فهرست مطالب
Iranian Journal of Pediatrics
Volume:28 Issue: 6, Dec 2018
- تاریخ انتشار: 1397/09/08
- تعداد عناوین: 20
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Page 1ObjectivesVentricular septal defect (VSD) includes 40% of congenital heart diseases. Surgical closure of VSD is the most common procedure in pediatric cardiac surgery. Weight is the most restrictive factor for performing the surgery as it complicates the operation and post-operative care. The aim of this study was to determine the results of the surgery for the patients undergoing this procedure with the weight under 5 kilograms and to catch a good insight into performing surgery at lower age and weight.MethodsA retrospective study was conducted by operative and postoperative case note review of 54 patients from March 2014 to 2017. We assessed the outcomes of the early surgical closure of the ventricular septal defects.ResultsIn our study, the weight was 4.4 + 0.61 kilograms and the age was 5.72 + 2.22 months. Post-surgical result by echocardiography showed reduced immediate pulmonary artery pressure in all patients, other post-surgical evaluations showed 1 (1.9%) mild, 1 (1.9%) moderate to severe pericardial effusion, 1 (1.9%) first degree AV Block, 2 (3.7%) right bundle branch block and 4 (7.4%) complete heart block leading to permanent pace maker implantation. Significant myocardial stunning (ejection fraction < 40%) was noted in 6 (11.11%). The patient mortality in the first 30 days was zero and there was no post-operative immediate endocarditis, seizure, bleeding or cardiac arrest.ConclusionsObservations can prove increased ability, knowledge and techniques of the surgeons operating VSDs. Based on the outcomes, earlier surgical VSD closure is recommended.Keywords: Ventricular Septal Defect, Early Surgery, Outcomes
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Page 2BackgroundIncreased B-type natriuretic peptide (BNP) level is known as a predictive value for cardiac dysfunction in intensive care unit (ICU) patients.ObjectivesTo verify the association between BNP on admission and clinical outcomes including need for mechanical ventilatory/circulatory support and mortality in patients with heart failure (HF) in pediatric intensive care unit (PICU).MethodsMedical records of 132 HF patients admitted to PICU between February 2009 and August 2015 were reviewed for demographic, clinical, and laboratory data.ResultsAmong 113 patients who were finally included, mechanical ventilation (MV) and extracorporeal membrane oxygenation (ECMO) were used in 64 (56.6%) and 19 (16.8%) patients, respectively. Parameters associated with MV were high pediatric risk of mortality (PRISM) III score; highest vasoactive-inotropic score within 24 h of admission; elevated lactic acid, BNP, CK-MB, and troponin I levels. Parameters associated with ECMO were high PRISM III score, reduced left ventricular ejection fraction (LVEF), and elevated lactic acid and BNP levels. Only high PRISM III score and BNP were associated with mortality. The sensitivity and specificity of BNP with a cutoff value of 1848 pg/mL were 75.4% and 72.7% for MV and 89.5% and 50.0% for ECMO.ConclusionsIn ICU settings, BNP levels on admission may be useful biomarkers during critical decision making including the determination of mechanical ventilatory/circulatory support.Keywords: B-Type Natriuretic Peptide, Extracorporeal Membrane Oxygenation, Heart Failure, Mechanical Ventilator, Pediatric Intensive Care
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Thyroid Function Tests in Critically Ill Children; Any Correlation with Disease Severity or Outcome?Page 3BackgroundSick euthyroid syndrome (SES) is the most common endocrine disorder in critically ill patients. It has been shown that the decrease in T4 levels correlates with disease severity and prognosis. Whether SES is a compensatory response to the disease course or needs to be treated is not known yet.ObjectivesTo our knowledge, there are only a few studies on critically ill infants and children investigating the correlation between thyroid function and disease severity as well as its outcome. Therefore, this study aimed to investigate thyroid hormone levels in critically ill patients.MethodsIn this study, thyroid function tests including thyroid stimulating hormone (TSH), total T3 (TT3), free T3 (FT3), total T4 (TT4), free T4 (FT4), and reverse T3 (rT3) were measured in 35 critically ill children admitted to intensive care unit (ICU) on days 1 and 3 of admission. Disease severity was evaluated using pediatric logistic organ dysfunction score (PELOD). Then the patients were divided into groups of survivors and non-survivors and the results were compared between these two groups accordingly.ResultsThirty-five patients, including 19 (54.3%) female and 16 (45.7%) male, with the mean age of 2 years (SD: ± 3.8 years, range: 4 months - 15 years) had entered the study based on the inclusion criteria. 25 (71.6%) patients were transferred from PICU to other wards and 10 (28.4%) patients died. Age and sex were not statistically different in survivors and non-survivors (P > 0.05). It was revealed that there was a significant reduction in mean TT3 levels in non-survivors compared to survivors on the first day of admission (P = 0.007). On the third day of admission, however, a significant reduction in TT4 levels were seen in non-survivors (P = 0.03).ConclusionsThyroid function assessment, especially TT3 on the first day and TT4 on the third day of admission, along with PELOD score, might be helpful in predicting disease outcome and patient’s survival.Keywords: Thyroid Function Tests, Critically Ill Patients, PELOD Score
