RESUMO
Background/aim: Obstructive sleep apnea (OSA) is a common sleep-related breathing disorder in children. Determination of risk factors for the development of OSA is essential for early diagnosis and treatment of the disease and decreases the risk of negative consequences. This study aimed to investigate the predictive values of Mallampati score, tonsillar size, and BMI z-score in the presence and severity of OSA in children. Materials and methods: This prospective cross-sectional study included 114 children with OSA symptoms. All children were assessed by BMI z-score, Mallampati score, and tonsillar size and underwent overnight polysomnography. They were consecutively selected and assigned to 4 groups as follows: Group 1 included normal-weight with a low Mallampati score; Group 2 involved normal-weight with a high Mallampati score; Group 3 included obese with a low Mallampati score; and Group 4 involved obese with a high Mallampati score. Results: Of the 114 included children, 58 were female and 56 were male, with a mean age of 13.1 ± 2.9 years. OSA frequency and apnea-hypopnea index were significantly higher in group 4 compared with other groups (p = 0.003 and p < 0.0001, respectively), whereas average and minimum spO2 were significantly lower (for both, p = 0.001). Mallampati score and BMI z-score were found to be significant for predicting OSA (odds ratio = 4.147, 95% CI: 1.440-11.944; p = 0.008 and odds ratio = 1.760, 95% CI: 1.039-2.980; p = 0.035, respectively). Among OSA patients, the Mallampati score, tonsillar size, and BMI z-score were found to be significant for predicting OSA severity (odds ratio = 4.520, 95% CI: 1.332-15.335, p = 0.015, odds ratio = 9.177, 95% CI: 2.513-33.514, p = 0.001, and odds ratio = 2.820, 95% CI: 1.444-5.508; p = 0.002, respectively). Conclusion: The coexistence of the Mallampati score and BMI z-score significantly increases the presence of OSA in children. Mallampati score, tonsillar size, and BMI z-score are promising parameters for predicting OSA severity.
Assuntos
Índice de Massa Corporal , Tonsila Palatina , Índice de Gravidade de Doença , Apneia Obstrutiva do Sono , Humanos , Apneia Obstrutiva do Sono/epidemiologia , Apneia Obstrutiva do Sono/diagnóstico , Masculino , Feminino , Tonsila Palatina/patologia , Estudos Transversais , Estudos Prospectivos , Criança , Adolescente , Polissonografia , Valor Preditivo dos Testes , Fatores de RiscoRESUMO
BACKGROUND: The cingulate gyrus (CG), a brain structure above the corpus callosum, is recognised as part of the limbic system and plays numerous vital roles. However, its full functional capacity is yet to be understood. In recent years, emerging evidence from imaging modalities, supported by electrical cortical stimulation (ECS) findings, has improved our understanding. To our knowledge, there is a limited number of systematic reviews of the cingulate function studied by ECS. We aim to parcellate the CG by reviewing ECS studies. DESIGN/METHODS: We searched PubMed and Embase for studies investigating CG using ECS. A total of 30 studies met the inclusion criteria. We evaluated the ECS responses across the cingulate subregions and summarised the reported findings. RESULTS: We included 30 studies (totalling 887 patients, with a mean age of 31.8±9.8 years). The total number of electrodes implanted within the cingulate was 3028 electrode contacts; positive responses were obtained in 941 (31.1%, median percentages, 32.3%, IQR 22.2%-64.3%). The responses elicited from the CG were as follows. Simple motor (8 studies, 26.7 %), complex motor (10 studies, 33.3%), gelastic with and without mirth (7 studies, 23.3%), somatosensory (9 studies, 30%), autonomic (11 studies, 36.7 %), psychic (8 studies, 26.7%) and vestibular (3 studies, 10%). Visual and speech responses were also reported. Despite some overlap, the results indicate that the anterior cingulate cortex is responsible for most emotional, laughter and autonomic responses, while the middle cingulate cortex controls most complex motor behaviours, and the posterior cingulate cortex (PCC) regulates visual, among various other responses. Consistent null responses have been observed across different regions, emphasising PCC. CONCLUSIONS: Our results provide a segmental mapping of the functional properties of CG, helping to improve precision in the surgical planning of epilepsy.
