A patient with Muenke syndrome manifesting migrating neonatal seizures

2017 ◽  
Vol 39 (10) ◽  
pp. 873-876 ◽  
Author(s):  
Yukimune Okubo ◽  
Taro Kitamura ◽  
Mai Anzai ◽  
Wakaba Endo ◽  
Takehiko Inui ◽  
...  
Keyword(s):  
Neonatal Seizures ◽  
Muenke Syndrome

Muenke syndrome: long-term outcome of a syndrome-specific treatment protocol

2019 ◽  
Vol 24 (4) ◽  
pp. 415-422 ◽  
Author(s):  
Bianca K. den Ottelander ◽  
Robbin de Goederen ◽  
Marie-Lise C. van Veelen ◽  
Stephanie D. C. van de Beeten ◽  
Maarten H. Lequin ◽  
...  
Keyword(s):  
Treatment Protocol ◽  
First Year ◽  
Ventricular Size ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Skull Growth ◽  
Muenke Syndrome ◽  
First Year Of Life

OBJECTIVEThe authors evaluated the long-term outcome of their treatment protocol for Muenke syndrome, which includes a single craniofacial procedure.METHODSThis was a prospective observational cohort study of Muenke syndrome patients who underwent surgery for craniosynostosis within the first year of life. Symptoms and determinants of intracranial hypertension were evaluated by longitudinal monitoring of the presence of papilledema (fundoscopy), obstructive sleep apnea (OSA; with polysomnography), cerebellar tonsillar herniation (MRI studies), ventricular size (MRI and CT studies), and skull growth (occipital frontal head circumference [OFC]). Other evaluated factors included hearing, speech, and ophthalmological outcomes.RESULTSThe study included 38 patients; 36 patients underwent fronto-supraorbital advancement. The median age at last follow-up was 13.2 years (range 1.3–24.4 years). Three patients had papilledema, which was related to ophthalmological disorders in 2 patients. Three patients had mild OSA. Three patients had a Chiari I malformation, and tonsillar descent < 5 mm was present in 6 patients. Tonsillar position was unrelated to papilledema, ventricular size, or restricted skull growth. Ten patients had ventriculomegaly, and the OFC growth curve deflected in 3 patients. Twenty-two patients had hearing loss. Refraction anomalies were diagnosed in 14/15 patients measured at ≥ 8 years of age.CONCLUSIONSPatients with Muenke syndrome treated with a single fronto-supraorbital advancement in their first year of life rarely develop signs of intracranial hypertension, in accordance with the very low prevalence of its causative factors (OSA, hydrocephalus, and restricted skull growth). This illustrates that there is no need for a routine second craniofacial procedure. Patient follow-up should focus on visual assessment and speech and hearing outcomes.

A Randomized Controlled Trial of Levetiracetam Compared with Phenobarbital in the Treatment of Neonatal Seizures

2019 ◽  
Author(s):  
Cynthia Sharpe ◽  
Gail E. Reiner ◽  
Suzanne L. Davis ◽  
Mark Nespeca ◽  
Jeffrey J. Gold ◽  
...  
Keyword(s):  
Randomized Controlled Trial ◽  
Controlled Trial ◽  
Neonatal Seizures ◽  
Randomized Controlled

Neonatal seizures

2020 ◽  
Vol 543 (50-51) ◽  
pp. 45-50
Author(s):  
Vinko Vrdoljak ◽  
Edi Paleka-Bosak ◽  
Rebeka Ribičić ◽  
Snježana Gverić-Ahmetašević
Keyword(s):  
Neonatal Seizures

scholarly journals Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures

2011 ◽  
Vol 32 (10) ◽  
pp. E2283-E2293 ◽  
Author(s):  
Snezana Maljevic ◽  
Georgios Naros ◽  
Özlem Yalçin ◽  
Dragica Blazevic ◽  
Heidi Loeffler ◽  
...  
Keyword(s):  
Neonatal Seizures

scholarly journals Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures

2021 ◽  
Author(s):  
Adam L. Numis ◽  
Gilberto da Gente ◽  
Elliott H. Sherr ◽  
Hannah C. Glass
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
List Type ◽  
Sequencing Analysis ◽  
Neonatal Seizures ◽  
Pathogenic Variants ◽  
Targeted Analysis ◽  
Whole Exome ◽  
Epilepsy Gene

