Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association?

We report an unusual association between idiopathic occipital epilepsy and childhood absence epilepsy in 2 pediatric patients. At first clinical and electroencephalographic evaluation, the patients presented the peculiar signs of idiopathic occipital epilepsy Gastaut type: focal sensory visual seizures, migrainelike symptoms (only in one patient) and unilateral spike–wave discharges over occipital regions. Both children were treated with valproic acid and their seizures were rapidly controlled. After a seizure-free period, the patients presented typical absence with ictal electroencephalographies showing 3 cycles/s generalized and symmetrical spike–wave complexes. We discuss the possible association between these two epileptic syndromes and its common pathophysiological mechanisms

Cognitive and linguistic abnormalities in benign childhood epilepsy with centrotemporal spikes

Aim: To assess the cognitive function and language ability in children with benign partial epilepsy with centrotemporal spikes. Methods: Twenty-five patients with benign partial epilepsy with centrotemporal spikes were included. They were divided into two subgroups. Group I: 10 patients with rolandic focus who were not treated. Group II: 15 patients with rolandic focus receiving treatment. A third Group of 12 healthy subjects have been studied. All children underwent standardized neuropsychological testing: electroencephalogram recording, Wechsler Intelligence Scale for Children-revised, Peabody Picture Vocabulary Test-III (PPVT-III) and Boston Naming Test (BNT), both during active disease (T1) and 2 years after recovery from epilepsy (T2). Results: At T1 evaluation, no significant differences in group I and II patients about general intelligence, when compared with controls, were found. Group I and II patients were impaired with respect to controls in the receptive and expressive vocabulary evaluated with PCVT-III and BNT, respectively. At T2 evaluation, group I and II patients showed a normalization of the language abnormalities. Conclusion: Deficits of speech-related abilities can be detected in children with this type of epilepsy: these dysfunctions seem to be independent of the effects of antiepileptic treatment and are reversible after remission of epilepsy

Isolation and Characterization of Two Novel, Cytoplasmically Polyadenylated, Oocyte-Specific, Mouse Maternal RNAs

AbstractDuring early development in mouse andXenopus,translational activation of stored maternal mRNAs by cytoplasmic polyadenylation requires both the nuclear polyadenylation signal AAUAAA and U-richcis-acting adenylation control elements (ACEs), also termed cytoplasmic polyadenylation elements, located in the 3′ UTR. Using an ACE-based PCR strategy (Salléset al.,1992) we have isolated two novel cDNAs from mouse oocytes: OM2a and OM2b (for Oocyte Maturation). Each message contains an ACE consensus sequence upstream of AAUAAA, is specifically transcribed in the growing oocyte, and is cytoplasmically polyadenylated upon oocyte maturation. Comparison of the mouse and rat homologs reveals considerable nucleotide sequence homology and conservation of overall gene organization. However, the predicted open reading frames are far less conserved, suggesting that these genes may not be functioning as proteins. The tissue specificity and tight temporal regulation of the RNAs suggest a role for these genes during early development

Mother to child transmission of Hepatitis C Virus in a province of Northern Italy

NTRODUCTION: Study reports of mother to child transmission of hepatitis C virus (HCV) have shown transmission rates ranging from 3 to 37%, according to maternal viremia and HIV-1 coinfection. The present study evaluated the prevalence of the HCV infection in the general population and the incidence of vertical transmission, from women who delivered in the Obstetric Clinic of the Hospital of Parma from January 1st 1996 to 31st 2001 December. METHODS: Mothers and children were tested for the presence of HCV-RNA within one week after delivery. Children were considered to be infected when they were found positive at least twice for viral RNA or antibodies were still detectable at the end of the follow-up period (18 months) in blood. RESULTS: Out of 13,025 women, 110 (0.8%) were found positive for anti-HCV antibodies; 72 of them (65.4%) were HCV-RNA positive. All 110 children were positive for anti-HCV antibodies in the first blood sample (time 0); 8 of them were HCV-RNA positive. Three children were still viremic at the end of the follow-up whereas 5 showed a clearance. No significant differences were found between viremic and nonviremic children with respect to gestational week, maternal alanine aminotransferase (ALT) levels and newborns weight at birth. CONCLUSION: This investigation shows that vertical transmission may occur in a general obstetric population despite a low prevalence of HCV-positive subjects