Assuntos
Estimulação Elétrica , Giro do Cíngulo , Adulto , Humanos , Mapeamento Encefálico , Giro do Cíngulo/fisiologia , Giro do Cíngulo/diagnóstico por imagem , Adulto JovemRESUMO
PURPOSE: It has been suggested that the cause of the balance disorder seen in adolescent idiopathic scoliosis (AIS) originates from the central nervous system. However, the extent of the balance problem and the dysfunction of which part of the central nervous system has not been investigated in detail. This study aimed to correlate the values obtained by balance analysis and cerebellum volume measurement in female individuals with AIS with healthy individuals. METHODS: Cerebellum volume was calculated via the cloud-based software " https://volbrain.upv.es " using brain magnetic resonance images of 27 healthy and 26 individuals with AIS. The duration of stay in the test positions, the movement strategy used during this time and the amount of postural sway were analyzed by using a computer-assisted force platform and compared statistically. RESULTS: Significant differences were found between the AIS and control groups in cerebellum total volume, vermis cerebelli volume (cm3), and trunk oscillation velocity (mm/s) parameters (p < 0.05). Cerebellum and vermis cerebelli volumes were found to be lower and trunk oscillation velocity was found to be greater in patients with AIS. CONCLUSION: Balance problems in patients with AIS are correlated with decreased cerebellum volume and increased trunk oscillation velocity.
Assuntos
Cifose , Escoliose , Humanos , Adolescente , Feminino , Cerebelo/diagnóstico por imagem , Movimento , Cifose/complicações , Imageamento por Ressonância Magnética/efeitos adversos , Equilíbrio Postural/fisiologiaRESUMO
PURPOSE: Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy and severe brain and eye malformations. This study aims to analyze genotype-phenotype correlations in WWS with a novel cytidine diphosphate-l-ribitol pyrophosphorylase A (CRPPA) mutation in different clinical manifestations. CASE DESCRIPTION: We report a girl with a presentation of multiple brain and ocular anomalies. Her ophthalmological evaluation showed a shallow anterior chamber, cortical cataract, iris hypoplasia, persistent hyperplastic primary vitreous in the right eye, punctate cataract, iris hypoplasia, primary congenital glaucoma, and a widespread loss of fundus pigmentation in the left eye. She was hypotonic, and her deep tendon reflexes were absent. Laboratory investigations showed high serum levels of serum creatine kinase. Brain magnetic resonance imaging demonstrated hydrocephalus, agenesis of the corpus callosum, retrocerebellar cyst, cerebellar dysplasia and hypoplasia, cobblestone lissencephaly, and hypoplastic brainstem. Whole exome sequencing revealed a novel homozygous nonsense mutation in the first exon of the CRPPA gene (NM_001101426.4, c.217G>T, p.Glu73Ter). CONCLUSIONS: The study findings expand the phenotypic variability of the ocular manifestations in the CRPPA gene-related WWS. Iris hypoplasia can be a part of clinical manifestations of the CRPPA gene-related WWS. The uncovering of the genes associated with ocular features can provide preventative methods, early diagnosis, and improved therapeutic strategies.
Assuntos
Catarata , Distrofias Musculares , Síndrome de Walker-Warburg , Catarata/diagnóstico , Catarata/genética , Anormalidades do Olho , Feminino , Estudos de Associação Genética , Humanos , Distrofias Musculares/congênito , Distrofias Musculares/genética , Distrofias Musculares/patologia , Mutação , Síndrome de Walker-Warburg/diagnóstico , Síndrome de Walker-Warburg/genéticaRESUMO
BACKGROUND: Glossokinetic artifact (GKA) is a well-known scalp EEG artifact characterized by deflections within the delta to low-theta frequency bands and dynamic polarity typically attributed to the direction of tongue movement. This study aims to investigate intracranial EEG correlations of scalp-GKA. If the tongue is a dipole, per the conventional view, then volume-conducted deflections are expected in the nearest frontal intracranial EEG contacts. MATERIALS AND METHODS: Simultaneous scalp and intracranial EEG recordings were evaluated in five consecutive medically resistant epilepsy patients at Yale Epilepsy Center in 2017 and 2018, who had classic GKA deflections on scalp EEG. The EEG was sampled at 2,048 to 4,096 Hz and analyzed visually, using a reference placed in the diploic space or over the convexity, and confirmed quantitatively by a statistical framework. Ten GKA deflections were analyzed per case. RESULTS: The medians of age at the time of recording, contacts per case, and amplitude of scalp GKA deflections were 35 years (range: 20-41 years), 171 contacts (range: 165-241 contacts), and 56 µV (range: 51-72 µV), respectively. There were no slow discharges in the frontal intracranial EEG contacts synchronized with the scalp GKA, either in the delta (1-3 Hz) or in the sub-delta (0.1-1 Hz) bands. However, the expected physiologic attenuation of alpha and beta rhythms and the emergence of high-gamma activity were observed over the peri-Rolandic regions in the invasive recordings. CONCLUSIONS: The traditional view of the tongue as a dipole generator of scalp GKA is simplistic and does not account for the findings reported herein. The tongue most probably shunts other scalp and soft-tissue currents. Knowledge of tongue potentials is of interest in the education and the design of tongue-computer interfaces.
