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Background/aim: Cytomegalovirus (CMV) is the most common congenital viral infection. Although most children with congenital CMV (approximately 85%-90%) are asymptomatic at birth, findings such as sensorineural hearing loss, microcephaly, and neurodevelopmental retardation can be observed during the follow-up. Among the brain magnetic resonance imaging (MRI) findings of CMV are white matter abnormalities, polymicrogyria, and periventricular calcification. Since a definitive diagnosis of congenital CMV cannot be made after the neonatal period, the identification of the associated phenotype is diagnostically important, but data are limited in patients who have been retrospectively diagnosed with congenital CMV infection. The aim of this study was to evaluate the short- and long-term neurological follow-up results of congenital CMV infections in a tertiary hospital. Materials and methods: The neurological results of fifteen patients under the age of 18 years, who had a definitive diagnosis of congenital CMV infection and were followed up in a tertiary care hospital between 2011 and 2020, were retrospectively evaluated. Results: Ten of the patients in our study group were male. The mean age at presentation for neurological evaluation was 2.02 ± 1.54 months, with a median follow-up time of 36.3 months (range: 9.3-129.4 months). Neurological disorders detected during the long-term follow-up included cerebral palsy (46.7%), cognitive impairment (46.7%), epilepsy (40%), and sensorineural hearing loss (26.7%). The most common abnormality observed on MRI scans was white matter involvement (53.3%). Conclusion: Early diagnosis and intervention are crucial in congenital CMV infection, as it commonly results in neurological involvement among the patients in our series. This preventable condition warrants further research regarding prenatal/neonatal screening.
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Infecciones por Citomegalovirus , Imagen por Resonancia Magnética , Humanos , Infecciones por Citomegalovirus/congénito , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/diagnóstico por imagen , Masculino , Femenino , Estudios Retrospectivos , Lactante , Recién Nacido , Preescolar , Niño , Pérdida Auditiva Sensorineural/virologíaAsunto(s)
Enfermedades Musculares , Humanos , Masculino , Femenino , Niño , Enfermedades Musculares/genética , Mutación , Edad de Inicio , LinajeRESUMEN
Tripleurospermum callosum (Boiss. & Heldr.) E. Hossain was recorded in Turkish ethnobotanical data for its use against urinary and respiratory system ailments. Infusion, decoction and 96% ethanol extracts of T. callosum aerial parts were prepared for in vitro antimicrobial activity against urinary system pathogens Escherichia coli ATCC 8739, Staphylococcus aureus ATCC 6538, Pseudomonas aeruginosa ATCC 9027, Klebsiella aerogenes ATCC 1348 and Candida albicans ATCC 10231. The non-toxic concentrations of extracts and in vivo antimicrobial assay were performed using C. elegans. The extracts were analysed by Liquid Chromatography Mass Spectrometry (LC-MS/MS) for phytochemical composition. The water extracts were non-toxic at between 5000 and 312 µg/mL, while 96% ethanol extract at 312 µg/mL for C. elegans. The infusion extract showed in vivo anti-infective effect 5000-312 µg/mL against Gram-negative strains. The results indicate a potential role of plant extracts with relatively non-toxic and anti-infective effects against urinary system pathogens.