Absent ductus venosus: different perinatal outcome related to anatomy

Congenital absence of the ductus venosus (ADV) is a rare condition which can present with several anatomic settings and associated to congenital anomalies of other systems. Different clinical patterns in the fetus and the newborn can emerge therefore. We report two cases of ADV with opposite perinatal outcomes. Case #1. A 28 y.o. black woman came at 22 weeks’ gestation (GA) for mid-pregnancy evaluation. She showed polyhydramnion (amniotic fluid index (AFI)= 261mm) associated to normal cardiac anatomy and normal karyotype (46,XX). The enlarged umbilical vein (UV) showed a pulsatile pattern at echoDoppler with direct connection to the RA. A fistula between the UV and the iliac artery was evidenced by colorDoppler as well. Despite normal ventricular contractility (EF) and diastolic function (E/A ratio) at echocardiographic monitoring, fetal cardiac enlargement progressively occurred with mild pericardial effusion. At 28 GA placental detachment occurred and a female infant (BW 915g, <10°p) was born with severe perinatal asphyxia. The infant died at 5 hours of life from severe acidosis refractory to intensive care and resuscitation efforts. Postmortem evaluation confirmed the anatomic pattern and absence of the portal vein (PV) was demonstrated as well. Case #2. A 35 y.o. white woman was admitted to our tertiary care at 33 GA because of monolateral renal agenesis and unique umbilical artery. Despite ADV, mesocardia and mild cardiac enlargement the fetus was stable (normal diastole and contractility). The UV echoDoppler showed a normal flat pattern at the beginning of its abdominal course but it progressively became pulsatile as the UV run cephalad to the heart. The infant was born at 38 GA from a planned cesarean delivery (BW 3080g). The perinatal adaptation, karyotype and phenotype were normal. Echocardiography in the newborn showed normal diastole and contractility (E/A ratio, LVEF, LVDd). The associated congenital anomalies were confirmed. DISCUSSION. ADV is a rare anomaly in which perinatal prognosis is difficult to predict and clinical presentation can vary greatly due to the different patterns, i.e. fetal cardiac failure, associated congenital anomalies, polyhydramnion. We reported 2 cases of ADV with opposite clinical course. As it often occurs, case #2 was detected occasionally, late in pregnancy, with a good hemodynamic status despite some malformative features. The normal perinatal transition shifted the cardiovascular system to a setting which did not need any DV activity in regulating venous return and the neonatal course was asymptomatic. Conversely case #1 showed fetal hemodynamics impaired since the beginning of the 3rd trimester. Maybe this could be the consequence of a huge hemodynamic overload due to the presence of both ADV and veno-arterial fistulas emphasizing the diastolic overload of a direct connection of the UV to the RA. The PV was also absent and this has been decribed as being related to a negative prognosis. It is still difficult to completely understand why some fetuses can tolerate the missing function of the DV in regulating the systemic venous return while others do not. To monitorate fetal cardiac function by echoDoppler can be helpful but it is not a standard yet. So case-by-case detailed evaluation of complete anatomy and analysis of both diastole and contractility remains the better choice. Finally the Obstetrician will be mandatory as any modification in the course of pregnancy can be life-threatening due to the thin hemodynamic balance of these fetuses

Bone mineral status and metabolism in patients with Williams-Beuren syndrome.

