RESUMO
OBJECTIVE: This study aimed to provide a comprehensive overview of the clinical features, laboratory and screening results, treatment options, and outcomes of patients with type 1 interferonopathy. Our secondary goal was to identify the predictors of long-term morbidities or fatalities. METHODS: We included children with genetically confirmed type 1 interferonopathies, with a follow-up duration of > 1 year. Data were obtained retrospectively from medical records. RESULTS: Of the 40 eligible patients for the study, 52.5% were female, with a median age of disease onset of 1.5 years (0.1-13.2). They were diagnosed at an average age of 6.8 ± 4.6 years. Aicardi-Goutières Syndrome was the most common diagnosis (n=15; 37.5%). The central nervous system was the most frequently affected system (n=27; 67.5%). Janus kinase inhibitors were administered to 17 (42.5%) patients. Twenty-five patients (62.5%) developed at least one permanent morbidity or died during follow-up; thus, they were included in the poor-outcome group. While younger age at disease onset, intracranial calcification (ICC), and lack of chilblains and elevated acute phase reactants (APRs) were significant in univariate logistic regression analysis, only ICC on MRI at admission (aOR, 19.69; 95% C.I.: 1.08-359.05, p=0.04) was found to be a significant predictor of poor outcomes in multivariate logistic regression analysis. CONCLUSION: For the first time, we evaluated the predictors of poor outcomes in patients with type 1 interferonopathy with a broad spectrum of subtypes. Furthermore, our study's unique patient characteristics can provide valuable insights into these extremely rare conditions.
RESUMO
BACKGROUND: Respiratory involvement is the main factor predicting the prognosis of spinal muscular atrophy (SMA). Significant responses in motor functions have been demonstrated with nusinersen, but pulmonary outcomes are still varied. We aimed to explore the effects of nusinersen on the respiratory functions of patients with SMA. METHODS: Patients with SMA who were receiving regular nusinersen treatment in our tertiary care hospital were enrolled in this study. We evaluated the patients in terms of the necessity to ventilatory or nutritional support, presence of motor involvement and other comorbidities related with prognosis at three consecutive assessments. RESULTS: The study group consisted of 43 patients (18 type 1, 12 type 2, and 13 type 3) with SMA with a mean age of 27.8 months at diagnosis and 60.8 months at the beginning of nusinersen treatment. The respiratory function improvements were noted in six patients at third assessment. Early initiation of nusinersen was significantly correlated with reduced hospital admissions (P = 0.026). Nutritional support and weight gain were remarkable in the ventilatory-supported group. Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were significantly higher in the non-tracheostomized group in patients with SMA type 1 (P < 0.005). CONCLUSIONS: We posit that nusinersen may change the natural prognosis of SMA and improve care of children with SMA. Following up children with SMA for longer periods under nusinersen may be beneficial for understanding the effects of treatment. Results of our study need to be supported by future long-term studies to reach a consensus on nusinersen, considering the overall genetic and environmental status as well as the cost-effectiveness of the treatment.
Assuntos
Atrofia Muscular Espinal , Atrofias Musculares Espinais da Infância , Criança , Lactente , Humanos , Pré-Escolar , Oligonucleotídeos/uso terapêutico , Atrofia Muscular Espinal/tratamento farmacológico , Atrofias Musculares Espinais da Infância/tratamento farmacológico , Injeções EspinhaisRESUMO
Biallelic mutations in the TRAPPC12 gene are responsible for early-onset progressive encephalopathy with brain atrophy and spasticity (PEBAS). To date, three different allelic variants have been reported. Next-generation sequencing allowed discovery of unique alternations in this gene with different phenotypes. We report two patients carrying TRAPPC12 variants, one previously reported and one unknown mutation, with severe neurodevelopmental delay and brain atrophy. Standard clinical examination and cranial imaging studies were performed in these two unrelated patients. In addition, whole-exome sequencing was performed, followed by Sanger sequencing for verification. The first patient, a 2-year-old boy, was found to be homozygous for the previously reported c.1880C > T (p.Ala627Val) mutation. He presented with a phenotype including severe progressive cortical atrophy, moderate cerebellar atrophy, epilepsy, and microcephaly, very similar to the previously reported cases. The second case, a 9-year-old boy, carried a novel homozygous c.679T > G (p.Phe227Val) variant and presented with mild cortical atrophy, severe cerebellar atrophy, and neither clinically manifest epilepsy nor microcephaly, which were previously considered typical findings in PEBAS with TRAPPC12 mutations. Our findings suggest that clinical and brain imaging findings might be more variable than previously anticipated; however, a larger number of observations would benefit for broader phenotypic spectrum.
