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BACKGROUND: Childhood obesity has become a major global health problem. Obesity is associated with major health problems, such as diabetes, hypertension, dyslipidemia, cardiovascular disease. Obesity is also considered a risk factor for Pseudotumor cerebri (PTC). The present study aimed to investigate the relationship between body mass index (BMI), and cerebrospinal fluid (CSF) pressure in patients with pseudotumor cerebri. METHODS: A total of 48 children diagnosed with PTC, who were aged < 18 years and followed up in the pediatric clinic were included in the retrospective study. National BMI percentile curves were used for reference. We investigated statistically the relationship between BMI, clinical and laboratory results, and CSF pressure in patients. RESULTS: Of total patients 27 were female (56.25%) and 21 were male (43.75%). With regard to the BMI percentile, 20 (41.67%) were overweight or obese. CSF pressure was higher in overweight and obese patients compared to children with BMI in normal ranges (p < 0.05). A statistically significant positive correlation was also observed between BMI and CSF pressure values and between monocyte and CSF values (p < 0.05). CONCLUSIONS: The results of the present study indicate a direct relationship between CSF pressure and BMI in children with PTC. Appropriate diet, exercise, and medical treatment in overweight and obese children can make a significant contribution to the treatment of PTC. Additionally, a significant correlation was observed between CSF pressure and monocyte levels.
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Índice de Masa Corporal , Presión del Líquido Cefalorraquídeo , Obesidad Infantil , Seudotumor Cerebral , Humanos , Seudotumor Cerebral/fisiopatología , Seudotumor Cerebral/complicaciones , Masculino , Femenino , Niño , Estudios Retrospectivos , Presión del Líquido Cefalorraquídeo/fisiología , Adolescente , Obesidad Infantil/complicaciones , Factores de Riesgo , PreescolarRESUMEN
The terms developmental epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) and epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS) designate a spectrum of conditions that are typified by different combinations of motor, cognitive, language, and behavioral regression linked to robust spike-and-wave activity during sleep. In this study, we aimed at describing the clinical and molecular findings in "(developmental) epileptic encephalopathy with spike-and-wave activation in sleep" (D)EE-SWAS) patients as well as at contributing to the genetic etiologic spectrum of (D)EE-SWAS. Single nucleotide polymorphism (SNP) array and whole-exome sequencing (WES) techniques were used to determine the underlying genetic etiologies. Of the 24 patients included in the study, 8 (33%) were female and 16 (67%) were male. The median age at onset of the first seizure was 4 years and the median age at diagnosis of (D)EE-SWAS was 5 years. Of the 24 cases included in the study, 13 were compatible with the clinical diagnosis of DEE-SWAS and 11 were compatible with the clinical diagnosis of EE-SWAS. Abnormal perinatal history was present in four cases (17%), and two cases (8%) had a family history of epilepsy. Approximately two-thirds (63%) of all patients had abnormalities detected on brain computerized tomography/magnetic resonance (CT/MR) imaging. After SNP array and WES analysis, the genetic etiology was revealed in 7 out of 24 (29%) cases. Three of the variants detected were novel (SLC12A5, DLG4, SLC9A6). This study revealed for the first time that Smith-Magenis syndrome, SCN8A-related DEE type 13 and SLC12A5 gene variation are involved in the genetic etiology of (D)EE-SWAS. (D)EE-SWAS is a genetically diverse disorder with underlying copy number variations and single-gene abnormalities. In the current investigation, rare novel variations in genes known to be related to (D)EE-SWAS and not previously reported genes to be related to (D)EE-SWAS were discovered, adding to the molecular genetic spectrum. Molecular etiology enables the patient and family to receive thorough and accurate genetic counseling as well as a personalized medicine approach.
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Secuenciación del Exoma , Sueño , Humanos , Masculino , Femenino , Niño , Turquía , Preescolar , Sueño/genética , Polimorfismo de Nucleótido Simple , Electroencefalografía , Espasmos Infantiles/genética , Lactante , Estudios de Cohortes , Epilepsia/genética , AdolescenteRESUMEN
We present the case of a previously healthy 13-year-old boy who was admitted to the emergency department with acute flaccid paralysis. Magnetic resonance imaging revealed radiological evidence of longitudinally extensive transverse myelitis. Additionally, homogeneous T2 signal increase was observed in the pons and medulla oblongata, initially indicating brainstem encephalitis. Subsequent evaluations confirmed a coexistence of diffuse midline glioma (DMG) in the brain stem alongside acute transverse myelitis (ATM). Children with ATM generally have a more favorable prognosis than adults. However, despite the implementation of advanced treatment methods, the patient's quadriplegia did not improve and resulted in spinal cord sequela atrophy. DMG exhibits an aggressive growth pattern and lacks a known curative treatment. This case represents an exceedingly rare synchronous occurrence of aggressive conditions, underscoring the importance of raising awareness among physicians. Furthermore, we aim to discuss the radiologic differential diagnosis, as this is the first documented instance in the literature.