Assuntos
Eletrocorticografia , Epilepsia , Artefatos , Eletroencefalografia , Humanos , Couro Cabeludo , Língua/fisiologiaRESUMO
BACKGROUND AND PURPOSE: Dueto motion artifacts, optic nerve (ON) findings of idiopathic intracranial hypertension (IIH) can easily be overlooked on T2-weighted (T2w) turbo spin-echo sequence. This study aimed to investigate the contribution of the apparent diffusion coefficient (ADC) map derived from the interleaved multi-shot (IMS) echoplanar imaging (EPI) to the ON findings of IIH in children. METHODS: MRIs of 42 pediatric patients aged 3-17 years diagnosed with definite IIH according to modified Dandy criteria were retrospectively re-evaluated, between April 2018 and January 2021. Forty-two age- and sex-matched subjects with no IIH symptoms and reported as normal were included as a control group. RESULTS: ON sheath distance (ONSD) on the ADC map (p = .005) and vertical tortuosity (p = .030) were significant single MRI parameters for predicting IIH. Other single parameters were not statistically significant. Flattening of the posterior sclera (FPS) and ON protrusion (ONP) were observed on ADC maps more frequently than T2w (42.8% vs. 19% and 19% vs. 4.7%, respectively). From combined MRI parameters, the presence of at least one of ONP, FPS, or ONSD on ADC maps (p = .001) showed greater significance than the presence of T2w (p = .048). The predictive values of other MRI findings evaluated together were not statistically significant (p > .05). CONCLUSIONS: This study's results show that due to the short readout time and less sensitivity to motion, the ADC map obtained from IMS-EPI can contribute to orbital findings of IIH, in addition to T2w.
Assuntos
Hipertensão Intracraniana , Pseudotumor Cerebral , Adolescente , Criança , Pré-Escolar , Imagem de Difusão por Ressonância Magnética/métodos , Imagem Ecoplanar/métodos , Humanos , Nervo Óptico/diagnóstico por imagem , Estudos RetrospectivosRESUMO
BACKGROUND: Agenesis of the corpus callosum (ACC) is the most frequent commissural malformation of the brain. It continues to be an important cause of the pregnancy termination associated with the central nervous system (CNS). OBJECTIVE: The aim of the study is to provide a comprehensive assessment of fetuses with diagnosis of complete ACC, as well as postnatal neurodevelopmental outcomes. METHODS: The data of 75,843 fetuses were screened for evaluation of complete ACC between 2003 and 2017, and a total of 109 cases with complete ACC were included in the study. ACC was considered isolated when no additional anomalies were detected, and ACC was considered complex when additional anomalies were present. RESULTS: The prevalence of complete ACC was 9.4 per 10,000 live births, and the incidence was ranged from 1.8 to 16.6 per 10,000 person-years. Patients with isolated ACC had a significantly higher survival when compared with patients with complex ACC (97.4%, n = 38/39 vs. 68.8%, n = 22/32, P = 0.001).The most important cause of death were congenital heart disease and/or respiratory failure during neonatal period. Developmental and intellectual disabilities were significantly higher in the complex ACC cases (P < 0.001). Postnatal neurodevelopmental outcomes were completely normal in 79.4% of cases with isolated ACC. CONCLUSIONS: Isolated complete ACC is usually associated with a favorable outcome. The most important prognostic factors are the presence or absence of associated congenital anomalies.