Assuntos
Encefalopatias/genética , Encefalopatias/patologia , Proteínas de Transporte Vesicular/genética , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Encefalopatias/diagnóstico por imagem , Criança , Humanos , Lactente , Masculino , Mutação , FenótipoRESUMO
Accuracy of transcript quantification with RNA-Seq is negatively affected by positional fragment bias. This article introduces Mix2 (rd. "mixquare"), a transcript quantification method which uses a mixture of probability distributions to model and thereby neutralize the effects of positional fragment bias. The parameters of Mix2 are trained by Expectation Maximization resulting in simultaneous transcript abundance and bias estimates. We compare Mix2 to Cufflinks, RSEM, eXpress and PennSeq; state-of-the-art quantification methods implementing some form of bias correction. On four synthetic biases we show that the accuracy of Mix2 overall exceeds the accuracy of the other methods and that its bias estimates converge to the correct solution. We further evaluate Mix2 on real RNA-Seq data from the Microarray and Sequencing Quality Control (MAQC, SEQC) Consortia. On MAQC data, Mix2 achieves improved correlation to qPCR measurements with a relative increase in R2 between 4% and 50%. Mix2 also yields repeatable concentration estimates across technical replicates with a relative increase in R2 between 8% and 47% and reduced standard deviation across the full concentration range. We further observe more accurate detection of differential expression with a relative increase in true positives between 74% and 378% for 5% false positives. In addition, Mix2 reveals 5 dominant biases in MAQC data deviating from the common assumption of a uniform fragment distribution. On SEQC data, Mix2 yields higher consistency between measured and predicted concentration ratios. A relative error of 20% or less is obtained for 51% of transcripts by Mix2, 40% of transcripts by Cufflinks and RSEM and 30% by eXpress. Titration order consistency is correct for 47% of transcripts for Mix2, 41% for Cufflinks and RSEM and 34% for eXpress. We, further, observe improved repeatability across laboratory sites with a relative increase in R2 between 8% and 44% and reduced standard deviation.
Assuntos
Perfilação da Expressão Gênica/métodos , Modelos Genéticos , Análise de Sequência de RNA/métodos , Algoritmos , Biologia Computacional , Humanos , Modelos Estatísticos , RNA/análise , RNA/genética , RNA/metabolismoRESUMO
This study investigated the possible presence of sensory-motor developmental impairments in preschool children with epilepsy and explored epilepsy impact on their activities and quality of life and on the stress load of their family. Study participants were children aged 2-6years diagnosed with epilepsy without any other comorbidities (epi-only children). The instruments used for assessment included the Neurological, Sensory, Motor, Developmental Assessment (NSMDA) scale for sensory-motor development, the Impact of Childhood Neurologic Disability Scale (ICNDS), and the Impact of Pediatric Epilepsy Scale (IPES) for disease impact on disability and Quality of Life (QoL), as well as the Pediatric Outcomes Data Collection Instrument (PODCI) for functional health status, and the Parental Stress Scale (PSS) for the family stress load. Required data were obtained from direct testing or observation of children's activities and mother-supplied answers to questions. Eighty-two children were investigated. The NSMDA scores were in the normal development range 6-8. Significant moderate impact of the disease on disability and QoL was estimated with the ICNDS and IPES instruments. The PODCI scores were similar to healthy population levels except for the happiness dimension which was better for children with epilepsy. PSS were significantly above normal. The functional health and QoL of the children as well as their family stress were found to be positively correlated with increasing age. It is found that epilepsy does not degrade neuromotor development and functional health status of preschool epi-only children, though it has a significant impact on their neurological disability and QoL and the stress level of their families; this impact seems to decrease with age.