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Page 4ObjectivesTo investigate the incidence of hypomagnesemia, hypomagnesemia-associated risk factors, and the effect of hypomagnesemia effect on prognosis among patients followed at pediatric intensive care unit.MethodsThis study enrolled patients who were admitted to the Pediatric Intensive Care Unit between January and December 2017. Patients' admission serum Mg level was measured, and a level below 1.8 mEq/L was considered hypomagnesemia. Patients with hypomagnesemia were grouped as group 1 and those with normal serum magnesium level as group 2.ResultsA total of 59 (39.9%) of the 148 patients were female and 89 (60.1%) were male; the mean age was 62.82 ± 72.8 (min: 2 – max: 245) months. Compared with the normomagnesemic patients, those with hypomagnesemia had a greater mean age (P: 0.04), PRISM score (P: 0.015), duration of intensive care unit stay, (P: 0.001), mechanical ventilator need (P: 0.016) and the number of days connected to mechanical ventilator (P: 0.027), having nasogastric drainage (P: 0.02), and mortality rate (P: 0.041). No significant difference was found between the groups with respect to diuretic use. Increase risk of hypomagnesemia by nasogastric drainage was not significant (P: 0.082). The rates of hypokalemia, hypocalcemia, hypophosphatemia, and hypoalbuminemia were significantly greater in group 1 (P < 0.05). Hypokalemia increased the risk of hypomagnesemia by 5.13 times, hypophosphatemia by 21.8 times, hypoalbuminemia by 5.12 times, and nasogastric drainage by 3.01 times.ConclusionsIt should be noted that hypomagnesemia might be common and associated with mortality among patients admitted to pediatric intensive care units. Therefore, serum magnesium level should be closely monitored.Keywords: Magnesium, Critical Illness, Mortality, Risk Factor, Hypomagnesemia
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Page 5BackgroundHealth systems have adopted financing to enhance access to care for patients with cancer. The cost of acute lymphoblastic leukemia (ALL) treatment is a blurred image for hospitals and third party payers. The cost of each component of the care should be analyzed to differentiate justifiable cost and to act on wasteful practices.ObjectivesTherefore, this is a study on the direct and indirect costs of ALL based on the United Kingdom protocol (UKALL), in pediatric ALL management in Iran.MethodsA retrospective study design was used to study children with ALL managed with UKALL protocol in specialized pediatric hospitals from 2010 - 2015. The data was collected from patients’ medical records.ResultsTotal direct medical cost per patient was 8282 USD. Most of costs were from inpatient beds (3338 ± 1110 USD) and drug expenditures (2157 ± 1035 USD). The direct non-medical cost incurred by study participants was 1286.4 USD, the total indirect cost of productivity loss was 769.9.ConclusionsThe cost of ALL management imposed huge treat on financial capability of peoples caring for children. The treats will affect the whole society and the health system of the country unless strategies are designed to contain the costs. The policy makers from the top level of the country to the service providers should be hand and glove to devise a suitable national ALL management protocol which will avert the observed alarms.Keywords: Cost-Analysis, Acute Lymphocytic Leukemia, Pediatrics, UKALL
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Page 6BackgroundMultiple invasive procedures are routinely performed in diagnosis and treatment of hematologic/oncologic diseases. Because these procedures are painful, they may cause stress and anxiety in patients and their parents. Especially in patients with malignancies, the repeating procedures can lead to psychiatric disorders like depression and post-traumatic stress disorders. Therefore, general anesthesia is recommended during these invasive procedures for pain control.ObjectivesThe goal of this study was to evaluate safety and outcome of deep sedation with general anesthesia in hematology/oncology patients during invasive interventions in pediatric outpatient sedation unit.MethodsWe retrospectively analyzed records of 129 patients (59 girls and 70 boys) who had undergone 155 invasive procedures with general anesthesia. Patient demographics, reason