ABSTRACT
ABH8, the protein encoded by the ALKBH8 gene, modifies tRNAs by methylating their anticodon wobble uridine residues. The variations in the ALKBH8 gene are associated with the "intellectual developmental disorder, autosomal recessive type 71" (MIM: 618504) phenotype in the OMIM database. This phenotype is characterized by global developmental delay, facial dysmorphic features, and psychiatric problems. To date, 12 patients from five distinct families carrying variants of the ALKBH8 gene have been reported in the literature. In the present study, we report the first Turkish family harboring a novel homozygous missense variant, NM_138775.3:c.1874G > C (p.Arg625Pro), in the last exon of the ALKBH8 gene. Two affected siblings in this family showed signs of global developmental delay and intellectual disability. Based on the dysmorphological assessment of the cases, fifth finger clinodactyly and fetal fingertip pads were prominent, in addition to the dysmorphic findings similar to those reported in previous studies. Minor dysmorphic limb anomalies in relation to this phenotype have not yet been previously reported in the literature. Our computational studies revealed the potential deleterious effects of the Arg-to-Pro substitution on the structure and stability of the ABH8 methyltransferase domain. In the present report, the first Turkish family with an ultrarare disease associated with the ALKBH8 gene was reported, and a novel deleterious variant in the ALKBH8 gene and additional clinical features that were not reported with this condition have been reported.
Subject(s)
Intellectual Disability , Humans , AlkB Homolog 8, tRNA Methyltransferase/genetics , Developmental Disabilities/genetics , Intellectual Disability/genetics , Intellectual Disability/diagnosis , Mutation, Missense/genetics , Phenotype , RNA, Transfer/geneticsABSTRACT
BACKGROUND: Autoimmune limbic encephalitis in children occurs most frequently in those with antibodies against the N-methyl-D-aspartate glutamatergic receptor. We report the case of a 14-year-old girl who was diagnosed with antileucine-rich glioma-inactivated protein 1 limbic encephalitis. CASE: A fourteen years old, previously healthy girl applied to the emergency department with suspicion of dystonic seizure, ataxia, gait disturbance and speech disorders. Serum sample of the patient was positive for leucine-rich glioma inactivated protein 1 IgG. CONCLUSIONS: Although it is a rare disease in childhood, in the presence of new onset psychotic symptoms or altered mental state, concomittant hyponatremia and unique type of seizures, anti leucine-rich glioma inactivated protein 1encephalitis should be considered in differential diagnosis.
Subject(s)
Encephalitis , Glioma , Limbic Encephalitis , Adolescent , Antibodies , Autoantibodies , Child , Encephalitis/diagnosis , Female , Humans , Intracellular Signaling Peptides and Proteins , Seizures/etiologyABSTRACT
We aimed to determine the morphological and histological effects of zonisamide, sultiam, lacosamide, clobazam, and rufinamide on ovarian folliculogenesis in rats. Sixty female Wistar rats were divided into six experimental groups as control, zonisamide, sultiam, lacosamide, clobazam, and rufinamide groups; control solution and drugs were administered by gavage for 90 days. The number of healthy follicles in the control group was significantly higher than in the anti-medication groups (p < 0.001), and the number of corpus luteum was significantly lower (p < 0.001). There was a significant difference in the number of TUNEL positive apoptotic follicles between the control and drug groups (p < 0.001). With EGF, IGF-1, and GDF-9 staining, a very strong immunoreaction was observed in the ovarian multilaminar primary follicle granulosa cells and oocytes in the control group compared to the drug group (p < 0.001). Long-term anti-seizure medication with zonisamide, sultiam, lacosamide, clobazam, and rufinamide from prepubertal to adulthood causes apoptosis and disruption of folliculogenesis in the ovarian follicles of nonepileptic rats.