Assuntos
Epilepsia/psicologia , Pais/psicologia , Qualidade de Vida/psicologia , Estresse Psicológico/psicologia , Fatores Etários , Criança , Pré-Escolar , Feminino , Nível de Saúde , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
AIM: The aim of this study was to investigate the physiological and biochemical parameters of children who are experiencing breath-holding spells (BHS) and to compare the function of their autonomic nervous systems with those of healthy children. PATIENTS AND METHODS: A total of 30 children (age range, 6 months-5 years) admitted for BHS were included in the study. The control group consisted of 30 age-matched and gender-matched healthy children. Each participant underwent a detailed physical examination as well as a laboratory evaluation. Echocardiography, electrocardiography (ECG), and electroencephalography were performed in the study group. The pilocarpine eye test was administered to each participant to detect autonomic dysfunction. RESULTS: No statistically significant differences were found between the groups for mean age, gender, and anthropometric measurements, nor for the biochemical parameters, including hemoglobin concentration, hematocrit, serum iron, transferrin saturation, ferritin, vitamin D, and vitamin B12 levels (p = 0.05). Compared with the control group, the study group showed significantly abnormal hypersensitivity of pupils after instillation of pilocarpine into their eyes (p = 0.01). CONCLUSION: Autonomic dysfunction existed in the children with BHS, but no correlation was found between BHS and deficiencies of iron, vitamin D, or vitamin B12.
Assuntos
Doenças do Sistema Nervoso Autônomo/diagnóstico , Sistema Nervoso Autônomo/fisiopatologia , Suspensão da Respiração , Anemia Ferropriva , Biomarcadores , Contagem de Células Sanguíneas , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pilocarpina , Transferrina/análise , Vitamina B 12/análise , Vitamina D/análiseRESUMO
PURPOSE: To compare PwPOMS and healthy controls in terms of respiratory functions, respiratory muscle strength, and fatigue, and investigate the determining role of fatigue on respiratory parameters. METHODS: Twenty-five PwPOMS and 15 healthy controls were included in the study. Maximum inspiratory pressure (MIP) and expiratory pressures (MEP) were measured. Respiratory functions were evaluated using spirometry, and predicted values were recorded for FEV1, FVC, FEV1/FVC, and PEF. Fatigue levels were assessed using the Pediatric Quality of Life Inventory Multidimensional Fatigue Scale (PedsQL-MFS). RESULTS: The FEV1%pred (p = 0.022), PEF%pred (p = 0.003), MIP (p = 0.001), and MEP (p = 0.019), cognitive fatigue self-reported score of PedsQL-MFS (p = 0.037), sleep-rest fatigue (p = 0.034), cognitive fatigue (p = 0.010), and total score (p = 0.005) of PedsQL-MFS Proxy Report were significantly decreased in PwPOMS compared with their healthy peers. Regression analysis showed that the general fatigue of self-reported PedsQL-MFS was a determinator for FEV1%pred (ß= -0.467) and PEF% (ß= -0.553), and total score PedsQL-MFS was a determinator for FEV1/FVC %pred (ß= -0.599). CONCLUSION: PwPOMS had decreased respiratory muscle strength, FEV1, and PEF, with preserved FEV1/FVC and higher fatigue levels than their healthy peers. In addition, self-reported fatigue had a determining role in respiratory functions but not respiratory muscle strength in PwPOMS. This trial is registered on ClinicalTrials.gov under "NCT05123924" available at: https://clinicaltrials.gov/ct2/show/NCT05123924 .
RESUMO
BACKGROUND: Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed. METHODS: Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded. RESULTS: Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings. CONCLUSIONS: Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.