Abstract Background The contribution of pathogenic gene variants with development of epilepsy after acute symptomatic neonatal seizures is not known. Methods Case–control study of 20 trios in children with a history of acute symptomatic neonatal seizures: 10 with and 10 without post-neonatal epilepsy. We performed whole-exome sequencing (WES) and identified pathogenic de novo, transmitted, and non-transmitted variants from established and candidate epilepsy association genes and correlated prevalence of these variants with epilepsy outcomes. We performed a sensitivity analysis with genes associated with coronary artery disease (CAD). We analyzed variants throughout the exome to evaluate for differential enrichment of functional properties using exploratory KEGG searches. Results Querying 200 established and candidate epilepsy genes, pathogenic variants were identified in 5 children with post-neonatal epilepsy yet in only 1 child without subsequent epilepsy. There was no difference in the number of trios with non-transmitted pathogenic variants in epilepsy or CAD genes. An exploratory KEGG analysis demonstrated a relative enrichment in cell death pathways in children without subsequent epilepsy. Conclusions In this pilot study, children with epilepsy after acute symptomatic neonatal seizures had a higher prevalence of coding variants with a targeted epilepsy gene sequencing analysis compared to those patients without subsequent epilepsy. Impact We performed whole-exome sequencing (WES) in 20 trios, including 10 children with epilepsy and 10 without epilepsy, both after acute symptomatic neonatal seizures. Children with post-neonatal epilepsy had a higher burden of pathogenic variants in epilepsy-associated genes compared to those without post-neonatal epilepsy. Future studies evaluating this association may lead to a better understanding of the risk of epilepsy after acute symptomatic neonatal seizures and elucidate molecular pathways that are dysregulated after brain injury and implicated in epileptogenesis.

Prevalence and predictors of adverse outcomes in neonatal seizures

2021 ◽  
pp. 1-7
Author(s):  
K. Famra ◽  
P. Barta ◽  
A. Aggarwal ◽  
B.D. Banerjee
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Very Low Birth Weight ◽  
Birth Asphyxia ◽  
Adverse Outcomes ◽  
Neonatal Seizures ◽  
Clinical Practices ◽  
Inborn Errors ◽  
Mortality And Morbidity ◽  
Low Birth Weight Babies

OBJECTIVES: Neonatal seizures are significant cause of neonatal mortality and morbidity. Current study was planned to study prevalence of adverse outcomes in neonatal seizures and identify its predictors. METHODS: This observational descriptive study was carried out on 220 neonates with seizures. Neonates who succumbed to illness/ death before investigations, or whose maternal records were incomplete were excluded. Blood sugar, serum calcium, serum electrolytes, and USG skull were done in all patients. CT scan, MRI and inborn errors of metabolism profile were done as and when indicated. Adverse outcomes were defined as death, phenobarbitone non responders, or abnormal examination at discharge. Antenatal, perinatal and neonatal predictors of adverse outcomes in neonatal seizures were evaluated. RESULTS: Out of 220 neonates with seizures 76(34.5%) had adverse outcomes. Very low birth weight babies (≤1500 gm) [OR 1.27(CI 0.57–2.84)], microcephaly [OR 5.93 (CI 0.55–64.41)], Apgar score≤3 at 5 minutes [OR 11.28(CI 14.18–30.45)], seizure onset within 24 hours [OR 5.99(CI 12.43–14.78)], meningitis [OR 2.63(CI 0.08–6.39)], septicemia [OR1.22(CI 0.45–3.31)] and abnormal cranial USG [OR 7.95(CI 12.61–24.22)] were significant predictors of adverse outcomes in neonates with seizures. CONCLUSION: Prematurity, very low birth weight, birth asphyxia, meningitis, septicemia and abnormal USG could predict adverse outcomes in neonatal seizures. Improved antenatal and neonatal clinical practices may help reduce adverse outcomes in these patients.

Approach to Neonatal Seizures

2011 ◽  
Vol 51 (5) ◽  
pp. 415-425 ◽  
Author(s):  
Lalitha Sivaswamy
Keyword(s):  
Neonatal Seizures
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