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Antiinfecciosos , Tripleurospermum , Animales , Caenorhabditis elegans , Extractos Vegetales/farmacología , Extractos Vegetales/química , Cromatografía Liquida , Pruebas de Sensibilidad Microbiana , Espectrometría de Masas en Tándem , Antiinfecciosos/farmacología , Etanol , Antibacterianos/farmacologíaRESUMEN
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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Acuaporinas , Esclerosis Múltiple , Neuromielitis Óptica , Neuritis Óptica , Humanos , Masculino , Adolescente , Femenino , Niño , Estudios Retrospectivos , Glicoproteína Mielina-Oligodendrócito , Bandas Oligoclonales , Turquía/epidemiología , Neuritis Óptica/diagnóstico , Esclerosis Múltiple/complicaciones , Autoanticuerpos , Metilprednisolona , Acuaporina 4 , Neuromielitis Óptica/complicacionesRESUMEN
BACKGROUND: To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP) in Turkey. METHODS: The clinical data of patients between January 2010 and December 2021 were reviewed retrospectively. The patients were evaluated according to the Joint Task Force of the European Federation of Neurological Societies and the Peripheral Nerve Society Guideline on the management of CIDP (2021). In addition, patients with typical CIDP were divided into two groups according to the first-line treatment modalities (group 1: IVIg only, group 2: IVIg + steroid). The patients were further divided into two separate groups based on their magnetic resonance imaging (MRI) characteristics. RESULTS: A total of 43 patients, 22 (51.2%) males and 21 (48.8%) females, were included in the study. There was a significant difference between pretreatment and post-treatment modified Rankin scale (mRS) scores (P < 0.05) of all patients. First-line treatments include intravenous immunoglobulin (IVIg) (n = 19, 44.2%), IVIg + steroids (n = 20, 46.5%), steroids (n = 1, 2.3%), IVIg + steroids + plasmapheresis (n = 1, 2.3%), and IVIg + plasmapheresis (n = 1, 2.3%). Alternative agent therapy consisted of azathioprine (n = 5), rituximab (n = 1), and azathioprine + mycophenolate mofetil + methotrexate (n = 1). There was no difference between the pretreatment and post-treatment mRS scores of groups 1 and 2 (P > 0.05); however, a significant decrease was found in the mRS scores of both groups with treatment (P < 0.05). The patients with abnormal MRI had significantly higher pretreatment mRS scores compared with the group with normal MRI (P < 0.05). CONCLUSIONS: This multicenter study demonstrated that first-line immunotherapy modalities (IVIg vs IVIg + steroids) had equal efficacy for the treatment of patients with CIDP. We also determined that MRI features might be associated with profound clinical features, but did not affect treatment response.
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Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante , Masculino , Femenino , Niño , Humanos , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/terapia , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/tratamiento farmacológico , Inmunoglobulinas Intravenosas/uso terapéutico , Azatioprina/uso terapéutico , Estudios Retrospectivos , MetotrexatoRESUMEN
BACKGROUND: This study aimed to evaluate the etiology and prognosis of patients followed up for pediatric acute arterial ischemic stroke. METHODS: The clinical characteristics and etiology of patients aged 1 month-18 years who had acute arterial ischemic stroke between January 2010 and December 2020 were retrospectively evaluated. At last follow-up, the patients` functionality (Barthel Index, Functional Independence Measure), quality of life (SF-36 questionnaire), and motor outcomes (Gross Motor Function Classification System) were recorded prospectively/crosssectionally. RESULTS: Forty children (25 boys) with a median current age of 112.5 months (range: 3.6-294) were included in the study. The most frequent etiology was prothrombotic disorders, and the most important factor associated with long-term mortality was valvular heart disease. Of the 27 (67.5%) surviving patients, 29.6% had positive motor outcomes and 29.6% were independent according to the Barthel Index. In terms of quality of life, SF-36 scores were highest in the pain scale and lowest in emotional role difficulty. CONCLUSIONS: Determining the etiology and evaluating prognosis are important to plan effective treatment and rehabilitation for pediatric acute arterial ischemic stroke.
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Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Masculino , Niño , Humanos , Accidente Cerebrovascular/complicaciones , Estudios Retrospectivos , Accidente Cerebrovascular Isquémico/complicaciones , Calidad de Vida , Factores de RiesgoRESUMEN
OBJECTIVE: This study aimed to examine the timing and features of electroencephalography (EEG) as a predictor of seizure recurrence in children with a first unprovoked seizure. METHODS: We retrospectively evaluated the medical records and EEG recordings of pediatric patients who presented within 24 h of a first unprovoked seizure between January 2018-December 2019 and had at least 1 year of pediatric neurology clinical follow-up. RESULTS: The study included 108 patients (53.7% males) with a mean age of 98.75±57.75 months. Sixty-eight patients (63%) had an abnormal initial EEG, of which 55 (80.9%) were focal. The semiology of the first unprovoked seizure was focal in 50% of the patients and correlated with initial EEG findings (p<0.001). Forty-three patients had seizure recurrence during the follow-up period of mean 26.86±7.39 months. Recurrence was observed in the first 6 months in 30 patients and occurred twice in 4 patients. An abnormal EEG after the first unprovoked seizure was found to be an independent risk factor for recurrence, with a 2.42-fold higher recurrence risk in patients with focal EEG abnormalities compared to those with a normal EEG (p = 0.044). Analysis of 7 different timing patterns up to 96 h after the first unprovoked seizure showed that EEG timing was not associated with abnormality detection. DISCUSSION: Our study showed that EEG abnormalities, especially focal abnormalities, after a first unprovoked seizure are a predictor of seizure recurrence. But the rate of detection of EEG abnormalities was not related to the timing of EEG recording, relative to seizure occurrence.