Assuntos
Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/epidemiologia , Anormalidades Congênitas/epidemiologia , Deficiências do Desenvolvimento/epidemiologia , Doenças Fetais/epidemiologia , Deficiência Intelectual/epidemiologia , Agenesia do Corpo Caloso/mortalidade , Criança , Anormalidades Congênitas/mortalidade , Feminino , Doenças Fetais/mortalidade , Cardiopatias Congênitas/mortalidade , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Gravidez , Diagnóstico Pré-Natal , Insuficiência Respiratória/mortalidade , Estudos RetrospectivosRESUMO
Ischemic stroke is a significant health condition, whose frequency in childhood is increasing day by day. Although many factors are effective in development of the stroke, it has been showed that individuals having risk factors have a genetic predisposition. The aim of the study is to determine whether distinct genetic mutations are risk factors for children with history of ischemic stroke. Our sample data is taken from 58 patients (29 male and 29 female) who applied our hospital between 2012 and 2016 with diagnosis of acute or chronic arterial stroke and from 70 healthy children (32 male and 38 female) with similar particularities in the sense of age and sex, who have not any chronical disease. Blood samples are taken from each child participated in the study to conduct genetic analysis. It has been examined whether a mutation exists in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736). Moreover, whether there are significant difference between patient and control group has been investigated. In the genetic analysis of patients and control groups, no significant difference has been found for any of the genes. Mutations in gene locations of CDKN2B-AS1 (Rs2383206), HDAC9 (Rs11984041), NINJ2 (Rs12425791), NAA25 (Rs17696736) are not risk factors for ischemic stroke in childhood. However this study showed us, the patients who inherit CDKN2B-AS1 and HDCA9 gene mutations had poor prognosis. However, this study should be replicated for a wider sample of patient population.
Assuntos
Isquemia Encefálica/genética , Moléculas de Adesão Celular Neuronais/genética , Inibidor de Quinase Dependente de Ciclina p15/genética , Predisposição Genética para Doença , Histona Desacetilases/genética , Mutação , Acetiltransferase N-Terminal B/genética , Proteínas Repressoras/genética , Acidente Vascular Cerebral/genética , Criança , Feminino , Humanos , Masculino , Fatores de RiscoRESUMO
AIMS: The aim of this study is to evalute the effects of methylphenidate and atomoxetine treatments on electroencephalography (EEG) signals in volunteer children diagnosed with Attention Deficit and Hyperactivity Disorder(ADHD). METHODS: The study contained 40 children all of whom were between the ages of 7 and 17. The participants were classified into two groups as ADHD (n=20), which was in itself divided into two groups as ADHD-MPH (ADHD- Metylphenidate treatment) (n=10) and as ADHD-ATX (ADHD-Atomoxetin treatment) (n=10), and one control group (n=20). Following the first EEG recordings of the ADHD group, long-acting methylphenidate dose was applied to one ADHD group and atomoxetine dose was applied to the other ADHD group. The effect of optimal dosage is about for 4-6 weeks in general. Therefore, the response or lack of response to the treatment was evaluated three months after the beginning of the treatment.After methylphenidate and atomoxetine drug treatment, in order to obtain mean and maximum power values for delta, theta, alpha and beta band, the EEG data were analyzed. RESULTS: The EEG power spectrum densities in all the bands yielded similar findings in both methylphenidate and atomoxetine. Although statistically significant frequency values of the electrodes were amplitude and maximally varied, in general, they appeared mostly at both frontal and temporal regions for methylphenidate and atomoxetine. CONCLUSION: Especially, after atomoxetine treatment, Quantitative Electroencephalography (QEEG) rates at frontal area electrodes were found statistically more significant than methylphenidate QEEG rates. What has been researched in this study is not only whether QEEG is likely to support the diagnosis, but whether changes on QEEG by treatment may be related to the severity of ADHD as well.
RESUMO
OBJECTIVE: To identify causes of the autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia (DMJD) syndrome. METHODS: Eight families with DMJD were studied by whole-exome or targeted sequencing, with detailed clinical and radiological characterization. Patient-derived induced pluripotent stem cells were derived into neural precursor and endothelial cells to study gene expression. RESULTS: All patients showed biallelic mutations in the nonclustered protocadherin-12 (PCDH12) gene. The characteristic clinical presentation included progressive microcephaly, craniofacial dysmorphism, psychomotor disability, epilepsy, and axial hypotonia with variable appendicular spasticity. Brain imaging showed brainstem malformations and with frequent thinned corpus callosum with punctate brain calcifications, reflecting expression of PCDH12 in neural and endothelial cells. These cells showed lack of PCDH12 expression and impaired neurite outgrowth. INTERPRETATION: DMJD patients have biallelic mutations in PCDH12 and lack of protein expression. These patients present with characteristic microcephaly and abnormalities of white matter tracts. Such pathogenic variants predict a poor outcome as a result of brainstem malformation and evidence of white matter tract defects, and should be added to the phenotypic spectrum associated with PCDH12-related conditions. Ann Neurol 2018;84:646-655.
