Multicentric Pediatric Stroke Code: Insight to the first years after implementation.

Background: The development of unicentric pediatric acute stroke protocols has improved stroke diagnosis and treatment. The impact of the implementation of a multicentric Pediatric Stroke Code (PSC) remains unknown.

Aim: to describe the characteristics of the PSC activations and identify clinical features associated with stroke compared to stroke mimics in children in whom a multicentric PSC had been activated and compare them to reported monocentric PSC results.

The "Hypointense Focal Brain" on susceptibility-weighted imaging as a sign of venous congestion in cranial dural arteriovenous fistulas.

Background: Cranial dural arteriovenous fistulas (dAVFs) are complex neurovascular malformations accounting for approximately 10%-15% of all intracranial arteriovenous malformations. The objective is to investigate the utility of susceptibility-weighted imaging (SWI) in identifying "hypointense focal brain" as an additional helpful sign of venous congestion in cranial dAVFs.

Materials And Methods: A retrospective review of patients diagnosed with cranial dAVFs between January 2015 and June 2023 was conducted, and SWI was used to identify the "hypointense focal brain" sign within the venous drainage region of the dAVF.

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain morphology, including cerebellar atrophy. Whole-exome sequencing (WES) uncovered two novel de novo variants, a hemizygous variant in CASK (Calcium/Calmodulin Dependent Serine Protein Kinase) and a heterozygous variant in EEF2 (Eukaryotic Translation Elongation Factor 2). CASK gene encodes the peripheral plasma membrane protein CASK that is a scaffold protein located at the synapses in the brain.

Failure of deactivation in bipolar disorder during performance of an fMRI adapted version of the Stroop task.

Introduction: Few studies have examined the functional brain correlates of the performance of the Stroop task in bipolar disorder (BD). It is also not known whether it is associated with failure of de-activation in the default mode network, as has been found in studies using other tasks.

Methods: Twenty-four BD patients and 48 age, sex and educationally estimated intellectual quotient (IQ) matched healthy subjects (HS) underwent a functional MRI during performance of the counting Stroop task.

First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.

We report the clinical and genetic features of a Caucasian girl who presented a severe neurodevelopmental disorder with drug-resistant epilepsy, hypotonia, severe gastro-esophageal reflux and brain magnetic resonance imaging anomalies. WES uncovered a novel variant in homozygosis (g.197092814_197092824delinsC) in HECW2 gene that encodes the E3 ubiquitin-protein ligase HECW2.

Distal phalangeal erythema in an infant with biallelic mutations: Expanding the phenotype of primary Coenzyme Q deficiency.

We report a detailed clinical examination in a patient with primary coenzyme Q deficiency caused by biallelic mutations in the gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo reticularis and particularly, chronic distal phalangeal erythema. Laboratory testing showed elevated plasma lactate and 3-methyl-glutaconic and tricarboxylic aciduria. Supplementation with high dose of coenzyme Q was not effective to control disease progression and the patient died at the age of 3 years old because of a progressive multisystem disorder.

Activation and deactivation patterns in schizophrenia during performance of an fMRI adapted version of the stroop task.

The Stroop task, which examines an aspect of executive function/cognitive control, the ability to inhibit prepotent responses, has been relatively little examined in schizophrenia, and the findings have been inconsistent. Whether performance of this task is associated with failure of de-activation in the disorder is also uncertain. We examined 42 schizophrenic patients and 61 healthy controls during performance of an fMRI-adapted version of the Stroop task, the counting Stroop task.

Effects of perinatal HIV-infection on the cortical thickness and subcortical gray matter volumes in young adulthood.

Brain atrophy has been observed in perinatally HIV-infected patients (PHIV) despite initiation on combined antiretroviral treatment (cART), but neuroimaging studies are limited. We aimed to evaluate cortical thickness (CT) and subcortical gray matter (GM) volumes of PHIV youths with stable immunovirological situation and with a normal daily performance.A prospective cross-sectional study was conducted.

A Systematic Review of Magnetic Resonance Imaging Studies in Perinatally HIV-Infected Individuals.

Over the past few years, neuroimaging studies have been performed in young adults with perinatally acquired HIV (PHIV) to study the impact of HIV infection on the central nervous system (CNS), but no recent review have been published. This review aims to identify brain areas where PHIV eems to have greater impact taking into account demographic, behavioral, and clinical characteristics in PHIV infected patients. For this purpose, PubMed and Medline searches were carried out which included studies from 2010 to April 2020.

Apert syndrome: Cranial procedures and brain malformations in a series of patients.

Background: Apert syndrome is one of the most severe craniofacial disorders. This study aims to describe the craniofacial surgeries and central nervous system malformations of a cohort of children with Apert syndrome treated in the past 20 years and to compare these data with previously published data.

Methods: Retrospective analysis of a series of patients with Apert syndrome treated between 1999 and 2019 in our hospital.

Prevalence and Clinical Manifestations of Congenital Cytomegalovirus Infection in a Screening Program in Madrid (PICCSA Study).

Background: Cytomegalovirus (CMV) is the leading cause of congenital infection worldwide. Up to 15%-20% of infected newborns will develop long-term sequelae such as hearing loss and neurologic abnormalities. The aim of this study was to investigate the prevalence of congenital CMV infection (cCMV) and associated clinical abnormalities in Spain.

MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.

We report the case of a Caucasian Spanish origin female who showed severe psychomotor developmental delay, hypotonia, strabismus, epilepsy, short stature, and poor verbal language development. Brain magnetic resonance imaging scans showed thickened corpus callosum, cortical malformations, and dilated and abnormal configuration of the lateral ventricles without hydrocephalus. Whole-exome sequence uncovered a de novo variant in the microtubule associated serine/threonine kinase 1 gene (MAST1; NM_014975.

A novel mutation in the gene associated with a new clinical finding: large brainstem.

We report the case of a Caucasian Spanish boy, who showed profound neonatal hypotonia, feeding difficulties, apnea, severe developmental delay, epilepsy, bilateral convergent strabismus, poor verbal language development and a large brainstem. Whole-exome sequence uncovered a novel mutation in the purine-rich element binding protein A gene (; NM_005859.4:c.

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome.

We report the clinical, biochemical and genetic findings from a Spanish girl of Caucasian origin who presented with macrocephaly, dysmorphic facial features, developmental delay, hypotonia, combined oxidative phosphorylation (OxPhos) deficiency, epilepsy and anti-phospholipid antibodies (aPL). Whole-exome sequencing (WES) uncovered a heterozygous variant in the MTOR gene (NM_004958.3: c.

Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.

Introduction: Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to seizures. We report a new case of PDE who developed hydrocephalus, along with an exhaustive review of the literature.

Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature.

Introduction: In 1996, Hinchey and colleagues coined the term "Posterior reversible encephalopathy syndrome" (PRES) to describe a condition seen in patients with acute neurological symptoms and reversible subcortical vasogenic edema predominantly involving parieto-occipital areas demonstrated in brain MRI. The occurrence of this phenomenon after surgical resection of CNS tumors is typically linked to pediatric cases.

Material And Methods: Two new cases of PRES after posterior fossa surgery are reported.

First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.

We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of metabolism. Whole-exome sequencing uncovered a new homozygous mutation in the serine active site containing 1 (SERAC1) gene, which is essential for both mitochondrial function and intracellular cholesterol trafficking. Functional studies in patient fibroblasts showed that p.