Subject(s)
Clobazam , Animals , Female , Lacosamide/therapeutic use , Rats , Rats, Wistar , Thiazines , Triazoles , Zonisamide/therapeutic useABSTRACT
OBJECTIVE: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. METHODS: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment. The long-term effectiveness of the drug, overall seizure outcomes, and overall therapeutic outcomes were evaluated during 12 months of therapy. RESULTS: Analysis of initial efficacy after the first three months of clobazam therapy showed that 320 (18.7 %) patients were seizure-free, 683 (39.9 %) had > 50 % seizure reductions, and 297 (17.4 %) had < 50 % seizure reductions. A positive response (seizure-free and >50 % seizure reduction) was determined for focal-onset (62.3 %) seizures, epileptic spasms (61.5 %), and generalized onset seisures (57.4). The highest positive response rate among the epileptic syndromes was for self-limited epilepsy with centrotemporal spikes (SeLECTS). The highest negative response rate was for developmental and/or epileptic encephalopathies (DEEs). Magnetic resonance imaging (MRI) revealed a structural etiological diagnosis in 25.8 % of the cohort. A higher positive response rate was observed at MRI in patients with sequelae lesions than in those with congenital lesions. The seizure recurrence rate was higher in the patient group with epilepsy with genetic and metabolic causes, in individuals with more than one seizure type, and in those using three or more antiseizure drugs. CONCLUSIONS: This cohort study provides additional evidence that clobazam is an effective and well-tolerable drug with a high seizure-free rate (18.7 %), a significant seizure reduction rate (57.3 %), and with excellent overall therapeutic outcomes with a low seizure relapse rate and considerable reversible benefits in the pediatric population.
Subject(s)
Epilepsy , Spasms, Infantile , Anticonvulsants/adverse effects , Child , Clobazam/therapeutic use , Cohort Studies , Epilepsy/diagnosis , Humans , Retrospective Studies , Seizures/chemically induced , Seizures/drug therapy , Spasms, Infantile/diagnosis , Treatment OutcomeABSTRACT
PURPOSE: To examine the effects of the COVID-19 pandemic on the lifestyle, habits, and behavioral differences in children, and their changing internet use habits. METHODS: The research was planned as a cross-sectional study involving 4892 children aged 8 to 17 years attending schools in the city center of Trabzon, Turkey. Children's daily living activities, social habits, mood and temperament changes, and internet use were investigated before and during the pandemic. In terms of problematic internet use, internet addiction rates were evaluated using the validated Turkish-language version of the Parent-Child Internet Addiction Scale (PCIAT-20). RESULTS: The children's mean age was 13 ± 2.45 years, and 17.1% (n = 837) exhibited problematic internet use features on the PCIAT-20. Problematic internet use was higher in boys and in children older than 13 years. The presence of COVID-19 infection among members of the household, quarantine measures, attending private schools, the mother's occupation, the time spent by the mother and father on their mobile phones, and high parental education levels were associated with a high level of internet addiction. Families also described significant changes in their children's temperament and character compared with the pre-pandemic period. CONCLUSION: The prevalence of problematic internet use increased during the COVID-19 pandemic compared with previous studies from Turkey. Children were also more introverted, irritable, and pessimistic during the pandemic.
Subject(s)
COVID-19/prevention & control , Health Knowledge, Attitudes, Practice , Internet Addiction Disorder/psychology , Adolescent , COVID-19/psychology , Child , Cross-Sectional Studies , Female , Humans , Internet Addiction Disorder/complications , Male , Prevalence , TurkeyABSTRACT
BACKGROUND: Amitriptyline ingestion is an important cause of poisoning morbidity and mortality in Turkey and other countries. In contrast to adults, data concerning amitriptyline intoxication in children are limited. The purpose of this study was to investigate amitriptyline intoxication findings in the pediatric population, based on age groups and reported dosages. METHODS: The medical records of 192 patients admitted to the Karadeniz Technical University Medical Faculty Farabi Hospital Pediatric Emergency Department, Turkey, due to amitriptyline intoxication in 1997-2017 were examined retrospectively. Patients were divided into 6 groups based on amitriptyline doses and 4 groups based on age. Complete blood count, blood glucose, serum electrolytes, renal and liver function tests, coagulation tests (prothrombin time and partial thromboplastin time), and blood gas analysis were studied in all patients. Electrocardiography was performed on all children, and chest radiography and electroencephalography on those with respiratory or central nervous system symptoms. RESULTS: Amitriptyline intoxication was most frequently observed between the ages of 1 and 4 years. The most common signs and symptoms observed at time of hospital admission were lethargy and drowsiness (45.3%), sinus tachycardia (19.2%), and nausea and vomiting (13%). The most common laboratory finding was hyperglycemia (17.7). Six patients were intubated because of respiratory failure, and mechanical ventilation was initiated in these cases. One patient with amitriptyline overdose had persistent supraventricular tachycardia. Four children died due to amitriptyline intoxication. CONCLUSIONS: Tricyclic antidepressant intoxication is a leading cause of mortality and morbidity in children. It is therefore particularly important to identify the clinical and laboratory findings that develop with high-dose consumption.