Assuntos
Tronco Encefálico/anormalidades , Caderinas/genética , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , ProtocaderinasRESUMO
Fever and rash associated in a wide clinical spectrum, drug rash with eosiophilia and systemic symptoms syndrome (DRESS) is a potentially life-threatening hypersensitivity reaction. Early diagnosis and treatment and removal of the offending agent can be life-saving. Physicians should be aware of DRESS syndrome, particularly in patients receiving antiepileptic medication and admitted with a symptoms of fever and skin rash. In this study, a girl aged three years who had been under carbamazepine therapy for one month was admitted to our hospital with symptoms of fever and rash and was diagnosed as having DRESS syndrome, is presented to increase awareness of DRESS syndrome among physicians.
RESUMO
OBJECTIVES: Wilson's disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. METHODS: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10-22 years) and 14 agematched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using twosample t-test. RESULTS: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). CONCLUSION: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.
Assuntos
Gânglios da Base/diagnóstico por imagem , Mapeamento Encefálico/métodos , Tronco Encefálico/diagnóstico por imagem , Cobre/análise , Degeneração Hepatolenticular/diagnóstico por imagem , Degeneração Hepatolenticular/patologia , Imageamento por Ressonância Magnética/métodos , Adolescente , Adulto , Gânglios da Base/patologia , Tronco Encefálico/patologia , Criança , Feminino , Humanos , Masculino , Adulto JovemRESUMO
Traditionally, Morus rubra L. (Moraceae) (red mulberry) and Cornus mas L. (Cornacea) (cornelian cherry) fruits are eaten fresh and are also used in marmalades, juices, jam, natural dyes in Turkey and are believed to have beneficial effects in case of multiple health issues such as antipyretic, diarrhea and intestinal parasites. However, the effects of M. rubra and C. mas on epilepsy has not been known. This study evaluates the effects of M. rubra and C. mas extracts on penicillin-induced epileptiform activity. Sixty Wistar rats randomly divided into ten groups (n=6): control, sham, penicillin, penicillin+M. rubra extract (2.5, 5, 10, 20 mg/kg) and penicillin+C. mas extract (2.5, 5, 10 mg/kg). Epileptiform activity was induced by using penicillin (500 IU, i.c.) and electrocorticogram records (150 min) were obtained. Also, biochemical analysis in blood samples were evaluated. According to the electrocorticogram analysis, the effective dose was detected as 10 mg/kg for both C. mas and M. rubra. This dose decreased the spike frequencies of convulsions while amplitude wasn't changed by both substances. In erythrocyte studies, there were significant differences regarding nitric oxide in the control, sham and penicillin groups. There were significant differences regarding malondialdehyde in all groups. In the plasma, there were significant differences among groups regarding xanthine oxidase in the penicillinC. mas and penicillinM. rubra groups. There were differences regarding malondialdehyde in the penicillin-C. mas and M. rubra-C. mas groups. Both extracts reduced the frequency of epileptiform activity. After administration of the extracts malondialdehyde levels decreased also in both erythrocytes and plasma.