Assuntos
Imageamento por Ressonância Magnética , Humanos , Masculino , Feminino , Criança , Pré-Escolar , Adolescente , Seguimentos , Progressão da Doença , Lactente , Atrofias Olivopontocerebelares/patologia , Atrofias Olivopontocerebelares/diagnóstico por imagem , Atrofias Olivopontocerebelares/fisiopatologia , Eletroencefalografia , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Fenótipo , Espasticidade Muscular/fisiopatologia , Espasticidade Muscular/diagnóstico por imagem , Doenças CerebelaresRESUMO
OBJECTIVE: The studies about autonomic nervous system (ANS) disorders in adult migraineurs show conflicting results with limited data on ANS function in childhood and adolescence. This study aimed to investigate ANS function in childhood migraine. PATIENTS AND METHODS: The migraine and control groups consisted of 35 migraineurs and 30 healthy children, respectively. In both groups, heart rate interval variation (RRIV) and sympathetic skin response (SSR) were used as noninvasive ANS function tests. RESULTS: No significant differences in age and gender distribution were found between the study and control groups. A family history of migraine was seen in 65% patients in the study group and 20% in the control group. The duration, quality, frequency, and location of pain were variable; only 14.1% of the patients had sensory and visual aural symptoms. There was neither a significant difference in RRIV and SSR between migraine and control groups (p > 0.05) nor in heart rate responses to deep breathing (p = 0.83). The mean amplitude of SSR in children with migraine was smaller than that in the control group, but it did not reach a level of statistical significance. CONCLUSIONS: In children with migraine, our results demonstrate no abnormal ANS function related to either the sympathetic or the parasympathetic nervous system.
Assuntos
Doenças do Sistema Nervoso Autônomo/complicações , Frequência Cardíaca/fisiologia , Transtornos de Enxaqueca/diagnóstico , Adolescente , Sistema Nervoso Autônomo/fisiopatologia , Criança , Feminino , Resposta Galvânica da Pele/fisiologia , Humanos , Masculino , Transtornos de Enxaqueca/complicações , Transtornos de Enxaqueca/fisiopatologia , Tempo de Reação/fisiologiaRESUMO
BACKGROUND: Patients with pediatric-onset multiple sclerosis (PwPOMS) frequently experience motor, sensory, and cognitive problems. Although exercise is known to be effective in adult patients with MS, there are still no studies investigating the effectiveness of exercise in PwPOMS. To examine the effectiveness of online exercise training on physical activity, muscle strength, functionality, gait, fatigue, and quality of life in PwPOMS. METHODS: Twenty-one individuals were included and randomly divided into two groups. The online exercise training program (OETP) group received exercise training including aerobics, strengthening, and balance training for 8 weeks, and the control group received no intervention. Outcomes were assessed at baseline, 8 weeks, and 32 weeks. RESULTS: Significant improvements were recorded in physical activity, muscle strength, functionality, gait, fatigue, and quality of life in the OETP group after treatment (p<0.05). Between groups, the OETP group was superior to the control group in terms of physical activity, muscle strength, functionality, and quality of life (p<0.05). The OETP group remained superior to the control group in follow-up. CONCLUSION: OETP performed under the supervision of a physiotherapist is effective in PwPOMS. Even if these patients have no disabilities, it would be beneficial to refer them to rehabilitation from an early period.
Assuntos
Esclerose Múltipla , Adulto , Humanos , Exercício Físico , Terapia por Exercício , Fadiga/etiologia , Fadiga/terapia , Marcha , Esclerose Múltipla/reabilitação , Qualidade de VidaRESUMO
OBJECTIVE: To investigate functional exercise capacity and its relationship between physical activity levels, muscle strength, balance, fatigue, and quality of life in patients with pediatric-onset multiple sclerosis. METHODS: Fifteen patients with pediatric-onset multiple sclerosis were included. The 6-minute walk test was used to determine functional exercise capacity and walking distance. The Godin Leisure-Time Exercise Questionnaire and pedometer were used to evaluate physical activity, Timed-Up and Go for dynamic balance, isokinetic testing for lower extremity muscle strength, Fatigue Severity Scale for fatigue, and the Pediatric Quality of Life Inventory (PedsQL) for quality of life. RESULTS: The 6-minute walking distance was positively correlated with GLTEQ and the School-Work subgroup score of the PedsQL-Self-report, and negatively correlated with Timed-Up and Go and Fatigue Severity Scale. Dynamic balance, physical activity, and fatigue were significant predictors of 6-minute walking distance. CONCLUSIONS: Our results showed that 6-minute walk test is influenced by physical activity, dynamic balance, and fatigue, and related to quality of life in patients with pediatric-onset multiple sclerosis.
