Thrombotic thrombocytopenic purpura (TTP) is a rare, dangerous, life-threatening disease characterized by microangiopathic hemolytic anemia and thrombocytopenia, along with organ dysfunction due to microangiopathy-related ischemia. Plasma exchange and steroids are used for initial treatment, and rituximab is often used in refractive patients. Caplacizumab, cyclophosphamide, and splenectomy are among other treatment options. It has been reported that bortezomib, a proteasome inhibitor, can be used in the management of refractory acquired TTP. Herein, we present a 16-year-old female patient who was monitored for acquired TTP and treated with high-dose steroids, plasma exchange, rituximab, cyclophosphamide, and N-acetylcysteine but developed renal, cardiac, gastrointestinal, and neurologic complications. The girl was then successfully treated with bortezomib, and she has been monitored in remission for 6 months. We consider that bortezomib is a beneficial treatment, especially in patients with refractory TTP.

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.

Introduction: Duchenne Muscular Dystrophy (DMD) and Becker Muscular dystrophy (BMD), are chronic and progressive and rare genetic disorders that cause systemic involvement such as progressive muscle deterioration, motor disability, cardiomyopathy, and respiratory problems, with an increased risk of cognitive decline and psychological problems They are a group of neuromuscular diseases in which psychological problems affect negatively on quality of life (Qol) not only patients but also caregivers. This study demonstrates the clinical features of patients with DMD/BMD and their caregivers and compares controls with respects to psychological and social aspects. Materials and Methods: A total of 20 patients (3 with BMD and 17 with DMD), aged between 8 and 18 years, and 20 age-matched healthy children were included in this descriptive and cross-sectional study. The patients were evaluated by the pediatric neurology, cardiology, and psychiatry departments at the study time. Their demographic and clinical features were recorded. The Wechsler Intelligence Scale for Children-Revised (WISC-R), Pediatric Quality of Life Inventory (PedsQL) and its parent form, and the Strengths and Difficulties Questionnaire (SDQ) were applied to all of the participants. Results: The QoL scores were lower in patients with moderate and severe DMD/ BMD and their caregivers. In patients with DMD and in both groups, emotional symptoms, peer problems and prosocial behavior scores were higher in the subsets of the SDQ. The PedsQL child-parent scores were lower in all of the subsets with statistical significance. Conclusions: DMD and BMD comprise a group of chronic diseases with multiple complications that are difficult to manage. A QoL equal or close to that of the healthy children should be targeted. Today, proposed or experimental treatments for this disease group are assessed based on their ability to enhance QoL. Inquiring into the QoL and counseling should become routine. KeywordsDuchenne musküler distrofi, becker musküler distrofi, sağlıkla ilişkili yaşam kalitesi Anah tar ke li me ler Duchenne muscular dystrophy, becker muscular dystrophy, health-related quality of life

Background: The aim of this study was to identify the demographic-clinical variables affecting idiopathic epilepsy (IE) [called genetic generalized epilepsy (GGE)] recurrence and determine cut-off values that can be used in pediatric neurology practice for children with IE/GGE. Methods: A total of 250 children and adolescents with IE/GGE were included and retrospectively evaluated. The patients’ hospital records were examined in order to identify possible electro-clinical features affecting epilepsy recurrence. Results: The overall rate of recurrence in the patients was 46%; the age at onset of seizures in recurrence group was lower (P = 0.040) and the age at last seizure was higher in the recurrence group (P < 0.001) than that in the non-recurrence group. Other factors found to be related to recurrence were the shorter duration of the seizure-free period (P = 0.030), shorter interval between the last seizure and antiepileptic drug (AED) withdrawal (P = 0.003), shorter duration of AED withdrawal (P = 0.005), and the existence of abnormalities on sleep electroencephalogram (EEG) during AED withdrawal (P = 0.010) and at the 6th month of withdrawal (P < 0.001). According to receiver operating characteristic (ROC) analysis, the risk of IE recurrence was higher in children who were younger than 3.6 years old (sensitivity: 65.6%, specificity: 62.7%), children with a seizure-free period that was shorter than 35.5 months (sensitivity: 89.6%, specificity: 32.8%), and children whose drug withdrawal period was shorter than 4.5 months (sensitivity: 56.3%, specificity: 71.6%). Conclusion: This study defined some electro-clinical factors that could guide clinicians when deciding to withdraw AEDs with regard to recurrence risk after evaluating a homogenous population of children with a diagnosis of IE/GGE.