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Encefalitis , Glioma , Mielitis Transversa , Masculino , Adulto , Niño , Humanos , Adolescente , Mielitis Transversa/complicaciones , Mielitis Transversa/diagnóstico por imagen , Tronco Encefálico/diagnóstico por imagen , Tronco Encefálico/patología , Glioma/complicaciones , Glioma/diagnóstico por imagen , Glioma/patología , Imagen por Resonancia MagnéticaRESUMEN
Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore-forming α-subunit of the NaV 1.1 voltage-gated sodium channel predominantly expressed in the central nervous system. In this research endeavor, our goal is to expand our prior cohort of Turkish patients affected by SCN1A-positive genetic epilepsy disorders. This will be accomplished by incorporating two recently discovered and infrequent index cases who possess a novel biallelic (homozygous) SCN1A missense variant, namely E158G, associated with Dravet syndrome. Furthermore, our intention is to use computational techniques to predict the molecular phenotypes of each distinct SCN1A variant that has been detected to date within our center. The correlation between genotype and phenotype in Dravet syndrome/GEFS+ is intricate and necessitates meticulous clinical investigation as well as advanced scientific exploration. Broadened mechanistic and structural insights into NaV 1.1 dysfunction offer significant promise in facilitating the development of targeted and effective therapies, which will ultimately enhance clinical outcomes in the treatment of epilepsy.
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Epilepsias Mioclónicas , Epilepsia , Síndromes Epilépticos , Humanos , Epilepsias Mioclónicas/genética , Canal de Sodio Activado por Voltaje NAV1.1/genética , Síndromes Epilépticos/genética , Epilepsia/genética , Fenotipo , Mutación Missense , MutaciónRESUMEN
LNPK encodes a conserved membrane protein that stabilizes the junctions of the tubular endoplasmic reticulum network playing crucial roles in diverse biological functions. Recently, homozygous variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying developmental delay, epilepsy and nonspecific brain malformations including corpus callosum hypoplasia and variable impairment of cerebellum. We sought to delineate the molecular and phenotypic spectrum of LNPK-related disorder. Exome or genome sequencing was carried out in 11 families. Thorough clinical and neuroradiological evaluation was performed for all the affected individuals, including review of previously reported patients. We identified 12 distinct homozygous loss-of-function variants in 16 individuals presenting with moderate to profound developmental delay, cognitive impairment, regression, refractory epilepsy and a recognizable neuroimaging pattern consisting of corpus callosum hypoplasia and signal alterations of the forceps minor ('ear-of-the-lynx' sign), variably associated with substantia nigra signal alterations, mild brain atrophy, short midbrain and cerebellar hypoplasia/atrophy. In summary, we define the core phenotype of LNPK-related disorder and expand the list of neurological disorders presenting with the 'ear-of-the-lynx' sign suggesting a possible common underlying mechanism related to endoplasmic reticulum-phagy dysfunction.
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PURPOSE: The present study aimed to identify the molecular etiology of non-syndromic congenital cataract (CC) using whole-exome sequencing (WES) analysis. METHODS: In the present study, ophthalmologic results and pedigree analysis of the families of 12 patients with non-syndromic CC were evaluated. WES analysis was conducted after DNA was isolated from peripheral blood samples obtained from the patients. RESULTS: Twelve non-syndromic probands (10 males and 2 females) with bilateral CC were included in the study. Patient age ranged between 1 and 11 months. WES analysis showed pathogenic/likely pathogenic variant in 7 (58%) of the 12 families and variant of unknown significance (VUS) in 5 (42%) of them. All the 13 different variants detected in 9 different CC-related genes were co-segregated with the disease. Autosomal dominant inheritance was found in 7 (58%) of the families and autosomal recessive inheritance was found in 5 (42%) of them. CONCLUSION: To the best of our knowledge, the present research is one of the limited numbers of studies in the Turkish population in which genetically heterogeneous non-syndromic CC was investigated using WES analysis. Novel variants that we identified in DNMBP, LSS, and WFS1 genes, which are rarely associated with the CC phenotype, have contributed to the mutation spectrum of this disease. Identifying the relevant molecular genetic etiology allows accurate genetic counseling to be provided to the families.