Assuntos
Esclerose Múltipla , Criança , Fadiga/etiologia , Humanos , Qualidade de Vida , Teste de Caminhada , Caminhada/fisiologiaRESUMO
The present study was designed to evaluate the significance of echocardiography versus cardiac troponin I levels in early detection of anthracycline dependent cardiotoxicity in acute lymphoblastic leukemia (ALL) patients. A total of 276 pediatric ALL patients were included in the study prospectively along 3 phases of data collection lasted from 2002 to 2009; including phase I (March 2002 to February 2003; n = 25; 53.3% females), phase II (September 2003 to April 2004; n = 35; 57.1% females), and phase III (January 2005 to June 2009; n = 216; 52.7% females) with respect to cumulative anthracycline doses applied. Anthracycline was administered in accordance with berlin-Franfurt-Munich (BFM)-2000 protocol in doses of 30 to 350 mg/m(2) (in the first phase) and 30 to 240 mg/m(2) (in the following phases). Evaluation of cardiotoxicity was performed via echocardiography and measurement of cardiac troponin I levels. Patients in each phase were homogenous in terms of gender and age. Diastolic dysfunction determined via reduction E/A ratio below the cutoff value was demonstrated to deteriorate earlier than systolic functions and alteration in cardiac enzymes. Being similar between dose groups, cTnI levels were shown to rise in the presence of congestive heart failure. In conclusion, anthracycline cardiotoxicity appears to be detected in an earlier stage by using diastolic parameters compared to systolic parameters and cardiac enzymes.
Assuntos
Antraciclinas/efeitos adversos , Antibióticos Antineoplásicos/efeitos adversos , Ecocardiografia/métodos , Coração/efeitos dos fármacos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Troponina I/sangue , Criança , Pré-Escolar , Diástole/efeitos dos fármacos , Diagnóstico Precoce , Feminino , Seguimentos , Insuficiência Cardíaca/induzido quimicamente , Humanos , Lactente , Masculino , Leucemia-Linfoma Linfoblástico de Células Precursoras/fisiopatologia , Prognóstico , Estudos Prospectivos , Sístole/efeitos dos fármacosRESUMO
BACKGROUND: The Severe Acute Respiratory Syndrome-CoV2 outbreak was announced a pandemic by the World Health Organization on March 11th, 2020. Both the pandemic itself and the restrictions were thought to create some psychological problems especially in patients with chronic illnesses such as Multiple Sclerosis (MS). This study was conducted to evaluate the impact of SARS-CoV2 pandemic on daily lives of children with MS, and the anxiety status of these patients and anxiety - depression status of their parents. METHODS: This study was performed on a group of pediatric MS patients aged 8-18 years in Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty, and Child Neurology Department. Thirty patients with MS and their 30 parents were enrolled to the study. The control group consisted of 49 healthy, age- and sex-matched children and their 49 parents. The patients (and their parents) were asked to complete a web-based survey evaluating access to health care and other changes in daily life between March 11th, 2020 and June 1st, 2020. The State-Trait Anxiety Inventory (STAI) [which is composed of two parts; S-anxiety (STAI-S) and T-anxiety (STAI-T)] was administrated to the patients and healthy controls and the results were compared between the two groups to assess their anxiety levels. The Hospital Anxiety and Depression Scale (HAD) [which is composed of two parts; HAD-anxiety (HAD-A) and HAD-depression (HAD-D)] was also given to all parents. The results of the HAD tests were compared between the two groups statistically. RESULTS: The results of the web-based survey showed that 4 of 9 (44.4%) patients, who had a regular workout program, left the program and 13 (43.3%) patients put on weight during the pandemic. Twenty-two patients (73.3%) could not get direct exposure to sunlight because of the curfew. Therefore, approximately half of the patients started to take vitamin D supplement. Most of the patients (80%) thought that they had higher risk and believed that they would have severe symptoms compared to healthy people. Twenty one (70%) patients disrupted their regular health checks and the most frequent causes were identified as closure of policlinics to routine patient care (33%) and concerns of getting SARS-CoV2 infection (26,6%). Two of 3 patients who had an MS attack did not go to the doctor during this period. The mean STAI-S scores in MS patients were significantly higher compared to the healthy controls (p=<0.001). The level of S-anxiety in all patients was higher compared to the cut off value.The mean HAD A score was found to be significantly higher in them compared to the parents of healthy individuals (p = 0.001). CONCLUSION: Our results showed that children with MS had negative changes in daily life and high anxiety levels during the pandemic. Since MS patients have also psychiatric comorbidities, they may need psychosocial support especially in this period. Besides, establishment of separate health centers to be used during pandemics for children with chronic illnesses such as MS may be recommended to facilitate access to health care.