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Electroencefalografía , Convulsiones , Masculino , Niño , Humanos , Femenino , Estudios Retrospectivos , Recurrencia , Convulsiones/diagnóstico , Factores de RiesgoRESUMEN
BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.
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Discapacidad Intelectual , Tabaquismo , Humanos , Discapacidad Intelectual/genética , Lisina/genética , Tabaquismo/genética , Pruebas Genéticas , Canales Iónicos/genéticaRESUMEN
OBJECTIVES: Left ventricular hypertrophy is one of the most typical cardiac abnormalities detected in patients with end-stage renal disease. In patients with congestive heart failure, the most crucial factor determining patient survival is left ventricular ejection fraction. Herein, we present our experience with living donor kidney transplant recipients with a left ventricular ejection fraction of <50%. MATERIALS AND METHODS: Patients who underwent living donor kidney transplant in our center between November 2008 and November 2021 and had pretransplant left ventricular ejection fraction <50% were included. All patients had dialysis the day before surgery. All patients underwent 2-dimensional echocardiograms after dialysis and were categorized according to New York Heart Association classification, pretransplant and on posttransplant day 5. Demographic parameters and additional data, including pretransplant and posttransplant day 5 New York Heart Association classification, left ventricular ejection fraction at 6 months, and graft survival at 6 months, as well as patient survival data, were analyzed. RESULTS: Our study included 31 patients (mean age of 46.6 ± 18.3; range, 11-77 years). We found significant differences in New York Heart Association classifications before and after transplant, indicating that kidney transplant had a positive effect on pretransplant congestive heart failure in patients with low left ventricular ejection fraction (P = .001). The mean pretransplant left ventricular ejection fraction was 32 ± 9.9% (range, 1%-45%), whereas the mean 6-month posttransplant left ventricular ejection fraction was 52 ± 8.7% (range, 28%-63%) (P < .001). Both graft loss and all-cause mortality rates were 12.9%. CONCLUSIONS: Low left ventricular ejection fraction is not a contraindication for kidney transplant. We suggest that myocardial scintigraphy should be performed in patients with end-stage renal disease and low left ventricular ejection fraction, and kidney transplant should be considered in those without ischemic findings.
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BACKGROUND: Tuberous sclerosis complex (TSC) patients may have different specific neuropsychological deficits related to the location of the tubers. Autism spectrum disorders (ASD) are common in TSC patients but the relationship between these diagnoses has not been formally explored. In this study we sought to examine brain Magnetic Resonance Imaging (MRI) findings in TSC patients with ASD. METHODS: We evaluated 34 TSC patients on the basis of DSM-V diagnostic criteria for ASD, Wechsler Intelligence Scale for Children (WISC-R), psychiatrist's examination and also structured parent interviews. The number and localization of the tubers, postcontrast signal characteristics of the tubers, SWI findings, DWI findings on brain MRI were recorded. Demographic features, epilepsy histories, number of antiseizure medications, cognitive status were eveluated also. Patients were divided into two groups: ASD group, which represented group 1 and group 2 consisting of patients without any ASD symptoms. RESULTS: In our study, the mean number of tuber count was 21.8 in patients with ASD patients (Group 1, n = 13) and 12.4 in other TSC patients without ASD (Group 2, n = 21). Rate of tubers in prefrontal cortex/whole tubers (0.51) in patients with ASD was determined to be higher in group 1 (p = 0.003). Also a significant difference was detected between generalize epileptiform activities on EEG and the rate of DRE (p = 0.002; p = 0.001) between groups. Cognitive disturbances and infantile spasm history were similar between groups. TSC2 mutations have been identified in 29 (86%) patients. CONCLUSION: The mean of total tuber count and the rate of the location in the prefrontal cortex were determined to be higher in TSC patients with ASD. Specific areas on brain MRI may help understanding the development of ASD in TSC patients.