Subject(s)
Amitriptyline , Antidepressive Agents, Tricyclic , Adult , Child , Child, Preschool , Humans , Infant , Retrospective Studies , Tertiary Care Centers , Turkey/epidemiologyABSTRACT
AIM: Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children. METHODS: The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4-18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being scored twice, at 15-day intervals, by a pediatric neurologist. Intraclass correlation coefficients were used for inter-rater and intra-rater reliability. The Scale for the Assessment and Rating of Ataxia was used for concurrent validity. RESULTS: Good to excellent reliability was determined among the nine observers in terms of total scores with the intraclass correlation coefficient among the nine observers (intraclass correlation coefficient = 0.926; 95% CI: 0.885-0.956). Intra-rater reliability analysis results exhibited strong reliability in terms of scores elicited at two-week intervals (intraclass correlation coefficient = 0.967; 95% CI: 0.890-0.987, r = 0.97, p < 0.001). At concurrent validity analysis, a strong relation was determined between total Scale of the Assessment and Rating of Ataxia score and total Brief Ataxia Rating Scale score (r = 0.942, p < 0.001). CONCLUSION: The Turkish-language adaptation of the Brief Ataxia Rating Scale is reliable and valid for application in children.Implications for RehabilitationThis study shows the reliability and validity of the Turkish language adaptation of brief ataxia rating scale in children.The scale being both practical and easily applicable to ataxic children will contribute to broadening its use in the pediatric age group in particular.
Subject(s)
Ataxia , Language , Adaptation, Physiological , Ataxia/diagnosis , Child , Humans , Reproducibility of ResultsABSTRACT
INTRODUCTION: Fluid intake was reported to reduce migraine attacks. This may be due to its effect on hemoconcentration. Hemoconcentration may manifest itself by increasing in the hemoglobin and platelet-related values. This study aimed to reveal hemoconcentration by evaluating complete blood cell counts in attack-free periods of pediatric patients with migraine. MATERIALS AND METHODS: Consecutive children with migraine (n = 70) and tension-type headache (TTH) (n = 65) were compared with the control groups. Control 1 (n = 70) and control 2 (n = 60) groups consisted of age- and gender-matched patients, respectively. Control 2 group patients had gastrointestinal symptoms leading to fluid loss, which may have caused hemoconcentration. To evaluate hemoglobin and platelets together, the M1-value was created by multiplying hemoglobin level by plateletcrit. RESULTS: The M1-value was higher in the migraine group than in control 1 and TTH groups (P = 0.017 and 0.034) and the hemoglobin and hematocrit levels were also higher in the migraine group than in control 2 group (P = 0.013 and 0.012). Female patients with migraine had higher hemoglobin levels as compared to the female patients in control group 1 (P = 0.041). Male patients with migraine had higher M1-values than the male patients in control group 1 (P = 0.034). In the subgroup of migraine with aura (n = 10), folic acid was significantly lower than the other patients with migraine (P = 0.02). CONCLUSION: This study suggests that migraine may be accompanied with hemoconcentration in children.
ABSTRACT
BACKGROUND: Wernicke`s encephalopathy (WE) is a coenzyme-induced disease with acute neuropsychiatric symptoms leading to high mortality and morbidity due to thiamine deficiency. WE is mostly caused by alcoholism in adult populations; however, it is often associated with gastrointestinal surgical procedures, recurrent vomiting, chronic diarrhea, cancer and chemotherapy treatment, systemic diseases, drugs, magnesium deficiency, and malnutrition in children. Although these predisposing factors are considered to be uncommon in children, they are actually highly frequent and can be fatal if not treated promptly. CASE: In this report, we present a patient who developed diplopia during total parenteral nutrition following surgical resection and was diagnosed with WE. The findings of the patient's cranial magnetic resonance imaging (MRI) findings were consistent with those of WE and the ocular findings of the patient resolved completely after thiamine treatment. CONCLUSION: Although WE is rare in children it can be prevented by early diagnosis and treatment and oculomotor findings such as diplopia can be a warning sign.
