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Introduction: Hereditary spastic paraplegia (SPG) is a genetically and clinically heterogeneous group of rare neurodegenerative disorders. SPG45 is the AR inherited type of complicated SPG, which is due to a mutation in the NT5C2 gene. Case Presentation: Two sisters, aged 8 and 4, exhibited delayed motor development since early childhood. They also experienced learning difficulties, dysarthric speech, ataxia, nystagmus, strabismus, and spasticity in their extremities. Additionally, brisk deep tendon reflexes were observed in their upper and lower limbs, and they exhibited positive pathological reflexes. Whole-exome sequencing identified a previously unidentified homozygous mutation in the NT5C2 gene, leading to the diagnosis of SPG45 in both siblings. A mutation in the RYR1 gene associated with malignant hyperthermia was also detected in one of the siblings, necessitating ongoing monitoring. Discussion/Conclusion: To the best of our knowledge, we report the first case of a patient with coexistence of the NT5C2 gene and the RYR1 gene.
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BACKGROUND: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge. METHODS: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.
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Aquaporinas , Esclerose Múltipla , Neuromielite Óptica , Neurite Óptica , Humanos , Masculino , Adolescente , Feminino , Criança , Estudos Retrospectivos , Glicoproteína Mielina-Oligodendrócito , Bandas Oligoclonais , Turquia/epidemiologia , Neurite Óptica/diagnóstico , Esclerose Múltipla/complicações , Autoanticorpos , Metilprednisolona , Aquaporina 4 , Neuromielite Óptica/complicaçõesRESUMO
BACKGROUND: This study investigated the effects of levetiracetam (LEV) treatment on cardiac rhythm and heart rate variability. METHODS: The study included two groups of patients diagnosed with non-lesional epilepsy who had not yet been treated and who presented to the outpatient pediatric neurology clinic at Van Training and Research Hospital, Van, Turkey, between 2019 and 2020. The heart rate variability (HRV) of 47 patients in the first group, before and at the 3rd month of treatment, and intravenous (IV) LEV loading in 13 patients in the second group was evaluated by Holter electrocardiography (ECG). RESULTS: It was determined that the values of triangular index, standard deviation of the RR intervals over a 24-hour period (SDNN), standard deviation of all 5-minute mean RR intervals (SDANN), mean of standard deviations of all normal RR intervals (SDNNI), the percentage of RR intervals with >50-millisecond variation (PNN50), and the square root of mean squared differences of successive RR intervals (RMSSD). HRV of 47 patients under LEV treatment significantly increased in the 3rd month of treatment compared to baseline (p < 0.05). No difference was found in HRV between the intravenous loading and the control group (p > 0.05). CONCLUSIONS: Our study suggests that the sympathovagal balance before treatment in the patient group is in favor of the sympathetic nervous system and that the sympathovagal imbalance improves after treatment. Our results show that LEV monotherapy and loading have no negative effect on HRV and potential cardiac arrhythmia risk in children with epilepsy.