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Catarata , Masculino , Femenino , Humanos , Lactante , Secuenciación del Exoma , Mutación , Fenotipo , Catarata/genética , Catarata/congénito , LinajeRESUMEN
The purpose of the study is to explore the use of Calgary scoring (CS) and Modified Calgary scoring (MCS) in the differentiation of genetic generalized epilepsy and syncope in children. The study involved 117 patients aged < 18 years who presented to our hospital's pediatric neurology outpatient clinic with TLOC between June 2020 and June 2022. In addition to CS and MCS scoring, all patients were subjected to statistical analysis based on their age, sex, number of episodes and distribution during the day, duration of syncope, and family history. Seventy-one patients with syncope and 46 with epilepsy were included in the study. At a CS value > - 1, sensitivity was 86.9% and specificity 63.4%, while at an MCS value > - 1, sensitivity was 76.1% and specificity 71.8%. CS had less specificity and sensitivity in predicting epilepsy when focal epilepsies were excluded. Abnormal behavior noted by bystanders, including witnessed unresponsive, unusual posturing, or limb jerking? (Q5) emerged as the most important question for the detection of epilepsy. Compared with other syncope findings, loss of consciousness during prolonged sitting or standing (Q9) emerged as the most important for the detection of syncope.
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Epilepsias Parciales , Epilepsia Generalizada , Epilepsia , Humanos , Niño , Animales , Diagnóstico Diferencial , Síncope/diagnóstico , Síncope/genética , Epilepsia/diagnóstico , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/genética , Epilepsias Parciales/diagnóstico , AnurosRESUMEN
BACKGROUND: The wrong attitudes of parents on fever create a basis for unnecessary drug use and increased workload. The study was conducted to evaluate the knowledge and attitudes concerning fever and antibiotic use and demonstrate the changes in the last decade. METHODS: This cross-sectional study was composed of two parts, and a total of 500 participants were included. Group 1 (the new group, 50.0%) consisted of 250 participants who participated in the study between February 2020 and March 2020 and Group 2 (the old group, 50.0%) consisted of 250 participants who participated in the study between February 2010 and March 2010. All participants share the same ethnic properties and had been visiting the same center for similar reasons. A validated, structured questionnaire assessing the management of fever and antibiotic use was administered to all mothers. RESULTS: According to the fever assessment scoring, maternal knowledge of fever and its management in children significantly increased (p < 0.001). The antibiotic assessment score also increased in 2020 (p = 0.002). CONCLUSIONS: The public spotlight on the erroneous use of antibiotics and the management of febrile illnesses seems to be promising. Improving maternal/parental educational status and informational advertisements can enhance parental knowledge concerning fever and antibiotic use.
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Antibacterianos , Conocimientos, Actitudes y Práctica en Salud , Niño , Femenino , Humanos , Antibacterianos/uso terapéutico , Estudios Transversales , Fiebre/tratamiento farmacológico , Padres , Encuestas y CuestionariosRESUMEN
PURPOSE: To evaluate the spectral-domain optical coherence tomography (SD-OCT) findings and pattern visual evoked potential (VEP) in Charcot-Marie-Tooth (CMT) disease. METHODS: Seventeen patients with CMT disease and 17 control subjects were included in the study. The patients were divided into two groups according to conduction velocity and inheritance pattern as demyelinating type (CMT 1) and axonal type (CMT 2). The average retinal nerve fiber layer (RNFL) thickness, RNFL thicknesses of all quadrants, and thicknesses of the ganglion cell layer complex (GCC) were measured using SD-OCT. Pattern VEP recordings were evaluated in both groups. RESULTS: The average and four quadrants of RNFL thicknesses, and superior and inferior GCC thicknesses were significantly thinner in the CMT patients compared with healthy individuals, but there were no statistically significant differences between the CMT groups. There was a significant positive correlation between age and all RNFL and GCC thicknesses in the CMT 2 group and between age and RNFL thickness of the temporal quadrant in the CMT 1 group. P100 latencies were significantly delayed in the CMT groups compared with controls, and there were no significant differences in P100 latencies between the CMT groups (p < 0.001). VEP amplitudes were in normal ranges in the CMT groups. CONCLUSION: This study showed that RNFL and GCC thicknesses were significantly reduced and VEP latencies were prolonged in patients with CMT with normal clinical examinations. Our results suggest that optic nerves may be affected more frequently in patients with CMT that is detected in clinical examinations.