Assuntos
COVID-19 , RNA Viral , Adolescente , Ansiedade/epidemiologia , Criança , Depressão/epidemiologia , Humanos , Pais , SARS-CoV-2RESUMO
AIM: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. METHODS: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed. RESULTS: Of the 34 cases identified, 31 were confirmed (91.2%). Eighteen patients (55.9%) were boys. The median patient age was 4 years (interquartile range 2.5-6.9 years). Most of the patients were admitted in 2018 (n = 27). A preceding history of a febrile illness was reported in all patients, with a median of 4 days (interquartile range 3-7 days) before symptom onset. Thirty-one patients had T2 hyperintensity on spinal MRI, and 18 patients had cerebrospinal fluid pleocytosis. The most common infectious agents were entero/rhinoviruses (n = 5) in respiratory specimens. All patients except one received immunotherapy either alone or in combination. Among 27 patients with follow-up data 24 had persistent weakness. Involvement of four limbs together with an abnormal brain MRI at onset were associated with a poor prognosis. CONCLUSION: The number of patients with acute flaccid myelitis increased since 2012, spiking with every 2-year interval, largely in the pediatric population. The median age decreases with every outbreak. Clinicians should be aware of the clinical picture for early collection of specimens and early start of rehabilitation programs. Further studies are needed to better characterize the etiology, pathogenesis, risk factors, and treatment of this rare condition.
Assuntos
Viroses do Sistema Nervoso Central/diagnóstico , Viroses do Sistema Nervoso Central/epidemiologia , Viroses do Sistema Nervoso Central/patologia , Surtos de Doenças , Mielite/diagnóstico , Mielite/epidemiologia , Mielite/patologia , Doenças Neuromusculares/diagnóstico , Doenças Neuromusculares/epidemiologia , Doenças Neuromusculares/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Turquia/epidemiologiaAssuntos
Hallux/anormalidades , Deficiência Intelectual/diagnóstico , Unhas Malformadas/diagnóstico , Polegar/anormalidades , Cariótipo Anormal , Encéfalo/patologia , Pré-Escolar , Humanos , Deficiência Intelectual/genética , Imageamento por Ressonância Magnética , Masculino , Unhas Malformadas/genética , FenótipoRESUMO
Spontaneous intracranial hypotension (SIH) is a rare and potentially serious condition in childhood. Cerebrospinal fluid (CSF) volume depletion is thought to be the main causative feature for intracranial hypotension and results from a spontaneous CSF leak, often at the spine level. SIH is increasingly diagnosed in clinical practice, although it manifests a varied symptomatology. The downward displacement of the brain, sometimes mimicking a Chiari I malformation, has rarely been reported. We present a case of a SIH with Chiari I malformation accompanied by an unusual clinical presentation of persistent hypoglycemia.
Assuntos
Malformação de Arnold-Chiari/diagnóstico , Vazamento de Líquido Cefalorraquidiano/diagnóstico , Hipoglicemia/diagnóstico , Hipotensão Intracraniana/diagnóstico , Adolescente , Malformação de Arnold-Chiari/etiologia , Vazamento de Líquido Cefalorraquidiano/complicações , Diagnóstico Diferencial , Feminino , Humanos , Hipoglicemia/complicações , Hipotensão Intracraniana/complicações , SíndromeRESUMO
Non epileptic paroxysmal events are recurrent movement disorders with acute onset and ending, which may mimic epilepsy. The duration, place, timing of the attacks, and state of conciousness may confuse pediatricians about the diagnosis of epilepsy and non epileptic paroxysmal events. The key point in the diagnosis is taking an accurate and detailed history. Wrong diagnosis can give rise to anxiety of both the family and the child, interruptions in the child's education, limitations in career planning, and irreversible damages in the long term. The diagnosis can prevent unnecessary drug use and psychological damage. This review aims to discuss the clinical findings, treatment, and differential diagnoses of non epileptic paroxysmal events, and to increase awareness about non epileptic paroxysmal events among pediatricians.
