Introduction and Objective. Autoimmune encephalitis (AE) is an inflammatory disorder in which the immune system attacks brain tissue, causing central nervous system (CNS) dysfunction. In children, it often manifests as seizures, behavioural changes, memory impairment and involuntary movements. The aim of the review is...
Anna Artemuk, Katarzyna Lachowska, K. Kapłon et al.· Journal of Pre-Clinical and...· 0 citations
Background: PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the PURA gene, characterized by neonatal hypotonia, epilepsy, and developmental delay. Diagnostic delay is common when acquired neonatal insults co-exist and mask the underlying genetic etiology.
Methods: We de...
B. Wójtowicz, Szymon Skrzypek, Patrycja Okoń et al.· International Journal of Inn...· 0 citations
Clinicians should maintain a low threshold for fundoscopy and lumbar puncture in any child with suggestive symptoms, irrespective of demographic profile, because timely treatment can prevent permanent visual loss even when the child does not report visual symptoms.
B. Wójtowicz, Szymon Skrzypek, Patrycja Okoń et al.· International Journal of Inn...· 0 citations
Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) can overlap clinically and radiologically with pediatric-onset multiple sclerosis (MS). Transient cerebrospinal fluid (CSF) oligoclonal bands (OCBs), which may substitute for dissemination in time under the 2017 McDonald criteria, can c...
B. Wójtowicz, Oliwia Żmuda, Szymon Skrzypek et al.· International Journal of Inn...· 0 citations
A testable integrative model in which microvascular injury, blood-brain barrier disruption and neuroinflammation may contribute to persistent cognitive symptoms in PCS is outlined, as current data are largely cross-sectional and derive partly from in vitro work.
Szymon Skrzypek, Natalia Skórka, B. Wójtowicz et al.· 0 citations
This review argues for a shift from antibody-driven testing ("test when encephalitis is suspected") to syndrome-driven testing ("epilepsy-plus" phenotypes triggering a reflex panel), proposing a risk-stratified, treat-to-remission framework.
Szymon Skrzypek, Oliwia Żmuda, Natalia Skórka et al.· International Journal of Inn...· 0 citations
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