of operations, anesthesia complications, duration of procedures, and time for recovery from anesthesia were recorded from anesthesia charts. Patients received ketamine (maximum dosage 2 mg/kg) plus midazolam, ketamine plus midazolam plus sevoflurane inhaler (sevoflurane inhaler was added when 2 mg/kg of ketamine was inadequate to obtain deep sedation) and sevoflurane inhaler in 140, 10 and 5 of operations, respectively.ResultsComplications occurred in 31 (20%) of these operations. Majority of complications were mild and included post-op agitation, vomiting and local pain which occurred in 6, 5 and 4 of the operations, respectively. Only 2 patients developed severe complications (fall off the stretcher and bronchospasm) which did not lead to any long term morbidity. The complication rate did not differ according to the anesthetic drugs, reason of operations or patient demographics.ConclusionsIn this group of patients, deep sedation with general anesthesia in an outpatient sedation unit, administered by trained professionals, was safe, quick, and effective for short-term invasive painful procedures.Keywords: General Anesthesia, Midazolam, Ketamine, Pain Management
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Page 7There is not enough evidence regarding the effects of trunk control on respiratory muscle strength and activities of daily living (ADL) in children with cerebral palsy (CP). This study was planned to investigate the effects of trunk control on respiratory muscle strength and ADL in children with spastic CP. A total of 34 children with spastic CP (M ± SD age, 9.3 ± 2.4 years) and 30 typical peers (M ± SD age, 9.7 ± 2.1 years) were included in the study. Trunk control was evaluated by the Trunk Control Measurement Scale (TCMS), ADL was evaluated by Pediatric Evaluation of Disability Inventory (PEDI), and respiratory muscle strength was evaluated by mouth pressure meter. The trunk control, respiratory muscle strength, and ADL of the children with spastic CP were significantly lower than their typically peers (P < 0.001, respectively). There were statistically significant correlations between the trunk control and maximum inspiratory pressure (MIP) (r = 0.503, P < 0.05), maximum expiratory pressure (MEP) (r = 0.465, P < 0.05), mobility subscale of Functional Skills Scale of PEDI (FSS-MS) (r = 0.570, P < 0.001), self-care subscale of Caregiver Assistance Scale of PEDI (CAS-SS) (r = 0.431, P < 0.05), mobility subscale of Caregiver Assistance Scale of PEDI (CAS-MS) (r = .607, P < 0.001), and Gross Motor Functional Classification System (GMFCS) (r = -0.522, P < 0.05) in children with spastic CP. In addition, MIP, MEP, PEDI FSS-MS, CAS-SS, and CAS-MS were independently predictors of trunk control in children with spastic CP. The results of this study demonstrate that trunk control in children with spastic CP is correlated positively to MIP, MEP values and their daily living activities and we suggest this should be taken into account when planning an intervention to improve the ability of daily living function for children with spastic CP.Keywords: Cerebral Palsy, Trunk Control, Respiratory Muscle Strength, Activities of Daily Living
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Page 8BackgroundSodium valproate is one of the widely used medications in the treatment of children with epilepsy. The aim of this study was to evaluate the possible role of sodium valproate on enuresis and urinary frequency in epileptic children in comparison to carbamazepine.MethodsIn this prospective cohort study, we enrolled epileptic children aged 5 to 14 years who met the exclusion criteria and were under monotherapy with sodium valproate or carbamazepine. All the cases were assessed for urinary complications during a period of one-year follow-up. Patients with urinary complications were tested for urinary tract infection and also for any urogenital anatomical abnormalities to avoid possible false positive results.ResultsFrom 290 patients who met the inclusion criteria, 254 cases were studied. It was showed that among 127 patients in sodium valproate group, 14 (11.02%) cases had enuresis while in 4 cases it was accompanied by urinary frequency. Among these 14 cases, 10 were treatment naives (new cases) (symptoms appeared after 6.1 ± 1.4 weeks) and the other four only had their medication dosage increased (symptoms appeared after 3.2 ± 0.9 weeks). In three cases, the dosage was reduced and in one case a medication was replaced with another. In all patients, however, the symptoms subsided within 10 - 30 days. On the other hand, no urinary complication was found in the carbamazepine group.ConclusionsThe results demonstrated that in children with epilepsy, enuresis and day-urinary frequency are two side effects of valproate and carbamazepine therapy that should be taken into consideration.Keywords: Valproic Acid, Carbamazepine, Enuresis, Epilepsy