RESUMO
Valproic acid is an effective, frequently used anticonvulsant drug. Typical adverse effects include weight gain, hair loss, and nausea. Hyperpigmentation, onycholysis, and onychomadesis are nail changes that can be seen after valproic acid use. Changes occur at the distal and proximal portions of the nail bed in onycholysis and onychomadesis, respectively. Onychomadesis is a very rare disease of childhood with the exception of systemic and genetic diseases. Here, we present a child aged 23 months, the youngest and the earliest isolated patient with onychomadesis, which occurred after valproic acid treatment and worried the family but resolved spontaneously. The improvement of this very rare adverse effect of antiepileptic drugs after cessation of valproic acid without treatment is emphasized.
RESUMO
BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously. AIMS: To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases. STUDY DESIGN: Case-control study. METHODS: The study includes 78 consecutive patients diagnosed with neurofibromatosis type 1 between June 2010 and June 2014 and 50 healthy controls. Baseline demographic data were generated from patient examination record forms, including age, sex, height, and weight, as well as levels of free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase and anti-thyroglobulin levels. RESULTS: Mean age, sex, and body mass index were similar in both groups (p>0.05). The mean levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were not statistically different between the neurofibromatosis type 1 and control groups. Similarly, no statistically significant difference was observed between the neurofibromatosis type 1 and control groups for anti-thyroid peroxidase and anti-thyroglobulin positivity (2.5% vs 0%, p>0.05). CONCLUSION: Screening for autoimmune thyroid disease and thyroid function seems to be unnecessary in patients with neurofibromatosis type 1.
Assuntos
Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Exame Físico/métodos , Testes de Função Tireóidea/métodos , Tireoidite Autoimune/diagnóstico , Autoanticorpos/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Feminino , Humanos , Masculino , Neurofibromatose 1/fisiopatologia , Guias de Prática Clínica como Assunto , Tireoidite Autoimune/etiologia , Tireoidite Autoimune/fisiopatologia , Tireotropina/sangue , Tiroxina/sangue , Tri-Iodotironina/sangue , TurquiaRESUMO
PURPOSE: Mild neurocognitive disabilities are commonly observed in children with neurofibromatosis type 1 (NF-1). Enlargement of the corpus callosum (CC) is one of the findings in NF-1, but the pathogenesis has not yet been clarified. In this study, we investigated whether diffusion tensor imaging (DTI) features of CC differed between children with NF-1 and healthy control subjects, and we tried to evaluate the association between the microstructural integrity of CC and neurocognitive disabilities, based on apparent diffusion coefficient (ADC) and fractional anisotropy (FA) values. MATERIALS AND METHODS: The study population consisted of 37 children with NF-1 and 31 healthy controls. Midsagittal CC surface area measurements were obtained from volumetric sagittal T1-weighted turbo spin echo images. FA and ADC values were obtained from the genu and splenium of CC. The results were compared to that of controls. The correlations between neurocognitive test results and measurements of ADC, FA, and surface areas of midsagittal CC in NF-1 patients were investigated. RESULTS: Total CC area in children with NF-1 was significantly larger than healthy controls. ADC values obtained from the genu of CC were significantly higher in NF-1 children. A negative correlation was observed between the ADC values of the genu of the CC and the arithmetic and digit span scores and between the FA values of the genu and coding scores in children with NF-1. CONCLUSION: The DTI changes in the genu of CC in children with NF-1 may indicate subtle structural damage, although conventional MRI is normal. ADC and FA changes in the genu may be due to loss of axonal integrity and vasogenic-like edema in the axons responsible for some intellectual functions. DTI may help clarify the underlying pathophysiology of CC changes in relation to neurocognitive function disorders in children with NF1.