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Trastorno del Espectro Autista , Epilepsia , Esclerosis Tuberosa , Niño , Humanos , Trastorno del Espectro Autista/diagnóstico por imagen , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/diagnóstico por imagen , Esclerosis Tuberosa/genética , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Neuroimagen , Epilepsia/patologíaRESUMEN
BACKGROUND: Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a rare clinicoradiological syndrome that typically presents with central nervous system symptoms such as loss of consciousness, seizure, headache, and ophthalmoparesis. METHODS: Here, we highlight the characteristics of this syndrome together with the clinical and MRI findings of 6 pediatric patients with MERS. RESULTS: Between January 2017 and October 2020, 6 patients with MERS (3 boys and 3 girls) presented to our center. The mean age was 122 ± 54.6 (min-max: 44-180) months. None of the patients had a chronic disease. In our study, infectious agents were detected in 4 patients (66.6%), while noninfectious causes (one seizure and the other hyponatremia) were detected in two patients. All of our cases were discharged without any sequelae after an average of 12.1 ± 7 (min-max: 4-20) days of hospitalization. In 1 patient (case 6), control MRI could not be performed, and the radiological recovery of our other patients was shown to be between 14 days and 2 months. DISCUSSION: MERS is an acute encephalopathy with good prognosis and should be considered by neurologists in differential diagnosis due to its variable clinical presentation and specific MRI findings.
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Encefalopatías , Encefalitis , Encefalopatías/complicaciones , Encefalopatías/etiología , Niño , Cuerpo Calloso/diagnóstico por imagen , Cuerpo Calloso/patología , Encefalitis/diagnóstico , Encefalitis/etiología , Encefalitis/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Convulsiones , SíndromeRESUMEN
INTRODUCTION: Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study. MATERIALS AND METHODS: The records of patients diagnosed with epilepsy before the age of 2 years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively. Those diagnosed with an IEM and followed up in the pediatric neurology and pediatric metabolism departments of our hospital were included in the study. RESULTS: A total of 990 patients under the age of 2 years were diagnosed with epilepsy in the pediatric neurology clinic of our hospital and 74 (7.5%) of them had IEM. Thirty-nine (52.7%) of the 74 patients were female. The median age at admission was 144 days (min-max: 0-284). Of the 74 patients diagnosed with metabolic epilepsy, 38 patients were diagnosed with amino acid metabolism disorder, 17 with lysosomal storage disease, 9 with energy metabolism disorder, 5 with vitamin/cofactor/trace element metabolism disorders, 2 with fatty acid metabolism disorder, 2 with peroxisomal disease, and 1 with carbohydrate metabolism disorder. Epilepsy was refractory despite appropriate treatment in 39 patients (52.7%). CONCLUSION: Inborn errors of metabolism are a rare cause of epilepsy, in regions like our country with high rates of consanguineous marriage, IEM should be considered in patients presenting with seizures that do not respond to conventional antiepileptic treatments.
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Epilepsia , Enfermedades Metabólicas , Errores Innatos del Metabolismo , Niño , Humanos , Preescolar , Femenino , Lactante , Masculino , Estudios Retrospectivos , Epilepsia/epidemiología , Epilepsia/etiología , Epilepsia/diagnóstico , Electroencefalografía , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/epidemiologíaRESUMEN
BACKGROUND: Currently, there is no comprehensive and multidisciplinary recommendation study covering all aspects of pediatric dysphagia (PD). This study aimed to generate PD management recommendations with methods that can be used in clinical practice to fill this gap in our country and in the world, from the perspective of experienced multidisciplinary experts. METHODS: This recommendation paper was generated by a multidisciplinary team, using the seven-step process and a three-round modified Delphi survey via e-mail. First, ten open-ended questions were created, and then detailed recommendations including management, diagnosis, treatment, and follow-up were created with the answers from these questions. Each recommendation item was voted on by the experts as overall consensus (strong recommendation), approaching consensus (weak recommendation) and divergent consensus (not recommended). RESULTS: In the 1st Delphi round, a questionnaire of 414 items was prepared based on the experts' responses to ten open-ended questions. In the 2nd Delphi round, 59.2% of these items were accepted as pre-recommendation. In the 3rd Delphi round, 62.6% of 246 items were accepted for inclusion in the proposals. The final version recommendations consisted of 154 items. CONCLUSIONS: This study includes comprehensive and detailed answers for every problem that could be posed in clinical practice for the management of PD, and recommendations are for all pediatric patients with both oropharyngeal and esophageal dysphagia.