Assuntos
Epilepsia/tratamento farmacológico , Eritrócitos/metabolismo , Glucosídeos/química , Morus/química , Extratos Vegetais/uso terapêutico , Piranos/química , Potenciais de Ação/efeitos dos fármacos , Animais , Antibacterianos/toxicidade , Anticonvulsivantes/uso terapêutico , Ondas Encefálicas/fisiologia , Córtex Cerebral/patologia , Modelos Animais de Doenças , Epilepsia/sangue , Epilepsia/induzido quimicamente , Eritrócitos/efeitos dos fármacos , Masculino , Neurônios/efeitos dos fármacos , Óxido Nítrico/sangue , Penicilinas/toxicidade , Ratos , Ratos Wistar , Superóxido Dismutase/sangue , Tiazolidinedionas/sangue , Fatores de TempoRESUMO
BACKGROUND: The skin is one of the most affected organs in tuberous sclerosis complex and angiofibromas are seen in almost 80% of such patients. These benign tumors impose a great psycho-social burden on patients. OBJECTIVE: The aim of the study was to evaluate the effectiveness and tolerability of topical sirolimus for facial angiofibromas in patients with tuberous sclerosis complex. METHODS: This was a prospective, single-blinded, cross-over study which involved twelve patients. We investigated the effect and safety of topical 0.1% sirolimus, which was obtained by crushing sirolimus tablets and mixing it with petrolatum. The patients were asked to apply the cream to one side of their face, and vaseline to the other side. The effect of topical sirolimus was evaluated using the "facial angiofibroma severity index." RESULTS: There was a significant improvement in the redness and extension of the tumors on the sides to which the active ingredient was applied. Some side effects such as itching and irritation occurred in three patients, which were treated with topical hydrocortisone cream. CONCLUSION: Topical sirolimus appears to be a promising, fairly well tolerated treatment for facial angiofibromas in patients with tuberous sclerosis complex. Although its efficacy diminishes with time, repetitive usage is effective.
Assuntos
Angiofibroma/diagnóstico , Angiofibroma/tratamento farmacológico , Antibióticos Antineoplásicos/administração & dosagem , Sirolimo/administração & dosagem , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/tratamento farmacológico , Administração Tópica , Criança , Estudos Cross-Over , Feminino , Humanos , Masculino , Estudos Prospectivos , Método Simples-Cego , Resultado do TratamentoRESUMO
Background Familial Mediterranean fever (FMF) is an inherited inflammatory disorder characterized by attacks of fever with polyserositis. Objective The purpose of this study was to evaluate pediatric patients with FMF who had central nervous system (CNS) findings. Materials and Methods Our medical records database for 2003 to 2014 was screened retrospectively. In total, 104 patients with FMF were identified, 22 of whom had undergone neurological examination for CNS symptoms. Results Neurological findings included headache in 16 patients (72.7%), epilepsy in 6 patients (27.3%), pseudotumor cerebri in 2 patients (9.1%), tremor in 2 patients (9.1%), and multiple sclerosis in 1 patient (4.5%). The most common MEFV gene mutation was homozygous M694V (40.9%). Conclusions Patients with FMF can present with various CNS manifestations. Further studies that include large populations are needed to elucidate the neurological manifestations of FMF.
Assuntos
Febre Familiar do Mediterrâneo/epidemiologia , Febre Familiar do Mediterrâneo/fisiopatologia , Adolescente , Doenças do Sistema Nervoso Central/epidemiologia , Doenças do Sistema Nervoso Central/etiologia , Doenças do Sistema Nervoso Central/genética , Doenças do Sistema Nervoso Central/fisiopatologia , Criança , Pré-Escolar , Análise Mutacional de DNA , Febre Familiar do Mediterrâneo/complicações , Febre Familiar do Mediterrâneo/genética , Feminino , Seguimentos , Cefaleia/epidemiologia , Cefaleia/etiologia , Cefaleia/genética , Cefaleia/fisiopatologia , Humanos , Lactente , Masculino , Mutação , Pirina/genética , Estudos Retrospectivos , Turquia/epidemiologia , População UrbanaRESUMO
Tyrosinemia type II is a rare autosomal recessive disorder caused by deficiency of tyrosine aminotransferase (TAT). It may occur with ocular and cutaneous symptoms with or without mental retardation, but epileptic seizure is a rare presentation of this disease. Herein we report the clinical, biochemical and genetic features of a 4-year-old boy who presented with afebrile seizure and photophobia. Genomic DNA was obtained from peripheral blood leukocytes from the whole family. Sequencing analysis was performed using the MiSeq next-generation sequencing platform. Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister. During a 2 year follow-up period, the patient had overall poor compliance with protein-restricted diet, but his asymptomatic sister had good compliance with the diet. Cognitive function of the patient worsened steadily, but his asymptomatic sister maintained normal mental status. Tyrosinemia type II should be considered in the differential diagnosis of children presenting with epileptic seizure and photophobia; furthermore, early diagnosis and protein-restricted regimen are important to reduce the risk of long-term complications of tyrosinemia type II such as mental disability.