OBJECTIVE: To evaluate bone mineral status and metabolism in a cohort of patients with Williams-Beuren syndrome (WBS). PATIENTS: Thirty-one children (15 females, 16 males; mean age 9.6±2.74 years) and 10 young adults (6 females, 4 males; mean age 21.4±5.11 years) with WBS were cross-sectionally evaluated and compared with two age-, sex-, and body-size-matched paediatric (155 subjects, 75 females and 80 males; mean age 9.7±2.93 years) and adult (50 subjects, 30 females and 20 males; mean age 22.3±5.42 years) healthy controls. MEASUREMENTS: We evaluated ionised and total calcium, phosphate, parathyroid hormone (PTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin D, osteocalcin, bone alkaline phosphatase levels, and urinary deoxypyridinoline concentrations. We also calculated the phalangeal amplitude-dependent speed of sound (AD-SoS) and the bone transmission time (BTT) z-scores. RESULTS: WBS patients showed a significantly reduced AD-SoS z-score (p &lt;0.001) and BTT z-score (p &lt;0.001) compared with the controls. This finding persisted when we divided the sample into paediatric and adult patients. WBS patients also had significantly higher ionised (p &lt;0.001) and total calcium (p &lt;0.001) levels as well as higher PTH levels (p &lt;0.001) compared with the controls. Furthermore, WBS children and adolescents had significantly lower serum osteocalcin levels (p &lt;0.001) and urinary deoxypyridinoline concentrations (p &lt;0.001) than controls. CONCLUSIONS: WBS subjects exhibit a significant reduction in bone mineral status and impaired bone metabolism. These findings point to the need for close monitoring of WBS patients

Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

SCV was supported by a Max Planck Research Group awarded by the Max Planck Gesellschaft, a Human Frontiers Science Program Grant (RGP0058/2016), and a UKRI Future Leaders Fellowship (MR/T021985/1). MA was supported by an International Max Planck Research School (IMPRS) PhD Fellowship from the Max Planck Institute for Psycholinguistics.Background:  Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features. Case-report : A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe). Conclusion : This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in CNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.Publisher PDFPeer reviewe

Long term outcome in children affected by absence epilepsy with onset before the age of three years.

OBJECTIVE: The goal of this study was to define the long-term outcome of absence epilepsy presenting before the age of 3 years. METHODS: We retrospectively studied the medical records of 40 children from eight neuropediatric centers in Italy with respect to the personal and family histories of epilepsy or febrile seizures, time of follow-up, cognitive functions, treatment, and outcome. RESULTS: Forty patients were enrolled in this study. They all fulfilled the criteria for absence epilepsy with 3-Hz spike-wave complexes on the EEG, normal neurological examination, and no other seizures types. Seizure onset occurred between 24.1 and 36.0 months. There was a family history of epilepsy in 28%, and of febrile seizures in 13%. Thirty-three patients were treated with valproic acid (VPA), mostly used in monotherapy (26 patients) or in association with ethosuximide. At final follow-up, 33 patients were seizure free and 29 had normal EEGs. Thirty-four patients had a normal intelligence quotient (IQ), whereas 6 had a decreased IQ, mainly associated with poor control of seizures. CONCLUSION: In our series, absence seizures presenting before the age of 3 appeared to have quite a good long-term clinical prognosis; the neuropsychological outcome was comparable to that of childhood epilepsy presenting after 3 years of age

Management of infants with brief resolved unexplained events (Brue) and apparent life-threatening events (alte): A rand/ucla appropriateness approach

Unexpected events of breath, tone, and skin color change in infants are a cause of consider-able distress to the caregiver and there is still debate on their appropriate management. The aim of this study is to survey the trend in prevention, decision-making, and management of brief resolved unexplained events (BRUE)/apparent life-threatening events (ALTE) and to develop a shared proto-col among hospitals and primary care pediatricians regarding hospital admission criteria, work-up and post-discharge monitoring of patients with BRUE/ALTE. For the study purpose, a panel of 54 experts was selected to achieve consensus using the RAND/UCLA appropriateness method. Twelve scenarios were developed: one addressed to primary prevention of ALTE and BRUE, and 11 focused on hospital management of BRUE and ALTE. For each scenario, participants were asked to rank each option from ‘1’ (extremely inappropriate) to ‘9’ (extremely appropriate). Results derived from panel meeting and discussion showed several points of agreement but also disagreement with different opinion emerged and the need of focused education on some areas. However, by combining previous recommendations with expert opinion, the application of the RAND/UCLA appropriateness permit-ted us to drive pediatricians to reasoned and informed decisions in term of evaluation, treatment and follow-up of infants with BRUE/ALTE, reducing inappropriate exams and hospitalisation and highlighting priorities for educational interventions