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Enfermedad de Charcot-Marie-Tooth , Potenciales Evocados Visuales , Humanos , Células Ganglionares de la Retina , Tomografía de Coherencia Óptica/métodos , Enfermedad de Charcot-Marie-Tooth/diagnóstico , RetinaRESUMEN
BACKGROUND: Beck-Fahrner syndrome is caused by homozygous or heterozygous mutations in TET3 on chromosome 2p13. The general characteristics of this syndrome include behavioral abnormalities such as autistic features, attention-deficit hyperactivity disorder, learning disabilities, and epilepsy. CASE PRESENTATION: Six years old male patient was found to have a de novo TET3 loss-of-function variant by whole-exome sequencing (WES) analysis and was diagnosed with electrical status epilepticus during slow-wave sleep (ESES) based on clinical and electroencephalogram (EEG) characteristics. The patient had a neurodevelopmental delay from the age of 3 months and started experiencing generalized tonic-clonic seizures and regression at the age of 5 years. EEG findings were consistent with ESES, and WES analysis revealed a novel heterozygous nonsense NM_001366022.1:c.1594C > T (p.Arg532*) variant in TET3. Valproic acid and immunotherapy were administered for the first 6 months, and clobazam was administered orally in addition to oral valproic acid therapy for the next 6 months. Clinical improvement was noted regardless of EEG improvement for the first 6 months. EEG improvement was achieved with clobazam. No regression was observed following the discontinuation of immunotherapy. CONCLUSION: Decreased TET3 enzyme activity may be one of the new genetic etiologies of ESES.
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Dioxigenasas , Sueño de Onda Lenta , Estado Epiléptico , Humanos , Masculino , Lactante , Niño , Sueño , Clobazam/uso terapéutico , Ácido Valproico/uso terapéutico , Electroencefalografía , Estado Epiléptico/tratamiento farmacológicoRESUMEN
Background/aim: The cause and treatment of electrical status epilepticus during sleep (ESES), one of the epileptic encephalopathies of childhood, is unclear. The aim of this study was to evaluate possible microstructural abnormalities in the brain using advanced magnetic resonance imaging (MRI) techniques in ESES patients with and without genetic mutations. Materials and methods: This research comprised 12 ESES patients without structural thalamic lesions (6 with genetic abnormalities and 6 without) and 12 healthy children. Whole-exome sequencing was used for the genetic mutation analysis. Brain MRI data were evaluated using tractus-based spatial statistics, voxel-based morphometry, a local gyrification index, subcortical shape analysis, FreeSurfer volume, and cortical thickness. The data of the groups were compared. Results: The mean age in the control group was 9.05 ± 1.85 years, whereas that in the ESES group was 9.45 ± 2.72 years. Compared to the control group, the ESES patients showed higher mean thalamus diffusivity (p < 0.05). ESES patients with genetic mutations had lower axial diffusivity in the superior longitudinal fasciculus and gray matter volume in the entorhinal region, accumbens area, caudate, putamen, cerebral white matter, and outer cerebellar areas. The superior and middle temporal cortical thickness increased in the ESES patients. Conclusion: This study is important in terms of presenting the microstructural evaluation of the brain in ESES patients with advanced MRI analysis methods as well as comparing patients with and without genetic mutations. These findings may be associated with corticostriatal transmission, ictogenesis, epileptogenesis, neuropsychiatric symptoms, cognitive impairment, and cerebellar involvement in ESES. Expanded case-group studies may help to understand the physiology of the corticothalamic circuitry in its etiopathogenesis and develop secondary therapeutic targets for ESES.
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Encéfalo , Imagen por Resonancia Magnética , Estado Epiléptico , Humanos , Estado Epiléptico/diagnóstico por imagen , Estado Epiléptico/fisiopatología , Masculino , Niño , Femenino , Imagen por Resonancia Magnética/métodos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Sueño/fisiología , Adolescente , Estudios de Casos y Controles , Tálamo/diagnóstico por imagen , Tálamo/patologíaRESUMEN
The biallelic variations of the LNPK gene are associated with the "neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" phenotype [MIM:618090] in the Online Mendelian Inheritance In Men database, and so far, two families have been identified in the literature. A third family with novel clinical features, who bears a novel variant in LNPK (NM_030650.3: c.770delA, p.D257fs*31) is described in the present study. The coexistence of psychomotor regression and neurodegeneration in brain magnetic resonance imaging was found for the first time in the present study, thanks to the long-term follow-up data on the case, which contributed to the phenotypic and mutation spectrum by means of the novel variation.
