Current Overview of CDKL-5 Deficiency Disorder Treatment.

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine-threonine kinase involved in neural maturation and synaptogenesis [...

Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.

Background: Aicardi-Goutières syndrome (AGS) is a genetically determined disorder with a variable phenotype. Since the original description of AGS, advances in gene sequencing techniques have resulted in a significant broadening of the phenotypic spectrum associated with AGS genes, and new clinical pictures have emerged beyond the classic presentation. The aim of this review is to provide a comprehensive analysis of the clinical spectrum of AGS and report currently available treatments and new immunosuppressive strategies.

Imaging Findings in Neonatal and Pediatric Posterior Reversible Encephalopathy Syndrome (PRES) Differ From Adults.

Background: Posterior reversible encephalopathy syndrome (PRES) is classically a reversible clinical radiographic syndrome associated with predominantly posterior leukoencephalopathy on neuroimaging. Magnetic resonance imaging (MRI) in adults demonstrates almost universally reversible parietal-occipital disease. We aimed to demonstrate in a cohort of children that "atypical" distribution is expected, acutely and on follow-up.

Clinical, electrophysiological, and imaging findings in childhood brachial plexus injury.

Aim: To assess the prognostic capabilities of various diagnostic modalities for childhood brachial plexus injuries (BPIs) and brachial plexus birth injury (BPBI) and postneonatal BPI.

Method: In this single-center retrospective cross-sectional study, we examined children with BPIs diagnosed or confirmed by electrodiagnostic studies between 2013 and 2020, and compared the prognostic value of various components of the electrophysiologic findings, magnetic resonance imaging (MRI) data, and the Active Movement Scale (AMS). We developed scoring systems for electrodiagnostic studies and MRI findings, including various components of nerve conduction studies and electromyography (EMG) for electrodiagnostic studies.

Hereditary hemorrhagic telangiectasia presenting as a recurrent epistaxis in an adolescent: A case report.

Background: Epistaxis can be an isolated finding or a manifestation of a systemic disease. Some of the potential etiologies are usage of anticoagulants, bleeding disorders, vascular aneurysms, nasal neoplasm, hypertension and nasal steroids. Hereditary hemorrhagic telangiectasia (HHT) as a cause of recurrent epistaxis is uncommon.