Intracranial empyema complicating sinusitis in childhood: Epidemiology, imaging findings and outcome.

Background: To describe clinical presentations of intracranial sinusitis complications in childhood, their pitfalls and imaging findings.

Materiel And Methods: This retrospective IRB-approved single-center study included infants diagnosed with sinusitis and empyema and/or other intracranial complications who underwent imaging between September 2008 and September 2019. Three radiologists individually reviewed clinical charts and imaging findings, including sinusitis complications and at-risk anatomical variations.

Magnetic resonance imaging diagnosis of subependymal giant cell astrocytomas in follow-up of children with tuberous sclerosis complex: should we always use contrast enhancement?

Background: Subependymal giant cell astrocytomas (SEGAs) arise in 10-26% of tuberous sclerosis complex (TSC) patients. SEGAs cause obstructive hydrocephalus and increase morbi-mortality. It is recommended that TSC patients be followed with contrast enhanced magnetic resonance imaging (CE-MRI), but repetitive use of gadolinium-based contrast-agents (GBCAs) may cause organ deposits.

Expanding the Spectrum of Neurological Manifestations in Cutis Laxa, Autosomal Recessive, Type IIIA.

Cutis laxa is a heterogeneous group of diseases, characterized by abundant and wrinkled skin and a variable degree of intellectual disability. Cutis laxa, autosomal recessive, type IIIA and autosomal dominant 3 syndromes are caused by autosomal recessive or de novo pathogenic variants in . Autosomal recessive variants are known to lead to the most severe neurological phenotype, and very few patients have been described.

Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome.

Background: The molecular anomalies causing moyamoya disease (MMD) and moyamoya syndromes (MMS) are unknown in most patients.

Objective: This study aimed to identify de novo candidate copy number variants (CNVs) in patients with moyamoya.

Methods: Rare de novo CNVs screening was performed in 13 moyamoya angiopathy trios using whole exome sequencing (WES) reads depth data and whole genome high density SNP array data.