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Eletrocardiografia Ambulatorial , Epilepsia , Humanos , Criança , Levetiracetam/uso terapêutico , Epilepsia/tratamento farmacológico , Sistema Nervoso Autônomo , Turquia , Frequência Cardíaca/fisiologiaRESUMO
BACKGROUND: The discovery of anti-myelin oligodendrocyte glycoprotein (MOG)-IgG and anti-aquaporin 4 (AQP4)-IgG and the observation on certain patients previously diagnosed with multiple sclerosis (MS) actually have an antibody-mediated disease mandated re-evaluation of pediatric MS series. AIM: To describe the characteristics of recent pediatric MS cases by age groups and compare with the cohort established before 2015. METHOD: Data of pediatric MS patients diagnosed between 2015 and 2021 were collected from 44 pediatric neurology centers across Türkiye. Clinical and paraclinical features were compared between patients with disease onset before 12 years (earlier onset) and ≥12 years (later onset) as well as between our current (2015-2021) and previous (<2015) cohorts. RESULTS: A total of 634 children (456 girls) were enrolled, 89 (14%) were of earlier onset. The earlier-onset group had lower female/male ratio, more frequent initial diagnosis of acute disseminated encephalomyelitis (ADEM), more frequent brainstem symptoms, longer interval between the first two attacks, less frequent spinal cord involvement on magnetic resonance imaging (MRI), and lower prevalence of cerebrospinal fluid (CSF)-restricted oligoclonal bands (OCBs). The earlier-onset group was less likely to respond to initial disease-modifying treatments. Compared to our previous cohort, the current series had fewer patients with onset <12 years, initial presentation with ADEM-like features, brainstem or cerebellar symptoms, seizures, and spinal lesions on MRI. The female/male ratio, the frequency of sensorial symptoms, and CSF-restricted OCBs were higher than reported in our previous cohort. CONCLUSION: Pediatric MS starting before 12 years was less common than reported previously, likely due to exclusion of patients with antibody-mediated diseases. The results underline the importance of antibody testing and indicate pediatric MS may be a more homogeneous disorder and more similar to adult-onset MS than previously thought.
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Encefalomielite Aguda Disseminada , Esclerose Múltipla , Neuromielite Óptica , Masculino , Feminino , Humanos , Esclerose Múltipla/diagnóstico por imagem , Glicoproteína Mielina-Oligodendrócito , Imageamento por Ressonância Magnética , Autoanticorpos , Imunoglobulina GRESUMO
BACKGROUND: Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient levels of children with (CP). METHODS: This multicenter, cross-sectional and observational study was conducted in 10 different cities in Turkey. Data were available for 398 participants. Anthropometric measurements, feeding mode, nutritional status, and micronutrient levels were evaluated. RESULTS: The study was conducted with 398 participants (303 patients and 95 healthy controls). Statistical analysis showed that according to the Gomez Classification, weight-for-age (WFA) revealed malnutrition in 92.6% of children with CP, based on Centers for Disease Control and Prevention percentiles. Measurements of micronutrient levels showed that zinc levels were low in patients, whereas vitamin A levels were low in controls. Phosphorous and manganese levels were significantly lower in malnourished children than in typical children. The results revealed that children consuming enteral nutrition solutions had higher selenium and lower zinc levels than non-consumers. CONCLUSIONS: Malnutrition is not only a protein- or calorie-based problem; micronutrient deficiencies might cause severe health problems. Children with chronic neurological disabilities must be carefully evaluated for these issues. Therefore, nutritional interventions should be adapted to nutrition.
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Paralisia Cerebral , Desnutrição , Criança , Estudos Transversais , Humanos , Desnutrição/diagnóstico , Desnutrição/etiologia , Micronutrientes , Estado Nutricional , ZincoRESUMO
BACKGROUND: The objective of this study was to determine the effect of febrile convulsion (FC) on neuromotor development. METHODS: Data of 325 patients, who were followed up at our outpatient clinic and diagnosed with FC between January 2012 and December 2018, were retrospectively evaluated. Of these patients, 203 underwent the Denver Developmental Screening Test II (DDST II) and were included in the study as the patient group and 100 healthy children as the control group. RESULTS: Of the study group, 84 (41.4%) were girls and 119 (58.6%) were boys (B/G: 1.4). Of all patients, 163 (80.3%) were diagnosed with simple FC, 22 (10.8%) with complicated FC, and 18 (8.9%) with FC+. There was no significant relationship found between FC subtypes and gender, family history of FC, family history of epilepsy, iron (Fe) deficiency, and Fe deficiency anemia. DDST II subtest points were significantly lower in all developmental areas in the patient group when compared to the controls (p < 0.001), while suspected and abnormal test results were higher in all developmental areas in the patient group compared to the controls (p=0.01). It was also determined that the language points were lower as the age of first seizure increased (r=- 0.319, p < 0.01). CONCLUSIONS: Although FC is known to usually having a good prognosis, the low DDST II test results measured in this study indicated that the FC may pose a developmental risk and patients with FC should be followed up in terms of developmental features. Because of the retrospective nature of the study, there was no `preconvulsion` developmental evaluation. This is a major limitation of our study.
