Efficacy and safety of levetiracetam in infants and young children with refractory epilepsy

SummaryThe aim of this multicentric, retrospective, and uncontrolled study was to evaluate the efficacy and safety of levetiracetam (LEV) in 81 children younger than 4 years with refractory epilepsy. At an average follow-up period of 9 months, LEV administration was found to be effective in 30% of patients (responders showing more than a 50% decrease in seizure frequency) of whom 10 (12%) became seizure free. This efficacy was observed for focal (46%) as well as for generalized seizures (42%). In addition, in a group of 48 patients, we compared the initial efficacy (evaluated at an average of 3 months of follow-up) and the retention at a mean of 12 months of LEV, with regard to loss of efficacy (defined as the return to the baseline seizure frequency). Twenty-two patients (46%) were initial responders. After a minimum of 12 months of follow-up, 9 of 48 patients (19%) maintained the improvement, 4 (8%) of whom remained seizure free. A loss of efficacy was observed in 13 of the initial responders (59%). Maintained LEV efficacy was noted in patients with focal epilepsy and West syndrome. LEV was well tolerated. Adverse events were seen in 18 (34%) patients. The main side effects were drowsiness and nervousness. Adverse events were either tolerable or resolved in time with dosage reduction or discontinuation of the drug.We conclude that LEV is safe and effective for a wide range of epileptic seizures and epilepsy syndromes and, therefore, represents a valid therapeutic option in infants and young children affected by epilepsy

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Purpose: Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype–phenotype correlations of MWS. Methods: In a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations. Results: All anthropometric, somatic, and behavioral features reported here outline a variable but highly consistent phenotype. By presenting the most comprehensive evaluati

Neonato e bambino: parametri normali di sviluppo; riflessi primitivi; principali tappe dello sviluppo psicomotorio

Il capitolo affronta le fisiologiche tappe dello sviluppo del bambino, della nascita all'et\ue0 scolare sia sul piano motorio, sia fine che grossolano che psichico, cognitivo e relazionale . Sono inoltre trattati i riflessi arcaici neonatali e la motilit\ue0 spontanea dei primi mesi di vita

Ante partum bed rest and unexplained infantile crying

Aim. The aim of this study was to assess whether bed rest during pregnancy is a risk factor for infantile colics. Methods. In a previous paper a questionnaire was administered to 86 women (43 of whom had stayed in bed during pregnancy for a mean of 3.4±1.2 months, and 43 were controls) about the clinical history and the present state of their 11-15 year old babies. In the present paper we traced these women and assessed the presence/absence of unexplained infant crying (IUC, infantile colic), diagnosed by a physician in the first year of life of these children. Forty mothers answered the inquiry, and we compared their answers with 40 control mothers. Results. Babies born after maternal bed rest during pregnancy had a higher incidence of UIC than the control group (26/40 vs 11/40; P =0.0015). No significant correlation was found between UIC and allergies or between UIC and maternal or artificial breast feeding. Conclusion. Our retrospective study shows a possible association between bed rest and UIC: further studies, including other important variables (stress, drugs, smoking) are needed

Teaching NeuroImages: Neurovascular features of suspected antenatal-onset Sturge-Weber syndrome without skin involvement

A female infant was born at 35-week gestation by emergency C-section because of abnormal cardiotocography. No birthmarks were evident. Cord pH was 6.87; therefore, an amplitude-integrated electroencephalography monitoring was performed soon after birth, showing left-sided electrical seizures. Cranial ultrasound revealed left hemisphere atrophy, with subcortical hyperechoic areas in the frontoparietal lobe. Frontoparietal NIRS monitoring showed interhemispheric asymmetry of cerebral oxygenation and total hemoglobin concentration (figure 1) that serves as a proxy for cerebral blood volume. Brain CT and MRI (figure 2) revealed characteristic features consistent with Sturge-Weber syndrome. Based on the evidence of polymicrogyria, the insult was dated back to the second trimester of pregnancy. The ophthalmologic examination results were unremarkable. The infant was started on phenobarbital, with seizure remission

Sensorial saturation: An effective analgesic tool for heel-prick in preterm infants: A prospective randomized trial

Pain is traumatic for preterm infants and can damage their CNS. We wanted to assess whether multisensorial stimulation can be analgesic and whether this effect is only due to oral glucose or sucking. We performed a randomized prospective study, using a validated acute pain rating scale to assess pain during heel-prick combined with five different procedures: (A) control, (B) 10% oral glucose plus sucking, (C) sensorial saturation (SS), (D) oral water, and (E) 10% oral glucose. SS is a multisensorial stimulation consisting of delicate tactile, vestibular, gustative, olfactory, auditory and visual stimuli. Controls did not receive any analgesia. We studied 85 heel-pricks (5 per baby) performed for routine blood samples in 17 preterm infants (28-35 weeks of gestational age). We applied in random order in each patient the five procedures described above and scored pain. SS and sucking plus oral glucose have the greater analgesic effect with respect to no intervention (p < 0.001). The effect of SS is statistically better than that of glucose plus sucking (p < 0.01). SS promotes interaction between nurse and infant and is a simple effective form of analgesia for the NICU. Copyright \ua9 2001 S. Karger AG, Basel

Computed Tomography in Acute Severe Central Nervous System Complications in Children Treated for Cancer: Still a Useful Diagnostic Tool in the Emergency Setting

We retrospectively checked patients who underwent chemotherapy and/or hematopoietic stem cell transplantation from 2007 to 2016, in order to evaluate whether early computed tomography is useful in children treated for cancer with acute central nervous system complications. Out of a total sample of 443 patients, 52 children (11.7%) presented these complications. In the end, 31 patients were included, with a total of 33 events of central nervous system complications. The computed tomography was abnormal in 22 events (67%) and diagnostic for a specific complication in 20 events (61%), whereas it directly influenced the treatment in 16 events (48%). Computed tomography should be still considered a relevant diagnostic tool in the management of acute central nervous system complications in the emergency setting

Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).

Congenital Cataracts with Facial Dysmorphisms and Neuropathy (CCFDN) is a complex autosomal recessive disorder characterized by bilateral congenital cataracts, developmental delay, peripheral; hypo-demyelinating neuropathy, mild facial dysmorphisms, and other rare signs. Cerebral and spinal cord atrophy is the main neuroimaging finding but other less common abnormalities have been previously described. We describe progressive focal lesions of supratentorial white matter in a 10-year-old boy affected by CCFDN. Other etiologies have been excluded and these lesions can be considered a new finding of the disease. We discuss a possible demyelinating mechanism affecting both peripheral and central myelin