Search

Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study.The records of patients diagnosed with epilepsy before the age of 2 years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively. Those diagnosed with an IEM and followed up in the pediatric neurology and pediatric metabolism departments of our hospital were included in the study.A total of 990 patients under the age of 2 years were diagnosed with epilepsy in the pediatric neurology clinic of our hospital and 74 (7.5%) of them had IEM. Thirty-nine (52.7%) of the 74 patients were female. The median age at admission was 144 days (min-max: 0-284). Of the 74 patients diagnosed with metabolic epilepsy, 38 patients were diagnosed with amino acid metabolism disorder, 17 with lysosomal storage disease, 9 with energy metabolism disorder, 5 with vitamin/cofactor/trace element metabolism disorders, 2 with fatty acid metabolism disorder, 2 with peroxisomal disease, and 1 with carbohydrate metabolism disorder. Epilepsy was refractory despite appropriate treatment in 39 patients (52.7%).Inborn errors of metabolism are a rare cause of epilepsy, in regions like our country with high rates of consanguineous marriage, IEM should be considered in patients presenting with seizures that do not respond to conventional antiepileptic treatments.

Background and Aim: Although anyone can be affected by the COVID-19 pandemic, it may cause additional concern for people with chronic conditions. Epilepsy is the most common neurological disease in childhood and adolescence. The aim of this study was to determine anxiety levels among the mothers of children under follow-up for epilepsy in our clinic during the COVID-19 pandemic. Methods: The study group consisted of the mothers of epilepsy patients who were under follow-up in the pediatric neurology outpatient clinic of the tertiary care center and were scheduled for a routine examination during the COVID-19 pandemic. The mothers’ anxiety levels according to the Beck Anxiety Inventory and their opinions about COVID-19 in relation to their child were assessed and compared based on whether the mother/patient attended their appointments in person and whether the child had frequent or infrequent seizures. Results: There was no statistically significant difference in anxiety level between the mothers of 64 children with epilepsy who attended their appointment during the pandemic and those of the mothers of 52 who did not attend their appointment. However, the mothers of children with frequent seizures had significantly higher anxiety levels. Conclusion: Anxiety level of mothers whose children have frequent seizures was significantly higher compared to mothers whose children have infrequent seizures. It is important to be aware about this point and using telemedicine approach in suitable population and postpone routine outpatient follow-up appointments as much as possible.

Purpose Motherhood is the greatest privilege that nature gives to women. Although pregnancy is a physiological event for women, every pregnancy is a risky pregnancy. During a normal pregnancy, the health of mother and baby are monitored. In post-transplantation pregnancies, the function of the transplanted organ, along with the mother and the infant, must be monitored, since the continuation of pregnancy depends on both the maternal and infant health and an organ functioning within normal limits. The desire is for every baby to be born in due time and at normal weight, but this is not always possible in pregnancies after transplants. Publications about the pharmocokinetics of tacrolimus are very limited. In this study, we wanted to share our experiences with pregnancy in our clinic. Material and method Patients who used tacrolimus during their pregnancies after renal transplantation (RT) at Antalya Medicapark Organ Transplantation Unit, during November 2008 to July 2018 were included in the study. Patient’s gestational age, pregnancy, drug levels, is charge, and labor creatinine clearances were examined. Findings Four thousand six hundred thirty-five RT occurred between November 2008 to July 2018; 786 of the patients were female between the ages 18 and 45. Thirty-one pregnancies went full term. Twenty-six pregnant women, who used tacrolimus after RT, were included in the study. Five patients had pre-eclampsia, 1 patient had abortus immines, 2 patients had hypertansion due to pregnancy, and 1 patient had aplated placenta. There was a breech presentation in 1 patient with preeclampsia. Acute rejection developed in 3 postpartum patients, but renal values normalized with medical treatment. All the babies were born alive and healthy; postpartum graft loss was not observed. Conclusion If planning to become pregnant after RT,our center recommends waiting at least 2 years after the RT, when graft function should be normal and without any signs of HT and proteinuria. Our recommendation regarding the level of tacrolimus after RT is 4.5 to 7 μg.

Aim Longitudinally extensive transvers myelitis (LETM) is a rare and disabling condition in childhood. The aim of the present study was to share experiences from our center regarding the treatment features and clinical and radiologic course in our LETM patients in light of the literature data. Material and method The study was designed as cross-sectional and included children who followed for LETM at our pediatric neurology clinic between 2010 and 2019. ATM was diagnosed according to the diagnostic criteria report from the Transverse Myelitis Consortium Working Group. LETM was defined as the presence of spinal cord lesions spanning a length of 3 or more consecutive vertebral segments. The patients’ medical records were examined in terms of demographic characteristics, presenting symptoms, history of infection prior to and during LETM, prodromal history, neurological examination, laboratory and radiological findings, clinical course, and treatment. The Barthel Index was used to assess the physical independence in activities of daily living of patients with LETM who were followed for at least one year. Results A total of 15 (8 girl) patients were included in the study. The patients were between 1 and 17 years of age. Presenting symptoms included inability to walk in 12 patients, incontinence in 9 patients, low back pain in 4 patients, abdominal pain in 2 patients, and inability to use the arms in 2 patients. In Barthel Index assessment of physical independence in activities of daily living, 8 patients were evaluated as completely independent, 3 patients as moderately dependent, and 2 patients as slightly dependent. When the 4 patients with motor area impairment and moderate dependency according to the Barthel Index were examined, it was noted that all of them had been admitted 4 days after the onset of symptoms and that 2 (13.3%) had cervicothoracic involvement and 2 (13.3%) had involvement of the entire cord. Conclusion Shorter delay from symptom onset to initiation of immunomodulatory therapy as well as effective rehabilitation resulted in favorable outcomes, with the most noticeable improvement in the areas of motor function and incontinence.

