Susac syndrome : a case report and PET imaging findings

We describe the case of a twenty year old woman with subacute encephalopathy, who subsequently developed hearing loss and ophtalmopathy. The clinical triad and typical findings on magnetic resonance imaging and cerebrospinal fluid analysis led to the diagnosis of Susac syndrome. Brain positron emission tomography showed abnormalities which are comparable with other types of central nervous system vasculitis, and distinct from those found in multiple sclerosis

Prevalence of cerebral palsy and factors associated with cerebral palsy subtype: A population-based study in Belgium.

AIM: To report on the prevalence, neuroimaging patterns, and function of children with cerebral palsy (CP) in Belgium for birth years 2007-2012, and identify distinctive risk indicators and differences in outcome between CP subtypes. METHODS: Antenatal and perinatal/neonatal factors, motor and speech function, associated impairments, and neuroimaging patterns were extracted from the Belgian Cerebral Palsy Register. Prevalence was estimated per 1000 (overall, ante/perinatal, spastic, dyskinetic CP) or 10,000 (post-neonatal, ataxic CP) live births. Multinomial logistic regression analyses were performed to ascertain the effects of antenatal/perinatal/neonatal factors and neuroimaging patterns on the likelihood of dyskinetic or ataxic CP relative to spastic CP, and test the likelihood of the occurrence of impaired motor and speech function and associated impairments in dyskinetic or ataxic CP relative to spastic CP. RESULTS: In total, 1127 children with CP were identified in Belgium. The birth prevalence of overall CP was 1.48 per 1000 live births. The likelihood of dyskinetic CP increases if the child was born to a mother aged ≥35 years, mechanically ventilated, and had predominant grey matter injury, while an increased likelihood of ataxic CP is associated with ≥2 previous deliveries. Children with dyskinetic and ataxic CP are more likely to function with impairments in motor, speech, and intellectual abilities. CONCLUSION: Distinctive risk indicators and differences in outcome between CP subtypes were identified. These factors can be incorporated into clinical practice to facilitate early, accurate, and reliable classification of CP subtype, and may lead to individually tailored neonatal care and other (early) intervention options

Acuerdo entre evaluadores en la puntuación visual de las convulsiones neonatales basadas en la votación mayoritaria en un sistema basado en la web: la base de datos Neoguard EEG

Objective To assess interrater agreement based on majority voting in visual scoring of neonatal seizures. Methods An online platform was designed based on a multicentre seizure EEG-database. Consensus decision based on ‘majority voting’ and interrater agreement was estimated using Fleiss’ Kappa. The influences of different factors on agreement were determined. Results 1919 Events extracted from 280 h EEG of 71 neonates were reviewed by 4 raters. Majority voting was applied to assign a seizure/non-seizure classification. 44% of events were classified with high, 36% with moderate, and 20% with poor agreement, resulting in a Kappa value of 0.39. 68% of events were labelled as seizures, and in 46%, all raters were convinced about electrographic seizures. The most common seizure duration was <30 s. Raters agreed best for seizures lasting 60–120 s. There was a significant difference in electrographic characteristics of seizures versus dubious events, with seizures having longer duration, higher power and amplitude. Conclusions There is a wide variability in identifying rhythmic ictal and non-ictal EEG events, and only the most robust ictal patterns are consistently agreed upon. Database composition and electrographic characteristics are important factors that influence interrater agreement. Significance The use of well-described databases and input of different experts will improve neonatal EEG interpretation and help to develop uniform seizure definitions, useful for evidence-based studies of seizure recognition and managemen

Interrater agreement in visual scoring of neonatal seizures based on majority voting on a web-based system: The Neoguard EEG database

OBJECTIVE: To assess interrater agreement based on majority voting in visual scoring of neonatal seizures. METHODS: An online platform was designed based on a multicentre seizure EEG-database. Consensus decision based on 'majority voting' and interrater agreement was estimated using Fleiss' Kappa. The influences of different factors on agreement were determined. RESULTS: 1919 Events extracted from 280h EEG of 71 neonates were reviewed by 4 raters. Majority voting was applied to assign a seizure/non-seizure classification. 44% of events were classified with high, 36% with moderate, and 20% with poor agreement, resulting in a Kappa value of 0.39. 68% of events were labelled as seizures, and in 46%, all raters were convinced about electrographic seizures. The most common seizure duration was <30s. Raters agreed best for seizures lasting 60-120s. There was a significant difference in electrographic characteristics of seizures versus dubious events, with seizures having longer duration, higher power and amplitude. CONCLUSIONS: There is a wide variability in identifying rhythmic ictal and non-ictal EEG events, and only the most robust ictal patterns are consistently agreed upon. Database composition and electrographic characteristics are important factors that influence interrater agreement. SIGNIFICANCE: The use of well-described databases and input of different experts will improve neonatal EEG interpretation and help to develop uniform seizure definitions, useful for evidence-based studies of seizure recognition and management.status: publishe

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox-Gastaut syndrome (LGS). We found six de novo mutations in six patients presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). No mutations were found in LGS or EME. Only two of four mutation carriers with neonatal seizures had Ohtahara syndrome. Epileptic spasms were present in five of six patients. One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically. Neuropathology showed a focal cortical dysplasia type 1a. There is a need for additional neuropathologic studies to explore whether STXBP1 mutations can lead to structural brain abnormalities

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

Varicella zoster virus (VZV) typically causes chickenpox upon primary infection. In rare cases, VZV can give rise to life-threatening disease in otherwise healthy people, but the immunological basis for this remains unexplained. We report 4 cases of acute severe VZV infection affecting the central nervous system or the lungs in unrelated, otherwise healthy children who are heterozygous for rare missense mutations in POLR3A (one patient), POLR3C (one patient), or both (two patients). POLR3A and POLR3C encode subunits of RNA polymerase III. Leukocytes from all 4 patients tested exhibited poor IFN induction in response to synthetic or VZV-derived DNA. Moreover, leukocytes from 3 of the patients displayed defective IFN production upon VZV infection and reduced control of VZV replication. These phenotypes were rescued by transduction with relevant WT alleles. This work demonstrates that monogenic or digenic POLR3A and POLR3C deficiencies confer increased susceptibility to severe VZV disease in otherwise healthy children, providing evidence for an essential role of a DNA sensor in human immunity