Subject(s)
Hirschsprung Disease , Thiamine Deficiency , Wernicke Encephalopathy , Adult , Child , Diplopia , Humans , Magnetic Resonance Imaging , Thiamine , Wernicke Encephalopathy/diagnosis , Wernicke Encephalopathy/etiologyABSTRACT
The purpose of this study was to compare HMGB-1, TLR4, IL-1ß, IL-1R1, and TNF-α levels in patients with mild and severe epilepsy with those in a healthy control group. Children aged 4-17 years, diagnosed with epilepsy for at least three years and with no progressive neurological disease, metabolic disease or infection, were selected for the study. The severe epilepsy group consisted of 28 children with at least one episode a week despite receiving three or more antiepileptic drugs. The mild epilepsy group consisted of 29 children with no seizures in the previous year, receiving only one antiepileptic drug, while 27 healthy children were selected as the control group. HMGB-1, TLR4, IL-1R1, TNF-α and IL-1ß levels were investigated in these three groups. The MRI findings and clinical characteristics of the patients in the epilepsy group were also compared with these markers. HMGB-1, TLR4, TNF-α, and IL-1ß levels in the severe epilepsy group were higher than in the control group and the mild epilepsy group (p<0.05), and were higher in the mild epilepsy group than in the control group (p<0.05). IL-1R1 was also higher in the severe epilepsy group than in the control group (p<0.05). In this first report to identity a possible correlation between HMGB-1, TLR4, IL-1ß, IL-1R1, and TNF-α levels and severity of epilepsy, our data demonstrates that the serum level of these cytokines is higher in cases of drug-refractory epilepsy.
Subject(s)
Epilepsy/blood , Epilepsy/diagnosis , Epilepsy/physiopathology , HMGB1 Protein/blood , Inflammation/blood , Interleukin-1beta/blood , Toll-Like Receptor 4/blood , Tumor Necrosis Factor-alpha/blood , Adolescent , Biomarkers/blood , Child , Child, Preschool , Drug Resistant Epilepsy/blood , Drug Resistant Epilepsy/diagnosis , Drug Resistant Epilepsy/physiopathology , Female , Humans , Male , Severity of Illness IndexABSTRACT
Sag E, Kamasak T, Kaya G, Çakir M. A rare clinical association: Barth syndrome and cystic fibrosis. Turk J Pediatr 2019; 61: 134-138. Barth syndrome (BS) is a rare X-linked recessive metabolic disorder characterized by cardiomyopathy, hypotonia, neutropenia, growth retardation and 3-methylglutaconic aciduria type II. Cystic fibrosis is a common autosomal recessive genetic disorder in Caucasians. Herein, we reported a rare clinical association in an infant diagnosed based on clinical and genetic analysis. A six-month old boy admitted with chronic steatorrhea. The diagnosis of cystic fibrosis was made after clinical and laboratory examinations. Fifteen days later, the patient was presented with restlessness and moaning. He had hypoglycemia and lactic acidosis. The patient died three hours after the admission. Pedigree analysis revealed similar sudden infant deaths in close relatives. Postmortem genetic analysis revealed the diagnosis of Barth syndrome. This is the first case of the association of Barth syndrome with cystic fibrosis. Our case reinforces the importance of pedigree analysis and postmortem examinations.
Subject(s)
Barth Syndrome/diagnosis , Barth Syndrome/genetics , Cystic Fibrosis/diagnosis , Mutation , Transcription Factors/genetics , Acidosis, Lactic/etiology , Acyltransferases , Fatal Outcome , Humans , Hypoglycemia/etiology , Infant , Male , Pedigree , Steatorrhea/etiologyABSTRACT
OBJECTIVE: To investigate the potential toxic effects of levetiracetam monotherapy on ocular tissues in cases of pediatric epilepsy using optical coherence tomography (OCT). METHODS: Thirty epileptic children (group 1) receiving levetiracetam monotherapy at a dosage of 20-40 mg/kg/day for at least 1 year with a first diagnosis of epilepsy and 30 age- and gender-matched healthy children (group 2) were included in the study. In addition to a detailed eye examination, peripapillary retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC) thickness, foveal thickness (FT), and central corneal thickness (CCT) were measured in all children by means of spectral domain OCT. The data obtained from the two groups were then subjected to statistical analysis. RESULTS: The mean age of both groups was 12 ± 3.64 years [1-12]. The mean duration of levetiracetam in group 1 was 24.07 ± 12.82 months. Mean RNFL values in groups 1 and 2 were 106.1 ± 10.42 and 104.98 ± 10.04 µm, mean GCC values were 94.72 ± 6.26 and 94.4 ± 6 µm, mean FT values were 240.73 ± 17.94 and 240.77 ± 15.97 µm, and mean CCT values were 555.1 ± 44.88 and 540.97 ± 32.65 µm, respectively. No significant difference was determined between the two groups in terms of any parameter. Best corrected visual acuity values of the subjects in both groups were 10/10, and no color vision or visual field deficit was determined. CONCLUSION: Levetiracetam monotherapy causes no significant function or morphological change in ocular tissues in pediatric epilepsies.