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Trastornos de Deglución , Niño , Consenso , Trastornos de Deglución/diagnóstico , Trastornos de Deglución/terapia , Técnica Delphi , Humanos , Encuestas y CuestionariosRESUMEN
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center. METHODS: Data of 12 patients diagnosed with X-ALD were documented retrospectively. Demographics, age of onset, initial symptoms, endocrine and neurological findings, VLCFA levels, neuroimaging data, molecular genetic analysis of ABCD1 gene, and disease progress were documented. RESULTS: Mean age of initiation of symptoms was 7.9 years and mean age of diagnosis was 10.45 years. Eight patients had the CCALD subtype, while two had the cerebral form of AMN, one had the adult form of cerebral ALD, and one patient had the Addison only phenotype. The most common initial symptoms involved the neurological system. Loes scores varied between 0 and 12. Seven patients with CCALD underwent HSCT, among them three patients died. The overall mortality rate was 25%. CONCLUSIONS: Patients with X-ALD should be carefully followed up for cerebral findings and progression, since there is no genotype-phenotype correlation, and the clinical course cannot be predicted by family history. HSCT is the only available treatment option for patients with neurological deterioration.
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Adrenoleucodistrofia/patología , Corteza Cerebral/patología , Índice de Severidad de la Enfermedad , Adolescente , Adrenoleucodistrofia/terapia , Adulto , Niño , Preescolar , Familia , Femenino , Estudios de Seguimiento , Trasplante de Células Madre Hematopoyéticas/métodos , Humanos , Masculino , Pronóstico , Estudios Retrospectivos , Adulto JovenRESUMEN
AIM: Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. MATERIAL AND METHOD: The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients' medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. RESULTS: A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. CONCLUSION: Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.
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Mielitis Transversa/complicaciones , Mielitis Transversa/terapia , Actividades Cotidianas , Adolescente , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Actividad Motora , Mielitis Transversa/diagnóstico , Evaluación de SíntomasRESUMEN
Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16, and VPS33A proteins, is involved in tethering of endosomes, lysosomes, and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome." Here, we report two siblings from a consanguineous Turkish-Arabic family, who have overlapping features of MPS and intracellular trafficking disorders, including short stature, coarse facies, developmental delay, peripheral neuropathy, splenomegaly, spondylar dysplasia, congenital neutropenia, and high-normal glycosaminoglycan excretion. Whole exome sequencing and familial segregation analyses led to the homozygous NM_022575.3:c.540G>T; p.Trp180Cys variant in VPS16 in both siblings. Multiple bioinformatic methods supported the pathogenicity of this variant. Different monoallelic null VPS16 variants and a homozygous missense VPS16 variant had been previously associated with dystonia. A biallelic intronic, probably splice-altering variant in VPS16, causing an MPS-plus syndrome-like disease has been very recently reported in two individuals. The siblings presented herein display no dystonia, but have features of a multisystem storage disorder, representing a novel MPS-plus syndrome-like disease, associated for the first time with VPS16 missense variants.
