Neuromyelitis optica is a rare autoimmune demyelinating disease of the central nervous system in childhood. Its relapsing form is usually reported in adults. We report a 3-year-old girl with relapsing, IgG seropositive neuromyelitis optica. Initially she presented with optic neuritis, followed by three relapses with deterioration of optic neuritis and developing transverse myelitis. With each relapse, the treatment was less effective. Four years after the onset of the disease, the patient was blind, had paraplegia associated with urinary and bowel incontinence and short stature.

Background and Aim: Atresia is the most common congenital anomaly of the esophagus, with an increased risk of complications after surgical correction. The aim of our study was to evaluate the risk factors associated with early and late postoperative complications in neonatal patients with esophageal atresia. Methods: The study sample comprised 109 neonatal patients aged between 0 and 27 days of life who were prenatally diagnosed with esophageal atresia or diagnosed at birth. For the purpose of this study, neonatal and perinatal factors and factors associated with the mother’s medical condition were analyzed. Complications after surgical intervention were classified as early and late. Results: Patients with early postoperative complications experienced significantly more frequent complications during delivery (p = 0.002), asphyxia (p = 0.038), and postoperative sepsis (p = 0.045) and were more likely to have received medicamentous therapy (p = 0.035). Patients with late postoperative complications had significantly more frequent complications during delivery (p = 0.025), respiratory distress (p = 0.043), and postoperative sepsis (p = 0.010), were more likely to have received preoperative mechanical ventilation (p = 0.014), and showed a significantly different frequency distribution among the different classes of the Spitz classification (p = 0.008). A risk factor for early postoperative complications in patients with atresia in the upper part was complications during delivery (OR-3.09; p = 0.007). The risk factors for late postoperative complications for patients with upper atresia were preoperative mechanical ventilation (OR: 2.77; p = 0.041), postoperative sepsis (OR: 2.60; p = 0.028), and belonging to relatively high- and high-risk groups according to the Spitz classification (OR: 3.50; p = 0.022). Conclusions: In neonates who have undergone surgical intervention for esophageal atresia, a risk factor for early postoperative complications is complications during delivery, while the risk factors for late postoperative complications are preoperative mechanical ventilation, postoperative sepsis, and belonging to relatively high- and high-risk groups according to the Spitz classification. Therefore, a multidisciplinary approach and continuous monitoring are essential to reduce morbidity and mortality, as well as to improve quality of life, in these patients.

Introduction/Objective. One of the main side-effects in patients undergoing valproic acid treatment is weight gain. Weight gain might be the reason for drug discontinuation, especially in adolescent girls, and it has to be considered also before introducing the drug. The main goal of our study is to investigate a possible influence of antiepileptic therapy with sodium valproate on weight and glucose homeostasis in pediatric patients with epilepsy. Methods. The investigation included a total of 49 healthy children with recently diagnosed epilepsy. We measured height, weight and serum 12-hour overnight fasting glucose and insulin level before initiation and after 6- and 12-month valproic acid treatment period. The BMI and HOMA indexes were calculated for each patient and correlated after the initiation of therapy and after 6 and 12 months of therapy. Results. We found that children significantly gained weight with statistical significance (p<0.01) even after 6 months of therapy with a significant glucose metabolism change and statistical difference in average serum glucose and insulin levels (p<0.05). Conclusion. Our results show that a 12-month treatment with valproic acid in children with epilepsy has a great impact on weight gain and glucose homeostasis and metabolism. We strongly recommend that all children with recently diagnosed epilepsy at the initiation of valproate therapy should be closely monitored on a 6-month basis. Consultation of nutritionist is advised especially in children with preexisting problem with body weight.

Introduction. Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. Case Outline. We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation. Generalized muscle hypotonia was observed at birth. First seizures started at age of 9 months as unilateral convulsive status epilepticus (SE), sometimes with bilateral generalization. Seizures were often triggered by fever and were resistant to antiepileptic treatment. Introduction of lamotrigine and valproate therapy led to complete seizure control at the age of 33 months. Electroencephalographic (EEG) finding was typical at the beginning. After transitory improvement between age four and five years, epileptiform EEG activity appeared again at the age of five years, without observed clinical seizures. Magnetic resonance imaging showed diffuse brain atrophy and delay in myelination. Using Multiplex ligation-dependent probe amplification (MLPA) method, we disclosed heterozygote microdeletation of the distal part of the short arm of chromosome 4 (4p16). Conclusion. We present a clinical course of epilepsy in a patient with Wolf-Hirschhorn syndrome. The diagnosis was verified by modern molecular technique. This is the first molecular characterization of a patient with WHS performed in our country.