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Anemia Ferropriva , Epilepsia , Convulsões Febris , Criança , Feminino , Humanos , Ferro , Masculino , Estudos Retrospectivos , Convulsões Febris/diagnóstico , Convulsões Febris/epidemiologiaRESUMO
BACKGROUND: Prematurity constitutes a risk factor for developmental delay in infancy and childhood. This study aims to: (i) determine long-term cognitive outcomes in prematurely delivered children and compare them with term-delivered children using the WISC-IV and Stroop tests; (ii) examine the relation between Denver II, Bayley III and WISC-IV, Stroop tests. METHODS: The study group consisted of children born prematurely who had been tested with Denver II and Bayley III in their first 2 years, and had been evaluated with WISC-IV and Stroop tests under follow up, 6-10 years later. RESULTS: The study group (n = 60, 25 F, 35 M) was 8.0 ± 2.4 (6-10.7) years old when given WISC-IV and Stroop tests. Gestational age in the study group was 34-37 weeks in 25%, 30-33 weeks in 48.3%, and <29 weeks in 26.7%. On WISC-IV, the verbal comprehension index, perceptual reasoning index, working memory index, and full-scale IQ scores were lower in the study group than the control group (P < 0.05). The study group took longer to complete the Stroop test (P < 0.05). Lower socioeconomic status (P = 0.005) and parental education level (P = 0.000) were associated with lower verbal comprehension index scores. Denver II and Bayley III test results were related to WISC-IV results (P < 0.05) but not to the Stroop test results (P > 0.05). CONCLUSIONS: Our results showed prematurity negatively influences the results of WISC-IV and Stroop tests at school age. Denver II and Bayley III tests applied at age 2 years likely predict WISC-IV results.
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Doenças do Prematuro , Criança , Pré-Escolar , Cognição , Seguimentos , Humanos , Lactente , Recém-Nascido , Escalas de WechslerRESUMO
Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that have been initially confused with metabolic disorders have hampered early diagnosis. To describe a series of patients with subacute sclerosing panencephalitis with imaging findings mimicking metabolic disorders. A total of six patients with subacute sclerosing panencephalitis were diagnosed from January 2012 to December 2016 in whom a metabolic disorder was suspected on initial clinical and MRI findings. Detailed laboratory investigation was performed in all patients. All patients presented with atypical neurologic manifestations, including dystonia, syncopal attacks, involuntary limb movements, meaningless speech and ataxia. Magnetic resonance imaging abnormalities included bilateral putaminal, bilateral posterior periventricular white matter and diffuse or splenial corpus callosum involvement which are particularly unusual in SSPE and mostly observed in metabolic disorders. All patients had elevated cerebrospinal fluid Ig G measles antibodies. The diagnosis of subacute sclerosing panencephalitis through clinical and imaging features can be considerably challenging. It is crucial to differentiate it from metabolic disorders, since the management and clinical outcome are different.