Assuntos
DNA/genética , Mutação , Tirosina Transaminase/genética , Tirosinemias/genética , Pré-Escolar , Análise Mutacional de DNA , Homozigoto , Humanos , Masculino , Linhagem , Tirosina Transaminase/metabolismo , Tirosinemias/enzimologiaRESUMO
AIM: Wilson's disease is an autosomal recessive disorder of copper metabolism which leads to copper overload in different tissues of the body. The aim of this study was to present the neurologic features of Wilson's disease and to assess the clinical course of neurological findings in children receiving anti-copper treatment. MATERIAL AND METHODS: Twelve children with a diagnosis of Wilson's disease and findings of central nervous system involvement who were followed up in the Department of Pediatric Neurology and Pediatric Gastroenterology of the School of Medicine at Erciyes University were enrolled in the study. RESULTS: The study cases consisted of five boys (42%) and seven girls (58%). The mean age at the time of diagnosis was 9.9±3.4 years (5-15 years). The mean duration of follow-up was 49.0±36.4 months (15-128 months). Neurological findings at presentation included headache in seven cases (58%), tremor in seven cases (58%), dystonia in three cases (25%), ataxia in two cases (17%), dizziness in two cases (17%), numbness in the hands and acute weakness in one case (8%) and syncope in one case (8%). Headache, dizziness, syncope, numbness in hands and acute weakness symptoms resolved completely within six months after receiving treatment. Movement disorders either decreased or remained stable in seven of the eight cases. However, one patient developed progressively worsening dystonia despite to all treatments. CONCLUSIONS: Wilson's disease can be manifested with signs and symptoms of central nervous system in the childhood. Wilson's disease should be considered in all children presenting with movement disorders. A complete neurological assessment should be carried out in all cases with Wilson's disease.
RESUMO
INTRODUCTION: Syncope is one of the most common clinical problem in children. This disorder is characterized by transient, spontaneously self-terminating loss of consciousness with brief duration and complete recovery. This situation is usually alarming for the families of patients. The mechanism of syncope is transient global brain hypoperfusion to levels below those tolerated by cerebrovascular autoregulation. Syncope can occur with many different etiologies in the pediatric population. CLASSIFICATION: Syncopes are divided into three major categories as neurally mediated syncope, cardiovascular-mediated syncope, and non-cardiovascular syncope. CLINICAL FEATURES: The major challenge in the assessment of children with syncope is that most children are asymptomatic at the time of their presentation, therefore making a careful and detailed history and a comprehensive physical examination essential in all patients. A trigger stimulus is detected in some cases, and this is an important clinical clue for the diagnosis. Cardiac causes of syncope in children are rare but can be life threatening and have the highest risk of morbidity and mortality. Misdiagnosis of epilepsy is common in patients presenting with syncope; therefore, the differential diagnosis between epileptic seizures and syncope is very important. It should be remembered that the evaluation of syncope in children is costly and diagnostic workup has a limited diagnostic yield. CONCLUSION: The aim of this article is to present different types of syncope and to provide new practical clinical approaches to the diagnosis, investigation, and management in the pediatric population.
Assuntos
Síncope/diagnóstico , Criança , Feminino , Humanos , Masculino , Síncope/classificação , Síncope/terapiaRESUMO
BACKGROUND: Moyamoya disease is an uncommon, progressive, and occlusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries and its main branches. This occlusion results at the formation of a compensatory collateral arterial network (moyamoya vessels) developing at the base of the brain. The c.14576G>A variant in ring finger protein 213 (RNF213) was recently reported as a susceptibility gene for moyamoya disease. METHODS: We describe two Turkish pediatric siblings with moyamoya disease born to consanguineous, unaffected Turkish parents. RESULTS: The first patient (proband) is a 2-year-old boy who presented with afebrile focal seizures, moderate psychomotor retardation, paresis in the left upper and lower extremity, multiple infarctions of the brain, stenosis of the bilateral internal carotid artery and the middle cerebral artery, and stenosis of the right posterior cerebral artery. The second patient is a 10-year-old girl who is an elder sister of proband. She showed normal psychomotor development, millimetric signal enhancement without diffusion limitation of the brain, and stenosis of the bilateral internal carotid artery. CONCLUSION: We herein report pediatric sibling patients of moyamoya disease who have homozygous wild-type c.14576G>A variant in RNF213, showing different clinical course and disease severity. This is the first report of pediatric siblings with moyamoya disease from Turkey validating the genetic background of most frequent variant in East Asian patients with moyamoya disease.