Subject(s)
Anticonvulsants/adverse effects , Epilepsy/diagnostic imaging , Epilepsy/drug therapy , Levetiracetam/adverse effects , Optic Disk/diagnostic imaging , Tomography, Optical Coherence/methods , Child , Child, Preschool , Female , Humans , Infant , Male , Optic Disk/drug effects , Retina/diagnostic imaging , Retina/drug effects , Single-Blind MethodABSTRACT
OBJECTIVES: The hippocampus is susceptible to damage in patients with epilepsy and in animals with seizures caused by excitotoxic agents. The effect of vitamin D on hippocampal apoptosis related with seizures has not been reported. However, epileptic patients have an increased risk of hypovitaminosis D which is most likely due to the effects of antiepileptic drugs. Therefore, in this study, it was aimed to evaluate the effects of vitamin D on hippocampal apoptosis related with seizures by using pentylenetetrazol (PTZ) and kainic acid (KA) in rats. METHODS: Male Sprague Dawley rats, aged 5.5 weeks, were randomly divided into six groups: control, vitamin D, PTZ, KA, PTZ + vitamin D and KA + vitamin D groups. The groups that received vitamin D were given 500 IU/kg of vitamin D daily for two weeks in addition to a standard diet. At the end of this period, PTZ and KA were applied to trigger seizures in the rats in the seizure groups. 24 h after the administration of PTZ and KA, the rats were decapitated. In the hippocampal region, apoptosis was assessed by TUNEL and brain-derived neurotrophic factor (BDNF), Bax, caspase-3 and c-fos activation were evaluated by immunohistochemical method. RESULTS: BDNF level increased while c-fos, Bax and caspase-3 levels decreased (p < 0.0001, in all) in the hippocampal neurons of the groups that were pre-treated with vitamin D before the administration of PTZ and KA, in comparison with the PTZ and KA groups. Vitamin D significantly decreased the number of apoptotic cells in these rats in comparison with the PTZ and KA groups (p < 0.0001). CONCLUSION: This study indicates that vitamin D has neuroprotective effects on hippocampal apoptosis induced by PTZ and KA in rats. With this study it is suggested that keeping vitamin D levels within normal limits may be beneficial for patients with epilepsy, especially children.
Subject(s)
Apoptosis/drug effects , Hippocampus/pathology , Neurons/drug effects , Neuroprotective Agents/therapeutic use , Seizures/pathology , Vitamin D/therapeutic use , Animals , Brain-Derived Neurotrophic Factor/metabolism , Caspase 3/metabolism , Convulsants/toxicity , Disease Models, Animal , In Situ Nick-End Labeling , Kainic Acid/toxicity , Male , Neuroprotective Agents/pharmacology , Pentylenetetrazole/toxicity , Proto-Oncogene Proteins c-fos/metabolism , Rats , Rats, Sprague-Dawley , Seizures/chemically induced , Seizures/drug therapy , bcl-2-Associated X Protein/metabolismABSTRACT
BACKGROUND: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that typically starts in early childhood. This study describes characteristic clinical and magnetic resonance imaging (MRI) findings of six cases of BTBGD diagnosed with newly identified mutations and genetically confirmed, with very early and different presentations compared to cases in the previous literature. METHODS: Six patients referred from different centers with similar clinical findings were diagnosed with BTBGD with newly identified mutations in the SLC19A3 gene. Two novel mutations in the SLC19A3 gene were identified in two patients at whole exome sequencing analysis. The clinical characteristics, responses to treatment, and electroencephalography (EEG) and MRI findings of these patients were examined. The other four patients presented with similar clinical and cranial MRI findings. These patients were therefore started on high-dose biotin and thiamine therapy, and mutation analysis concerning the SLC19A3 gene was performed. Responses to treatment, clinical courses, EEG findings and follow-up MRI were recorded for all these patients. RESULTS: Age at onset of symptoms ranged from 1 to 3 months. The first symptoms were generally persistent crying and restlessness. Seizures occurred in five of the six patients. Cranial magnetic resonance imaging revealed involvement in the basal ganglia, brain stem, and the parietal and frontal regions in general. The first two patients were siblings, and both exhibited a novel mutation of the SLC19A3 gene. The third and fourth patients were also siblings and also exhibited a similar novel mutation of the SLC19A3 gene. The fifth and sixth patients were not related, and a newly identified mutation was detected in both these subjects. Three novel mutations were thus detected in six patients. CONCLUSION: BTBGD is a progressive disease that can lead to severe disability and death. Early diagnosis of treatable diseases such as BTBGD is important in order to prevent long-term complications and disability.