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Page 9BackgroundThe true incidence of peripheral neuroblastic tumors (PNTs) in children is unknown. This study aims to review and analyze clinical data on the diagnosis and management of pediatric PNTs.MethodsBetween 2007 and 2016, a total of 43 pediatric patients admitted to our institute with PNTs were reviewed.ResultsThe series comprised of 23 males and 20 females with a median age of 1.2 years old. Among the 43 PNTs, 26 tumors originated from the abdomen, 13 from the thorax and four from other primary sites. A total of 16 tumors were identified in routine examinations. Abdominal pain and distension were the main clinical manifestations of abdominal PNTs, while coughing was the most frequent presenting symptom of thoracic PNTs. Elevated vanillylmandelic acid level in the urine over 24 hours was observed in 18 neuroblastoma cases and three ganglioneuroblastoma cases. Neuroblastoma was the most common type of PNT that was reported in 30 (69.8%) patients, followed by ganglioneuroblastoma, which was diagnosed in 11 (25.6%) patients. Only 2 (4.6%) patients were diagnosed with ganglioneuroma. A total of 12 cases were stage, six cases were stage II, three cases were stage III, 18 cases were stage IV, and four cases were stage IVs. The overall two year survival rate was 62.9%, which was related to pathological type, Shimada classification, stage, and primary site.ConclusionsPediatric PNTs have different clinical characteristics and outcomes. Imaging and laboratory data may be useful for the differentiation of PNTs. This study will help pediatric surgeons be aware of the possible manifestations of PNTs in children.Keywords: Children, Peripheral Neuroblastic Tumors, Neuroblastoma, Ganglioneuroblastoma
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Page 10BackgroundHead and neck masses are common in infants, children and adolescents. Etiologically, these masses are divided into three groups of inflammatory, congenital and neoplastic lesions. Their incidence rate has been variable in different parts of the world. This study aimed to determine the frequency of head and neck masses in Iranian children during a 21-year period.MethodsThis retrospective, descriptive study was performed on medical files of patients between 2 to 12 years with pathological head and neck masses derived from the archives of the Pathology Department of Children’s Medical Center of Tehran from 1995 to 2016. Age, gender, time of presentation, location of the lesions and final diagnosis were collected from patients' medical records and descriptively analyzed.ResultsOf 594 children, 63.3% were males and 36.7% were females (male to female ratio of 1.7:1, P < 0.001). The mean age was 6.5 years (range 2 years and 2 months to 12 years). The highest prevalence belonged to inflammatory/reactive/infectious lesions (41.7%) followed by neoplastic lesions (35.7%) and congenital/developmental lesions (22.6%). In the neoplastic group, malignant and benign lesions had 26.6% and 9.1% prevalence, respectively. Lymphoma (22.4%; 16.3% Hodgkin and 6.1% non-Hodgkin), lymphadenitis (16.2%) and thyroglossal cyst (11%) were the most prevalent lesions.ConclusionsBased on the results, inflammatory lesions had the highest incidence among the head and neck masses in children. Malignant lesions were not uncommon among Iranian children.Keywords: Mass, Head, Neck, Children, Neck, Malignancy
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Page 11BackgroundRespiratory distress syndrome (RDS) is a major acute postnatal pulmonary disease that influences mostly preterm neonates. Recently, the polymorphism of immunomodulatory genes has been suggested to be associated with RDS development.ObjectivesWe aimed at investigating the association of CNR2 gene Q63R polymorphism with the development of RDS.MethodsIn this multicenter case series study, we enrolled 300 preterm newborns. The RDS was diagnosed based on the clinical and radiographic findings. The polymerase chain reaction with sequence-specific primer method was used for genotyping.Results140 neonates out of 300 were diagnosed with RDS. The overall frequency of the QQ, QR, and RR genotypes of rs35761398 was 23.7%, 50.7%, and 25.6%, respectively. In the present study, the differences in birth weight, birth height, gestational age (GA), and the severity of respiratory distress were statistically significant between the two groups. We found no statistically significant differences in either allele (P = 0.624) or genotype (P = 0.461) distributions between the RDS patients and the healthy group.ConclusionsGestational age of < 28 weeks has the highest impact on predisposition to RDS. No association was found between rs35761398 and RDS in a group of Iranian preterm infants.Keywords: Respiratory Distress Syndrome, RDS, SNP, Cannabinoid Receptor 2, CNR2