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Eletroencefalografia/métodos , Imageamento por Ressonância Magnética/métodos , Doenças Metabólicas/diagnóstico por imagem , Doenças Metabólicas/fisiopatologia , Panencefalite Esclerosante Subaguda/diagnóstico por imagem , Panencefalite Esclerosante Subaguda/fisiopatologia , Adolescente , Criança , Diagnóstico Diferencial , Feminino , Humanos , MasculinoRESUMO
OBJECTIVES: This retrospective computed tomography (CT) study was aimed to assess the growth dynamic of the external aperture of the carotid canal (EACC) in children aged between 1 and 20 years. METHODS: Two hundred patients (sex 100 females/100 males, average age 10.50 ± 5.77 years) with good head CT image quality were included in this study. CT images of the patients were used to obtain data related to the location, shape and dimension of EACC. RESULTS: EACC shapes were identified as oval shaped, round shaped, and tear-drop shaped in 58.3% (233 sides), 24% (96 sides) and 17.8% (71 sides), respectively. EACC length, disEACC-MSP (distance between EACC and midsagittal plane), and EACC width did not change from the prepubescence period; while, the disEACC-SC (distance between EACC and supramastoid crest) seemed to reach adult size in the postpubescence period. Linear functions for EACC length and width were calculated as: y = 5.453 + 0.091 × years, and y = 5.398 + 0.059 × years, respectively. CONCLUSION: The regression equations of the measured parameters representing the growth dynamic of EACC in children can be helpful to estimate its size, location and angulation, which suggest that the dimension and distances to certain anatomical landmarks seemed to reach adult size in different developmental periods. In this context, the findings of this study may seem to emphasize the importance of preoperative radiological evaluation on skull base, related to EACC, for multidisciplinary surgeon teams during childhood surgeries in terms of patients' positioning, and the selection of appropriate surgical approach.
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Artéria Carótida Interna/anatomia & histologia , Base do Crânio/irrigação sanguínea , Osso Temporal/irrigação sanguínea , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Base do Crânio/diagnóstico por imagem , Osso Temporal/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
We report a 2.5-year-old Turkish boy who first presented with nystagmus, lack of eye contact, and hypotonia at 2 months of age and developed refractory seizures when 6 months old. Extensive metabolic tests and imaging being noncontributory, whole-exome sequencing was carried out which revealed a heterozygote NM_001134407.2:C.3299A>G (p.Glu1100Gly) novel mutation in GRIN2A gene. Topiramate was started and seizures were rapidly brought under control. GRIN2A mutations may result in altered GluN2A membrane trafficking and response to glutamate. This report illustrates the clinical variability of GRIN2A mutations according to the age of onset of symptoms and suggests considering mutations in this gene in cases of global developmental delay, refractory epilepsy, and nystagmus.
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Levetiracetam is an antiepileptic agent that is used for partial and generalized epilepsy. Although it is well tolerated in most cases, behavioral and nonbehavioral adverse effects may be observed. Among behavioral symptoms, depression, hostility, and agitation have been frequently reported. However, mania or mania-like symptoms are relatively rare, especially in children and adolescents. Hereby, we report mania-like symptoms with levetiracetam use in a 15-year-old boy. Mania-like symptoms emerged 3 weeks after starting levetiracetam and disappeared after adding risperidone to ongoing levetiracetam treatment.
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Anticonvulsivantes/efeitos adversos , Transtorno Bipolar/induzido quimicamente , Epilepsias Parciais/tratamento farmacológico , Levetiracetam/efeitos adversos , Adolescente , Humanos , Masculino , Risperidona/uso terapêuticoRESUMO
PURPOSE: We aimed to (1) compare quality of life (QOL) among children with epilepsy, epilepsy and attention-deficit hyperactivity disorder (ADHD), and primary ADHD and (2) compare ADHD symptom dimensions and subtypes between children with epilepsy-ADHD and primary ADHD. METHODS: A total of 140 children; 53 with epilepsy, 35 with epilepsy-ADHD, and 52 with primary ADHD were included. KINDL-R (quality of life measure), Turgay DSM-IV Disruptive Behavior Disorders Rating Scale (T-DSM-IV-S), and Conners' Parent Rating Scale (CPRS) were completed. Neurology clinic charts were reviewed for epilepsy-related variables. RESULTS: Children with epilepsy-ADHD had the lowest (poorest) KINDL-R total scores. Epilepsy-ADHD group had more inattentiveness symptoms, whereas primary ADHD group had more hyperactivity/impulsivity symptoms. The frequencies of ADHD combined and inattentiveness subtypes were 60% and 40% in children with epilepsy-ADHD and 80.7% and 19.3% in children with primary ADHD, respectively ( P = .034). CONCLUSION: ADHD in epilepsy is associated with a significantly poor quality of life and predominantly inattentiveness symptoms.
