ABSTRACT
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials.
ABSTRACT
Parvovirus B19 is the cause of a variety of exanthematous diseases during childhood and adolescence, such as erythema infectiosum and papular purpuric gloves and socks syndrome. This is an unusual, benign and acute acrodermatitis. Aphtous stomatitis, fever and other systemic symptoms can be associated with the eruption of the purpuric rash. Uncommon patterns such as asymmetrical distribution or erythematous involvement llave recently been described as additional features of PVB19-associated purpuric petechial eruption. This is a case report of a 12-year-old female with an atypical involvement of a papular-purpuric syndrome caused by human parvovirus B19.
Subject(s)
Erythema Infectiosum , Foot Dermatoses , Parvovirus B19, Human , Purpura , Adolescent , Child , Erythema Infectiosum/complications , Erythema Infectiosum/diagnosis , Female , Foot Dermatoses/complications , Humans , Purpura/etiology , SyndromeABSTRACT
Resumen El parvovirus B19 es causante de una variedad de enfermedades exantemáticas durante la infancia y adolescencia, como el eritema infeccioso y el síndrome papular purpúrico en guante y calcetín. Este último es una acrodermatitis aguda, inusual y benigna, que puede asociarse a aftas orales, fiebre y otros síntomas constitucionales. Existen casos atípicos como la púrpura febril en otras localizaciones, sin cumplir la distribución característica en guante y calcetín de forma simétrica o con un mayor componente de eritrodermia. Presentamos el caso de una adolescente de 12 años con un síndrome papular purpúrico de distribución atípica por parvovirus B19.
Abstract Parvovirus B19 is the cause of a variety of exanthematous diseases during childhood and adolescence, such as erythema infectiosum and papular purpuric gloves and socks syndrome. This is an unusual, benign and acute acrodermatitis. Aphtous stomatitis, fever and other systemic symptoms can be associated with the eruption of the purpuric rash. Uncommon patterns such as asymmetrical distribution or erythematous involvement llave recently been described as additional features of PVB19-associated purpuric petechial eruption. This is a case report of a 12-year-old female with an atypical involvement of a papular-purpuric syndrome caused by human parvovirus B19.
