotrophy is characterized by recurrent, painful, unilateral neuropathy involving mainly the upper brachial plexus followed by muscle weakness and muscle wasting. There are two forms: idiopathic and hereditary. Hereditary neuralgic amyotrophy is an autosomal dominant disease that is often linked to a mutation of SEPT9, a gene of the Septin family. The phenotypic spectrum of the disease may include hypotelorism, cleft palate, and other minor dysmorphisms. The age of onset is from infancy to adulthood. Hereditary neuralgic amyotrophy can be triggered by external stimuli such as infections, vaccinations, cold, stress, surgery, and strenuous exercise. Here, we report a six-year-old girl who was found to have mutation in the SEPT9 gene when she presented with recurrent attacks of painful brachial plexopathy following vaccinations, and was diagnosed as having hereditary neuralgic amyotrophy.

18.
J Pediatr Ophthalmol Strabismus ; 55: e33-e35, 2018 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-30388279

RESUMO

Anisocoria is a significant finding in several ocular and potentially life-threatening neurological disorders. The angel's trumpet (Datura suaveolens), widely used as a garden plant, is a natural alkaloid with anticholinergic effects containing high levels of scopolamine. The authors present a pediatric case of acute anisocoria secondary to contact with the angel's trumpet plant. This case report emphasizes the importance of considering herbal mydriatics in patients with acute, isolated, unilateral mydriasis. It is also important to raise public awareness about the potential risks of the angel's trumpet plant, particularly in areas close to schools and playgrounds. [J Pediatr Ophthalmol Strabismus. 2018;55:e33-e35.].


Assuntos
Anisocoria/etiologia , Datura stramonium/intoxicação , Midríase/etiologia , Intoxicação por Plantas/complicações , Plantas Tóxicas/intoxicação , Doença Aguda , Anisocoria/fisiopatologia , Criança , Feminino , Humanos , Midríase/fisiopatologia , Doenças Raras
19.
Turk J Med Sci ; 47(1): 282-286, 2017 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-28263503

RESUMO

BACKGROUND/AIM: In recent years ischemia-modified albumin (IMA) has been suggested as a marker that can be used in differentiating nonconvulsive conditions from epilepsy. The purpose of this study was to investigate changes in IMA levels caused by generalized clonic tonic (GTC) seizures. MATERIALS AND METHODS: A total of 114 children presenting to the Karadeniz Technical Pediatric Emergency Polyclinic with GTC seizures were included in the study. Sixteen cases meeting the inclusion criteria were included in the study and sixteen healthy children were enrolled as the control group. The patients' IMA, albumin, and IMA/albumin values at hours 0 and 1 following the episode were compared with control group values. RESULTS: IMA levels in the patient group were significantly higher at hour 1 compared to hour 0, and were also significantly higher than those of the control group levels at hour 1. In addition, the patient group IMA/albumin index value at hour 1 was significantly higher than the baseline value. IMA levels increased significantly with length of seizure. CONCLUSION: Although there were no markers of hypoxia in patients undergoing GTC seizures in this study, hypoxia was observed to develop, and this caused serum IMA levels to rise in line with seizure duration.


Assuntos
Convulsões/sangue , Convulsões/diagnóstico , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Diagnóstico Diferencial , Epilepsia Tônico-Clônica/sangue , Epilepsia Tônico-Clônica/diagnóstico , Feminino , Humanos , Masculino , Albumina Sérica Humana
20.
J Clin Res Pediatr Endocrinol ; 8(2): 192-6, 2016 Jun 05.
Artigo em Inglês | MEDLINE | ID: mdl-26758209

RESUMO

OBJECTIVE: Clinicians should show an awareness on the menstrual characteristics of adolescent girls which may differ from adults in some aspects. To define menstrual cycle features among high school girls residing in a city center in southeastern Turkey. METHODS: A cross-sectional survey was conducted on 1256 girls attending a high school located in the city center of Elazig, Turkey. Data from 879 girls (median age, 16.2 years; range, 13.6-19.2 years) who agreed to participate in the study and had started to menstruate were evaluated. RESULTS: Mean age at menarche was 12.7±1.3 years (range, 8.2-17.3 years). The mean cycle duration was 28.7±4.4 days, and the mean menstrual flow lasted 5.9±1.3 days. Severe, moderate, and mild dysmenorrhea was reported in 29%, 43%, and 28% of the girls, respectively, and 52% used analgesics for dysmenorrhea. A total of 34% of the girls defined their menstrual cycle as irregular, and 32% reported school absenteeism due to menstruation-associated complaints (pain and/or heavy bleeding). Menstrual bleeding affected attendance to classes and other school activities, daily work, social, family, and friend relationships, as well as sports/exercise activities in 43%, 49%, 58%, 48%, 44%, and 60% of the participants, respectively. In total, 30% of the responders had a problem with menstruation, and 12% and 17% of these stated that they consulted a primary care physician or specialist, respectively. CONCLUSION: Dysmenorrhea was found to be common in adolescent Turkish girls and to affect daily life in approximately half of the girls.


Assuntos
Dismenorreia/epidemiologia , Menstruação , Adolescente , Estudos Transversais , Feminino , Humanos , Menarca , Ciclo Menstrual , Prevalência , Puberdade , Inquéritos e Questionários , Turquia/epidemiologia
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