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Page 12IntroductionLipoblastoma is a benign tumor that originates in the embryonal fat. This tumor can arise from various anatomical sites such as the extremities, trunk, and neck, but it rarely invades the spinal canal.Case PresentationWe describe a 3-year-old girl with a dumbbell-shaped lipoblastoma that extended into the cervical spine. Although she had no neurological deficit, we performed semi-total resection for decompression to the cord and avoid torticollis. Although a residual tumor was present, she recovered well and developed no neurological sequelae. We have selected a wait-and-see strategy for the residual tumor. She is now well-being more than four-years after the surgery.ConclusionsEarly surgical intervention and decompression of the tumor was effective to avoid neurological defects.Keywords: Lipoblastoma, Spinal Canal, Cervical Tumor
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Page 13Isolated major aortopulmonary collaterals are rare in healthy term neonates or infants without congenital heart disease; only a few cases have been reported with heart failure or recurrent lower respiratory tract infection in an otherwise structurally normal heart and there is no consensus about their treatment. We report a case with repeated pneumonia, failure to thrive, pulmonary hypertension, and shift of heart to right which is successfully managed by stage coil closure of collaterals.Keywords: Major Aortopulmonary Collateral, Pulmonary Hypertension
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Page 14BackgroundHigh-frequency oscillatory ventilation (HFOV) has been shown to result in less lung injury. HFOV is also used in critically ill newborns when conventional mechanical ventilation (CV) fails, especially in units with lack of nitric oxide (NO) and extracorporeal membrane oxygenation.ObjectivesThere are no recent data on the response of newborns to rescue HFOV (rHFOV) in the literature. The aim of this study was to evaluate the risk factors that affect the response to rHFOV in newborns who had CV failure in respiratory support.MethodsNewborns who still had a respiratory failure in case of CV and switched to rHFOV were grouped as survived and died. The characteristics of the patients such as birth weight (BW), gestational age (GA), and disease, in addition to ventilator settings, arterial blood gas analysis, ventilation duration, and side effects were compared between the groups.Results84 patients with a mean GA of 32.1 ± 5.3 weeks and a mean BW of 1901 ± 1135 g were enrolled in the study. The patients were switched to rHFOV at median 28.5 hours of life. Infants who died had lower BW (1345 ± 935 g vs. 2557 ± 1035 g, P = 0.0001) and lower GA (31.7 ± 4.9 weeks vs. 34.8 ± 4.4 weeks, P = 0.03) in comparison with infants who survived. Prematurity (OR: 7.73, 95% CI: 2.1 - 24.7, P = 0.001) and having BW < 1500 g (OR: 7.02, 95% CI: 2.6 - 18.6, P < 0.001) increased mortality significantly. Cut-off values for BW and GA were found to be 1875 g and 32.5 weeks with 75% sensitivity and 78% specificity. There were no differences in the initial ventilation settings between the groups and no correlation between the side effects such as intraventricular hemorrhage, retinopathy of prematurity, and bronchopulmonary dysplasia could be demonstrated with the duration of rHFOV.ConclusionsrHFOV in case of CV failure is more effective in patients with greater GA and BW, independent of the disease and initial rescue ventilator settings.Keywords: Conventional Mechanical Ventilation, High-Frequency Oscillatory Ventilation, Newborn, Preterm, Respiratory Failure, Rescue
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Page 16BackgroundThe aim of this study was to assess self-esteem in children and adolescents with growth hormone deficiency and to establish the factors influencing self-esteem in children and adolescents with growth hormone deficiency.MethodsThis cross-sectional study was carried out on 26 children and adolescents, aged 8 to 18, with a total growth hormone deficiency. The Cooper Smith self-esteem inventory was used in this study.ResultsPatients with growth hormone deficiency had low self-esteem in more than 50% of the cases. Among the studied factors influencing the self-esteem, such as school performance, disturbance in parent-child and peers-child relationships, perceived by parents, and parents’ acceptance of the illness, there was a correlation in most of the subscales.ConclusionsGrowth hormone impaired children and adolescents require psychological counseling and comprehensive care.Keywords: Growth Hormone Deficiency, Self-Esteem, Children, Adolescents