Background/aim Acute necrotizing encephalopathy is a rare type of acute encephalopathy characterized by multi-ocal brain lesions and associated severe neurological findings and various organ dysfunctions may accompany it. Materials and methods Patients with acute necrotizing encephalopathy of childhood diagnosed by pediatric neurology and pediatric intensive care at Sami Ulus Maternity, Child Health and Diseases Training and Research Hospital between 2007 and 2020 were included in this study. Results Nine patients (six females, three males) with a mean age of 4.05 ± 1.94 years (age range 1–6.5) were included in this study. The interval range between fever and encephalopathy in patients was 1–4 days. Influenza A (3H1N1, one untyped) was detected in four patients, influenza B in three patients, and no cause was found in two patients. Major clinical findings other than febrile encephalopathy in all patients were a hemodynamic shock in seven patients, seizures in six patients, vomiting in five patients, dystonia in three patients, and flaccid paralysis in the upper extremity in one patient. Despite all our treatment approaches, including plasmapheresis, moderate to severe neurological sequelae was observed in all of our patients, who survived even with significant radiological improvement. Three patients for whom we could not perform plasmapheresis died. Conclusion Our study revealed that thalamic involvement increased as the interval shortened, and brainstem involvement increased in patients over four years of age. The presence of persistent vomiting accompanying encephalopathy during the parainfectious period and plasmapheresis treatment being a treatment option that could prevent mortality were cautionary for our study.

This study aimed to describe the electroclinical spectrum and neurocognitive outcome in children with epileptic encephalopathy with status epilepticus during sleep (ESES) according to the EEG patterns.Records of 48 (19 males, 29 females) patients with ESES/CSWS syndrome were retrospectively evaluated for data on sleep and awake EEGs, psychometric tests, and brain MRI. Patients with a spike-wave index (SWI) of at least 50 % in the NREM sleep EEG were included in the study. Electrophysiologic findings were separated into two groups based on SWI: SWI85-100 % (typical ESES) and SWI 85 % (atypical ESES). The neurocognitive prognosis was also evaluated in two groups; favorable and unfavorable.The median age at the onset of ESES was 6 years and 5 months and ranged from 3 to 13 years. The median duration of follow-up after the ESES diagnosis was 57 months (range 24-150 months). Etiology was evaluated in three groups: symptomatic/structural, idiopathic, and unknown (cryptogenic). Twenty-seven (56.25 %) patients had atypical ESES patterns and 21 patients (43.75 %) had typical ESES patterns. Twenty-eight patients (58.3 %) had cognitive deterioration. Long term neurocognitive outcome was unfavorable in half of the patients. Symptomatic/structural etiology was more common in patients with unfavorable (p 0.001) outcomes. The median age at the diagnosis of ESES (p 0.001) was significantly earlier in the patients with unfavorable neurocognitive outcomes. The longer duration of ESES(p 0.001), and the longer time between the onset of epilepsy and ESES (p = 0.039) was significantly associated with unfavorable outcomes. We found that patients with typical ESES had a higher risk for poor neurocognitive outcomes than patients with atypical ESES (OR: 31.096 [1.565-617.696]).The long-term outcome of ESES is exceedingly variable. An unfavorable neurocognitive outcome seems to be related to ESES with a long-duration and early-onset epileptic activity, SWI ≥ 85 %, and etiology.

Summary Background & aims This study was designed to assess clinical characteristics and nutritional status of pediatric outpatients with cerebral palsy (CP) and to determine prevalence of malnutrition based on physicians' clinical judgment and on anthropometric data in relation to percentile reference values. Methods A total of 1108 pediatric neurology outpatients (mean ± SEM age: 7.2 ± 0.1 years, 59.3% were males) diagnosed with CP were included in this cross-sectional, non-interventional multicenter single-visit study conducted between October 2015 and July 2016 at 20 centers across Turkey. Data on patient and CP characteristics, concomitant nonneuromotor impairments and gastrointestinal disorders as well as anthropometrics, outcome of nutritional status assessment (via physicians' clinical judgment and Gomez classification and Waterlow classification of anthropometric data) and physician's view on nutritional care in CP patients were collected at a single visit. Results The most common CP etiology was asphyxia (62.5%). The most common clinical category was spastic CP (87.5%) with quadriplegic (54.0%) topography and level V gross motor dysfunction (45.4%) in most of patients. The prevalence of malnutrition was considered to be 57.2% based on physicians' clinical judgment, while shown to be 94.3% (3rd degree in 86.7%) according to Gomez classification of Neyzi weight for age (WFA) percentiles and to be 91.3% (severe in 88.3%) according to Waterlow classification of Neyzi height for age (HFA) percentiles. Conclusions In conclusion, our findings revealed high prevalence of malnutrition, while also emphasize the likelihood of overestimation of malnutrition in children with CP when anthropometric assessment was based on use of growth charts for general pediatric population. This large-scale survey provided valuable data regarding nutritional assessment practice and malnutrition prevalence among children with CP in Turkey, which may be utilized for future proactive strategies in the prevention and treatment of malnutrition in this population.

Background and Aim Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. Methods This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. Results The study sample consisted of 154 ASD patients; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P Conclusion Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.

BACKGROUND We aimed to investigate the reliability of the Alvarado score (AS) in determining acute appendicitis and the different parameters that affect the AS. METHODS Three hundred and thirteen patients suspected of acute appendicitis (AA) aged 18-70 years were included in this study. Patient data including AS calculated from emergency services and at discharge, follow-up, and operations were recorded. Patients were divided into three groups according to the AS, as AS