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Encéfalo , Cuerpo Calloso , Atrofia/genética , Atrofia/patología , Encéfalo/patología , Cuerpo Calloso/patología , Humanos , Mutación , FenotipoRESUMEN
PURPOSE: Phenytoin is one of the most used antiepileptic drugs (AEDs), but it has serious potential side effects and drug interactions. Although studies have shown levetiracetam to have a much lower side-effect profile, its efficacy when compared with phenytoin is debatable. In our study, we aimed to determine the factors that cause seizure recurrence and to compare the efficacy of levetiracetam and phenytoin in the treatment of convulsive status epilepticus (CSE) and acute repetitive seizures (ARS). METHODS: In this study, 185 patients diagnosed with CSE or ARS and aged between 1 month and 18 years who received intravenous levetiracetam or phenytoin as a second-line AED were retrospectively evaluated. RESULTS: A total of 185 patients were included in the study, 85 (45.9%) girls and 100 (54.1%) boys.While 54.1% (n = 100) of the patients were given phenytoin, levetiracetam was administered to 45.9% (n = 85) of them. The rates of cessation of seizure and prevention of seizure recurrence for 24 h were 84% for phenytoin and 78.8% for levetiracetam, without a significant difference (p > 0.05). Having active seizures on admission to the emergency department and an age of < 36 months were significantly related to seizure recurrence (p < 0.01). CONCLUSIONS: Our results support that the intravenous administration of levetiracetam as the second-line treatment for CSE and ARS in children is as effective as the intravenous administration of phenytoin.
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Piracetam , Estado Epiléptico , Adolescente , Anticonvulsivantes/efectos adversos , Niño , Preescolar , Femenino , Humanos , Lactante , Infusiones Intravenosas , Levetiracetam/uso terapéutico , Masculino , Fenitoína/efectos adversos , Fenitoína/uso terapéutico , Piracetam/efectos adversos , Piracetam/uso terapéutico , Estudios Retrospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/etiología , Estado Epiléptico/tratamiento farmacológicoRESUMEN
Autosomal recessive primary microcephaly (MCPH) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 SD. MCPH is a group of diseases with genetic heterogeneity and has been reported by the Online Mendelian Inheritance In Man® (OMIM) database and associated with 25 different genes. It is known that MCPH cases are most frequently associated with abnormal spindle-like, microcephaly-associated (ASPM) gene mutations. The ASPM protein consists of an N-terminal 81 IQ (isoleucine-glutamine) domain, a calponin-homology domain, and a C-terminal domain. It interacts with calmodulin and calmodulin-related proteins via the IQ domain and acts as a part in mitotic spindle function. The basic characteristics of cases with ASPM gene mutations are microcephaly (below -3 SD) present before 1 year of age, intellectual disability, and the absence of other congenital anomalies. Macroscopic organization of the brain is preserved in cases with ASPM mutation, and a decrease in brain volume, particularly gray matter volume loss and a simplified gyral pattern are observed. Cortical migration defects are a very rare finding in patients with ASPM mutations. In the present study, we aimed to discuss the clinical and genetic findings in 2 cases with cortical dysplasia in which truncated variants in the ASPM gene were detected, particularly in terms of genotype-phenotype correlation in comparison with the literature.
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Proteínas Adaptadoras Transductoras de Señales/genética , Anomalías Craneofaciales , Discapacidades del Desarrollo , Cardiopatías Congénitas , Osteocondrodisplasias , Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Cardiopatías Congénitas/genética , Humanos , Recién Nacido , Osteocondrodisplasias/congénito , Osteocondrodisplasias/genética , Turquía , Secuenciación del ExomaRESUMEN
OBJECTIVE: To evaluate retinal nerve fiber layer (RNFL) thickness, central macular thickness (CMT), and subfoveal choroid thickness (CT) by using optical coherence tomography (OCT) in adolescents with newly diagnosed epilepsy and patients who had been using Na valproate (VPA) for at least 1 year. METHODS: We examined 60 patients with genetic generalized epilepsy (GGE) aged 8-17 years. Thirty patients with newly diagnosed GGE who were evaluated before the beginning of the therapy and another 30 patients who were chosen from among adolescents with epilepsy using VPA for at least 1 year were included in the study. RESULTS: Nasal quadrant RNFL thickness and CMT measurements were significantly lower in the monotherapy group compared with the newly diagnosed group (p = 0.044 and p = 0.032, respectively). CT measurements were not significantly different between the groups (p = 0.413). There was a negative correlation in regression analysis between the duration of drug use and RNFL thickness in all quadrants. CONCLUSION: According to our study, we observed thinning of the nasal RNFL and macular thickness in adolescents with epilepsy who were using Na valproate for at least 1 year and that as the duration of use increased, the thinning occurred in all RNFL quadrants. Further studies with larger series are needed to better understand the effects of both epilepsy and VPA on the eye.