<b><i>Background and Aim:</i></b> 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. <b><i>Methods:</i></b> 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. <b><i>Results:</i></b> 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. <b><i>Conclusion:</i></b> 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.

AimsEvaluate somatic growth and neurodevelopmental outcome of late and moderate preterms at 11–12 years of age, research the effect of perinatal, neonatal, socioeconomic and cultural risk factors.MethodsModarate and late preterms monitored in Bakirkoy Obstetrics and Paediatrics Training and Research Hospital between the dates January and December 2004 were included in this study. Mother’s age, chronic diseases, premature rupture of membrans, placenta patologies, Apgar score were examined as perinatal risk factors. Duration of admission in intensive care unit, respiratory problems, intracranial haemorrhage, periventricular leukomalacia, sepsis, necrotizing enterocolitis, retinopathy of prematurity were assessed as neonatal morbidities. Full physical and detailed neurologic examination was performed on every patient. PEDS test, which examines families’ concerns about their children and PSC test examining behaviour problems were also performed. Wisc-r test was used to calculate verbal, performance and full scale intelligence quotient, Report grades were used to evaluate school performance, socioeconomic level was determined through a poll.ResultsWe examined 41 children (18 girls, 23 boys), mean age was 11,6 years. 5 cases (12,2%) were below tenth height percentile, 10 (24,4%) were below tenth weight percentile. Perinatal risk factors were not associated with verbal or numerical intelligence. As for neonatal morbidites; sepsis was associated with verbal intelligence, periventricular leukomalacia had a negative impact on verbal, performance and full scale intelligence. Socioeconomic level showed medium positive correlation with numerical and full scale intelligence. Children with concerned parents had significantly lower verbal, performance and full scale intelligence quotient, cases with a positive PSC score had a similar outcome. Girls had a better school performance, nevertheless there was no significant difference in intelligence quotient between two genders. As major neurologic deficits, three cases had mental retardation (Wisc-r score<70), one case was blind in one eye. Cases with major neurologic deficit had a lower full scale intelligence quotient and school performance.ConclusionsModarate and late preterms have a higher risk than terms in terms of somatic growth and neurodevelopment. Consequently, long term follow-up of moderate and late preterms, like early preterms, is crucial for early diagnosis, treatment and rehabilitation

Amaç: Orta/geç preterm doğan 11-12 yaşındaki çocukların nörogelişimsel sonuçlarını ve okul başarısını araştırmayı ve prognozu etkileyen risk faktörlerini belirlemeyi amaçladık. Hastalar ve Yöntem: Yenidoğan yoğun bakım ünitesinde Ocak 2004-Aralık 2004 tarihleri arasında izlenen orta ila geç preterm bebekler çalışmaya dahil edildi; çocuklar 2016 yılında hastanemiz pediatri polikliniğinde muayene edildi. Perinatal ve neonatal dönem öyküleri hastane veri tabanından elde edildi. Somatik büyüme özellikleri yorumlandı. Nörogelişim, Wechsler Çocuklar İçin Zeka Ölçeği (WISC-R) ölçeği kullanılarak değerlendirildi. Pediatrik Semptom Kontrol Listesi (PSC) uygulandı. Sosyoekonomik düzeyin nörogelişimsel sonuç üzerindeki etkisi incelendi. Okul performansı karne notları kullanılarak değerlendirildi. Bulgular: Yaş ortalaması 11.6 olan 41 çocuk değerlendirildi. Somatik büyüme ile ilişkili risk faktörleri anne yaşı (>35 yaş), fetal distres ve patent duktus arteriyozus idi. Sepsis, sözel zekada bir azalma ile ilişkilendirildi; periventriküler lökomalazi hem sözel hem de performans zekası üzerinde olumsuz etkilere sahipti. Sosyoekonomik düzey, performans ve tam ölçekli zeka ile orta düzeyde bir korelasyon gösterdi. PSC puanı pozitif olan çocukların zeka bölümü anlamlı olarak daha düşüktü. Sonuç: Orta ila geç preterm bebekler, beynin tam olgunlaşmaması ve doğum sorunları nedeniyle hem nörolojik hem de gelişimsel olarak geride kalmaktadır. Erken prematüre bebeklere benzer şekilde, bu çocuklar uzun süre izlenmelidir; aile desteği, rehabilitasyon ve özel eğitim ihtiyaçları karşılanmalıdır.