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Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Epilepsia/complicações , Epilepsia/psicologia , Adolescente , Criança , Estudos de Coortes , Estudos Transversais , Eletroencefalografia , Feminino , Humanos , Testes de Inteligência , Masculino , Pais/psicologia , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Índice de Gravidade de DoençaRESUMO
AIMS: Attention-deficit hyperactivity disorder (ADHD) is a frequent comorbidity in pediatric epilepsy. Although sleep problems are commonly reported in both children with primary ADHD and epilepsy, those with epilepsy-ADHD comorbidity have not been well studied. This study aimed to compare sleep problems among three groups of children: 1) children with epilepsy, 2) children with epilepsy and ADHD (epilepsy-ADHD), and 3) children with primary ADHD. METHODS: 53 children with epilepsy, 35 children with epilepsy-ADHD, and 52 children with primary ADHD completed the Children's Sleep Habits Questionnaire (CSHQ). Neurology clinic charts were reviewed for the epilepsy-related variables. ADHD subtypes were diagnosed according to the DSM-IV. RESULTS: Children with epilepsy-ADHD had the highest CSHQ total scores, while children with primary ADHD had higher scores than those with epilepsy. Besides the total score, epilepsy-ADHD group differed from the primary ADHD and epilepsy groups with higher CSHQ subscores on sleep onset delay and sleep anxiety. The frequency of moderate-severe sleep problems (CSHQ>56) was 62.9% in children with epilepsy-ADHD, while it was 40.4% and 26.4% in children with primary ADHD and epilepsy, respectively. CSHQ total scores were not different between ADHD subtypes in both children with epilepsy-ADHD and those with primary ADHD. None of the epilepsy-related variables were found to be associated with CSHQ scores. DISCUSSION: Epilepsy-ADHD is associated with a significantly poor sleep quality which is beyond that of primary ADHD and epilepsy.
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Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Transtornos do Sono-Vigília/diagnóstico , Transtornos do Sono-Vigília/epidemiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Criança , Estudos de Coortes , Comorbidade , Estudos Transversais , Epilepsia/psicologia , Feminino , Hábitos , Humanos , Masculino , Sono/fisiologia , Transtornos do Sono-Vigília/psicologia , Inquéritos e QuestionáriosRESUMO
Neuroleptic malignant syndrome (NMS) is a life-threatening idiosyncratic reaction that usually occurs after the administration of antipsychotic drugs. Antidepressants, benzodiazepines, and antiepileptic drugs are also suggested to be associated with NMS. It is believed to result from a dopaminergic blockade in the central nervous system. NMS is manifested by hyperthermia, muscle rigidity, autonomic dysfunction, altered mental status, leukocytosis, and elevated serum creatinine phosphokinase. Valproate is commonly used in the treatment of many psychiatric and neurologic disorders. Valproate can precipitate NMS, especially when used with antipsychotic drugs concurrently. A 17-year-old male patient, who presented with fever, muscular rigidity, confusion, sweating, and tachycardia was admitted to the emergency room. He had been taking only valproate for the last two months for bipolar disorder. His laboratory analyses revealed raised serum hepatic enzymes, creatinine phosphokinase, and myoglobin levels. Considering fever, rigidity, autonomic dysfunction, cognitive alteration, and high creatinine phosphokinase levels, the patient was diagnosed with NMS. In this paper, we aim to discuss the association between valproate and NMS.