Subject(s)
Basal Ganglia Diseases/diagnostic imaging , Basal Ganglia Diseases/genetics , Brain/diagnostic imaging , Early Diagnosis , Membrane Transport Proteins/genetics , Adult , Age of Onset , Brain/pathology , DNA Mutational Analysis , Female , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Middle Aged , Mutation , Siblings , Young AdultABSTRACT
PURPOSE: Although some drugs used in the treatment of epilepsy are known to affect body weight, the hormonal factors responsible have not been sufficiently described. The purpose of this study was to compare insulin, leptin, neuropeptide Y and ghrelin levels in children with epilepsy receiving monotherapy with topiramate (TPM) and valproic acid (VPA), the drugs whose effects on body weight have been most discussed, with those of a control group. METHOD: 48 patients (25 VPA, 23 TPM) aged between 6 and 15.5 years, presenting to the Karadeniz Technical University Medical Faculty Pediatric Neurology Clinic, diagnosed with idiopathic epilepsy or location-related idiopathic epilepsy, and receiving VPA or TPM monotherapy for at least 6 months were included in the study. Twenty-five healthy subjects with similar demographic characteristics were enrolled as the control group. Blood samples were collected from the patient and control groups after fasting for at least 10-12â¯h and again 1 and 2â¯h postprandially. Body mass index (BMI) values were calculated for all cases. VPA levels, glucose, insulin, leptin, neuropeptide Y and ghrelin were investigated in all three separate blood samples. RESULTS: Age, height, weight and BMI were similar between the patient and control groups. Significant weight gain was observed throughout treatment in the VPA group compared to the TPM group. High fasting and postprandial insulin levels were observed in the VPA group. VPA group leptin and neuropeptide Y (NPY) levels were also higher than in the TPM and control groups. No significant difference was determined in ghrelin levels in the patient groups compared to the controls. CONCLUSION: Low blood sugar not being observed, even though insulin levels are high, after fasting and in the postprandial period in epileptic children receiving VPA is indicative of insulin resistance. The elevation in leptin and neuropeptide Y levels observed in the VPA group also suggest this.
Subject(s)
Anticonvulsants/therapeutic use , Epilepsy/blood , Epilepsy/drug therapy , Fructose/analogs & derivatives , Valproic Acid/therapeutic use , Adolescent , Anticonvulsants/adverse effects , Biomarkers/blood , Blood Glucose/drug effects , Body Mass Index , Child , Fructose/adverse effects , Fructose/therapeutic use , Ghrelin/blood , Humans , Insulin/blood , Leptin/blood , Neuropeptide Y/blood , Topiramate , Treatment Outcome , Valproic Acid/adverse effects , Weight Gain/drug effectsABSTRACT
Wernicke encephalopathy is an acute neurological problem resulting from thiamine deficiency and manifesting with mental confusion, oculomotor dysfunction, and ataxia. It is associated with alcohol dependence in adults. Preparatory factors include hyperemesis gravidarum, prolonged diarrhea, prolonged parental nutrition without vitamin support, absorption disorders, anorexia, cancer, and chemotherapy. Failure to consider the clinical findings and preparatory factors of this disease, which is rare in children, can delay diagnosis. This report describes a case of Wernicke encephalopathy developing in a patient with brid ileus and receiving total parenteral nutrition after partial ileal bypass surgery. The patient's clinical and cranial magnetic resonance findings were compatible with Wernicke encephalopathy. Although these are not widespread, typical ocular findings for Wernicke encephalopathy were present. Dramatic improvements were observed in clinical, ocular, and cranial magnetic resonance findings after treatment.