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Mucopolisacaridosis/genética , Mutación Missense , Proteínas de Transporte Vesicular/genética , Anomalías Múltiples , Femenino , Homocigoto , Humanos , Lactante , Masculino , Mucopolisacaridosis/patología , Linaje , Fenotipo , Hermanos , SíndromeRESUMEN
Nonketotic hyperglycinemia is an autosomal recessive inborn error of glycine metabolism, characterized by deficient activity of the glycine cleavage enzyme system. Classic nonketotic hyperglycinemia is caused by mutations or genomic changes in genes that encode the protein components of the glycine cleavage enzyme system. We aimed to investigate clinical, biochemical, radiological findings and molecular genetic data in ten Turkish patients with classic nonketotic hyperglycinemia. Ten Turkish patients who were diagnosed with classic nonketotic hyperglycinemia in a single center from 2013 to 2019 were included in this study. Their clinical, radiological, electrophysiological and laboratory data were collected retrospectively. Sixty percent of the patients were in neonatal group, while 40 % of the patients were infantile. There were no late-onset patients. 90 % of the patients had the severe form. All patients had developmental delay and seizures. Mortality ratio was 30 % in all groups and 50 % in the neonatal group, while no mortality was seen in infantile group. Median (range) values of cerebrospinal fluid (CSF) glycine levels, plasma glycine levels and CSF/plasma glycine ratios were 148 (15-320) µmol/L, 896 (87-1910) µmol/L, 0.17 (0.09-0.21) respectively. Diffuse hypomyelination and corpus callosum anomaly were the most common cranial MRI findings and multifocal epileptic activity and burst supression pattern were the most common electroencephalographic findings. Six patients had variants in GLDC gene and four in AMT gene; five novel variants including AMT gene deletion were detected. Prognosis was poor and treatment was not effective, especially in the severe form. Classic nonketotic hyperglycinemia causes high morbidity and mortality. Neonatal-onset disease was more common and severe than infantile-onset disease. The ratio of AMT gene variants might be higher in Turkey than other countries. AMT gene deletion also plays a role in the etiology of classic nonketotic hyperglycinemia.
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Genotipo , Hiperglicinemia no Cetósica/genética , Mutación/genética , Convulsiones/etiología , Agenesia del Cuerpo Calloso , Aminoácido Oxidorreductasas/genética , Femenino , Glicina/metabolismo , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Complejos Multienzimáticos/genética , Estudios Retrospectivos , Convulsiones/genética , Transferasas/genéticaRESUMEN
BACKGROUND AND AIM: Although anyone can be affected by the COVID-19 pandemic, it may cause additional concern for people with chronic conditions. Epilepsy is the most common neurological disease in childhood and adolescence. The aim of this study was to determine anxiety levels among the mothers of children under follow-up for epilepsy in our clinic during the COVID-19 pandemic. METHODS: The study group consisted of the mothers of epilepsy patients who were under follow-up in the pediatric neurology outpatient clinic of the tertiary care center and were scheduled for a routine examination during the COVID-19 pandemic. The mothers' anxiety levels according to the Beck Anxiety Inventory and their opinions about COVID-19 in relation to their child were assessed and compared based on whether the mother/patient attended their appointments in person and whether the child had frequent or infrequent seizures. RESULTS: There was no statistically significant difference in anxiety level between the mothers of 64 children with epilepsy who attended their appointment during the pandemic and those of the mothers of 52 who did not attend their appointment. However, the mothers of children with frequent seizures had significantly higher anxiety levels. CONCLUSION: Anxiety level of mothers whose children have frequent seizures was significantly higher compared to mothers whose children have infrequent seizures. It is important to be aware about this point and using telemedicine approach in suitable population and postpone routine outpatient follow-up appointments as much as possible.
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Ansiedad , COVID-19/psicología , Epilepsia , Madres/psicología , Adolescente , Adulto , Ansiedad/etiología , Niño , Preescolar , Femenino , Humanos , Persona de Mediana Edad , SARS-CoV-2 , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Background/aim: Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and Methods: Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results: Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 16.5) were included in this study. The interval range between fever and encephalopathy in patients was 14 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion: Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.
Asunto(s)
Encefalopatías/diagnóstico , Fiebre/etiología , Gripe Humana/diagnóstico , Leucoencefalitis Hemorrágica Aguda/diagnóstico , Vómitos/etiología , Niño , Preescolar , Femenino , Humanos , Lactante , Virus de la Influenza A , Virus de la Influenza B , Masculino , Embarazo , Convulsiones/etiologíaRESUMEN
BACKGROUND AND AIM: Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. METHODS: This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. RESULTS: The study sample consisted of 154 ASD patients; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P < .001). CONCLUSION: Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.