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Page 17BackgroundNeurodevelopmental disorders (NDDs) are developmental deficiencies that arise due to the damage of the central nervous system in the prenatal, natal, or postnatal period.ObjectivesThe aim of this study was to evaluate the motor performance and activities of daily living (ADL) and examine their relationship in children with NDDs who do not have physical disabilities.MethodsA total of 107 children who were diagnosed with NDDs, without physical disabilities, and 36 healthy peers between the ages of 4.5 years to 14.5 were included in this study. The subjects’ fine and gross motor skills were assessed with Bruininks-Oseretsky test of Motor Performance and ADL with WeeFIM (Functional Independence Measure).ResultsMotor performance and ADL were found to be affected in children with NDDs compared to their healthy peers even though they did not have a physical disability. Moderate or low correlations were found amongst 12 of 14 sub-tests of motor performance assessing various activities such as running, balance, coordination, and dexterity, as well as all parameters of WeeFIM in children with NDDs. Children with NDDs with better motor performance had less problems in ADL, were more independent, and had better social cognition and communication skills.ConclusionsImpairments found in motor performance and ADL show that even though children with NDDs, without physical disabilities, seem to be physically unaffected, it can be clearly seen that these children may have problems in coordination, motor control, and balance affecting their daily lives. Consequently, by improving motor performance, independence in ADL may be improved. In the light of these assessments, subjects with NDD’s must be included in physiotherapy and rehabilitation and occupational therapy programs in order to address the problems in motor performance and insufficiencies in ADL.Keywords: Neurodevelopmental Disorders, Motor Disorders, Activities of Daily Living, Perceptual Motor Performance
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Page 18ObjectivesThe study aimed to determine major clinical risk factors for seizures in febrile children aged 6 - 60 months.MethodsOne hundred seventy five febrile children aged 6 - 60 months with or without seizure were studied. Demographic, family history of epilepsy, family history of febrile seizure, type of parturition, smoking in pregnancy, infection diseases, and other predisposing factors were analyzed.ResultsAmong the 175 children (97 patients with febrile seizure as the case group and 78 febrile patients without seizure as the control group), 90 cases (51.4%) were female and 85 cases (48.6%) were male with the average age of 23.02 ± 17.78 months. There was no significant difference between the groups in age and sex (P = 0.05). Seizure was simple in 73 patients (75.3%) and complex in 24 patients (24.7%). There was a family history of febrile seizure in 24 patients of the case group (24.7%) and one patient of the control group (1.3%) (P < 0.001). There was a family history of epilepsy in 17 (17.5%) and three (3.8%) patients in the case and control groups, respectively (P = 0.005). The upper respiratory infection was detected more in the case group (P < 0.001). 62 patients (63.9%) of the case group and 30 patients (40%) of the control group were delivered via cesarean sections (P = 0.002). The family history of epilepsy, cesarean section, family history of FS, and upper respiratory tract infection were recognized as the risk factors for convulsion in febrile children with 11.35, 3.43, 25.33, and 6.26 odds ratios, respectively.ConclusionsThe family history of epilepsy, cesarean section, family history of febrile seizure, and upper respiratory tract infection are the most common risk factors for seizure in febrile children.Keywords: Seizures, Fever, Child, Risk Factor
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Page 19IntroductionEpilepsies associated with the KCNQ2 mutation are a spectrum of disorders, with clinical manifestations ranging from benign familial neonatal convulsion to early-onset epileptic encephalopathy, depending on the mutation type and location (such as up-stream control elements). Here, we report the case of an infant girl diagnosed with epilepsy due to a de novo mutation in KCNQ2 and more interestingly, complicated by supraventricular tachycardia.Case PresentationAn infant girl was diagnosed with epilepsy, with the following manifestations: Onset of seizures at three months; generalized tonic-clonic seizures, frequent at the beginning; status epilepticus, followed by psychomotor development retrogression; generalized spike, spike-slow, and slow waves observed during ictal electroencephalography (EEG), normal interictal EEG, and cranial magnetic resonance imaging. Seizures were controlled after administering valproic acid, and the patient exhibited normal psychomotor development eventually. Targeted next-generation sequencing identified a previously unreported de novo mutation in KCNQ2 [c.553G>A; p.(Ala185Thr)]. Interestingly, the patient also exhibited supraventricular tachycardia, confirmed by electrocardiography. Although we concluded that seizure was the convulsive syncope resulting from arrhythmia, we conceived a link between the two events, which has been called “cardiocerebral” channelopathy.ConclusionsA de novo mutation in KCNQ2 causes epilepsy and the concurrent arrhythmia may be linked with this mutation.Keywords: Epilepsy, KCNQ2, Mutation, De Novo, Supraventricular Tachycardia