Subject(s)
Digestive System Surgical Procedures/adverse effects , Parenteral Nutrition, Total/adverse effects , Thiamine/therapeutic use , Wernicke Encephalopathy/etiology , Brain/diagnostic imaging , Child , Female , Humans , Ileus/surgery , Magnetic Resonance Imaging , Wernicke Encephalopathy/diagnosis , Wernicke Encephalopathy/drug therapySubject(s)
Adrenal Gland Neoplasms/surgery , Adrenalectomy/methods , Gait Ataxia/etiology , Ganglioneuroma/surgery , Adrenal Gland Neoplasms/complications , Adrenal Gland Neoplasms/diagnostic imaging , Biopsy, Needle , Child, Preschool , Follow-Up Studies , Gait Ataxia/diagnosis , Ganglioneuroma/complications , Ganglioneuroma/diagnostic imaging , Humans , Immunohistochemistry , Magnetic Resonance Imaging/methods , Male , Treatment Outcome , TurkeyABSTRACT
BACKGROUND/AIM: In recent years ischemia-modified albumin (IMA) has been suggested as a marker that can be used in differentiating nonconvulsive conditions from epilepsy. The purpose of this study was to investigate changes in IMA levels caused by generalized clonic tonic (GTC) seizures. MATERIALS AND METHODS: A total of 114 children presenting to the Karadeniz Technical Pediatric Emergency Polyclinic with GTC seizures were included in the study. Sixteen cases meeting the inclusion criteria were included in the study and sixteen healthy children were enrolled as the control group. The patients' IMA, albumin, and IMA/albumin values at hours 0 and 1 following the episode were compared with control group values. RESULTS: IMA levels in the patient group were significantly higher at hour 1 compared to hour 0, and were also significantly higher than those of the control group levels at hour 1. In addition, the patient group IMA/albumin index value at hour 1 was significantly higher than the baseline value. IMA levels increased significantly with length of seizure. CONCLUSION: Although there were no markers of hypoxia in patients undergoing GTC seizures in this study, hypoxia was observed to develop, and this caused serum IMA levels to rise in line with seizure duration.
Subject(s)
Seizures/blood , Seizures/diagnosis , Biomarkers/blood , Case-Control Studies , Child , Diagnosis, Differential , Epilepsy, Tonic-Clonic/blood , Epilepsy, Tonic-Clonic/diagnosis , Female , Humans , Male , Serum Albumin, HumanABSTRACT
PURPOSE: Infantile spasm is an age-dependent epileptic syndrome seen in infancy or early childhood. Although studies have investigated the epilepsy-cytokine relationship, there has been insufficient research into the relation between cytokines and infantile spasm. The purpose of this study was to examine the role of cytokines in the pathogenesis of infantile spasm by investigating cytokine levels before and 1month after adrenocorticotropic hormone (ACTH) therapy in patients diagnosed with the condition. METHOD: Twenty patients aged between 1month and 2years and diagnosed with infantile spasm at the Karadeniz Technical University Medical Faculty Department of Child Health and Diseases Pediatric Neurology Clinic, Turkey, and 20 healthy children were included in the study. Patients received 11 doses of ACTH on 2days a week. Levels of TNF-alpha and IL-2, the main cytokines involved in inflammation and recently associated with infantile spasm, and of IL-1beta, IL-6 and IL-17A, associated with epileptic seizures, and serum levels of the IL-17A activator IL-23 were investigated in all patients at the start of treatment and 1month after completion of treatment. RESULTS: No statistically significant difference was observed between pre- and post-treatment patient group and control group IL-1beta, IL-2, IL-23 or TNF-alpha levels. Pre-treatment IL-6 and IL-17A levels were significantly higher in the untreated patient group compared to the healthy control group (p<0.001 and p=0.002). CONCLUSION: Our study supports the recent idea that IL-6 and IL-17A are cytokines involved in the pathogenesis of infantile spasm.