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PURPOSE: This study aims to investigate the short-term efficacy and tolerability of immediate-release methylphenidate (IR-MPH) in children with a history of traumatic brain injury (TBI). METHODS: Twenty children with TBI (mean age: 12.7±3.1years) who had clinically significant attention deficit and/or hyperactivity-impulsivity symptoms and twenty children with primary Attention Deficit Hyperactivity Disorder (ADHD) (mean age: 12.3±3.05years) were included. Study measures, which included the Turgay DSM-IV based ADHD rating Scale (T-DSM-IV-S), Conners' Parent Rating Scale (CPRS), Conners' Teacher Rating Scale (CTRS-R) and Clinical Global Impression-Improvement Scale (CGI-I), were completed at the baseline for both of the groups. For the TBI group, study measures and an adverse effect scale developed by the authors were completed 8weeks after IR-MPH treatment (10mg dose t.i.d). RESULTS: No significant difference was found regarding the baseline scale scores between the study groups. Among children with TBI, most of the scores on T-DSM-IV-S, CPRS and CTRS-R were found to improve significantly after MPH treatment, (p<0.05). 70% (N=14) of the sample were much improved at the endpoint. MPH was generally well-tolerated (95% had either no adverse effect or mild adverse effects). CONCLUSION: In this preliminary open-label study, IR-MPH was found as a safe and effective treatment option for ADHD symptoms after TBI. However, future controlled studies are needed to confirm our findings.
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Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Deficit de Atenção com Hiperatividade/tratamento farmacológico , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/tratamento farmacológico , Estimulantes do Sistema Nervoso Central/uso terapêutico , Metilfenidato/uso terapêutico , Estimulantes do Sistema Nervoso Central/efeitos adversos , Criança , Feminino , Humanos , Masculino , Metilfenidato/efeitos adversos , Índice de Gravidade de Doença , Resultado do Tratamento , TurquiaRESUMO
Serotonin syndrome (SS) is a potentially life-threatening condition associated with increased serotonergic activity in central nervous system and may occur during the use of serotonergic drugs. Although increasing frequency of serotonergic drug use in children, pediatricians, emergency medicine and pediatric intensive care specialists have not enough knowledge and experience about SS that is a potentially life-threatening condition. A 12-year-old girl patient was admitted to our emergency room with the history of involuntary contractions on her extremities and alteration of consciousness. Her physical examination showed agitation, hyperthermia, dilated pupils, tremor, increased deep tendon reflexes, positive spontaneous clonus, agitation, flushed skin and diaphoresis, excessive perspiration, and continuous horizontal ocular movements. The patient diagnosed as SS by clinical history, physical and laboratory findings. In this paper, we will discuss SS occurred in a 12-year-old girl after concurrent clomipramine and risperidone use.
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Almost one-fifth of children who sustain a traumatic brain injury (TBI) are under the risk of attention problems after injury. The efficacy and tolerability of methylphenidate (MPH) in children with a history of TBI have not been completely identified. In this case report, MPH-induced manic symptoms in an adolescent with TBI will be summarized. A male patient aged 17 years was admitted with the complaints of attention difficulties on schoolwork and forgetfullness which became evident after TBI. Long-acting MPH was administered with the dose of 18 mg/day for attention problems. After one week, patient presented with the complaints of talking to himself, delusional thoughts, irritability and sleeplessness. This case highlights the fact that therapeutic dose of MPH may cause mania-like symptoms in children with TBI. Close monitarization and slow dose titration are crucial when considering MPH in children with TBI.
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Pisa syndrome, a rare dystonic reaction resulting from prolonged exposure to antipsychotic medications, is characterized by persistent dystonia of trunk muscles and abnormal posture. It is called Pisa syndrome, because the abnormal posture resembles the Leaning Tower of Pisa. Different from other types of dystonic reactions, Pisa syndrome is more prevalent in females and in older patients with organic brain changes. A 15-year-old male patient with mental retardation was admitted to pediatric neurology clinic for the complaint of abnormal posturing. He had been taking only risperidone for the last four years. Over the last month, the patient gradually developed tonic flexion of trunk and head toward left and was diagnosed with Pisa syndrome. In this paper, we aimed to discuss the association between risperidone use and Pisa syndrome in light of the available literature.