Focal areas of signal intensity in neurofibromatosis type 1: Correlation between MRI findings and cognitive function.

Background: Focal areas of signal intensity (FASI) are T2-weighted hyperintensities detected on brain MRI in 43 %-93 % of children with neurofibromatosis type 1 (NF1). Their association with cognitive impairment, a common feature of NF1, remains controversial.

Objective: To investigate potential correlations between the presence, number, and location of FASI and cognitive performance in children with NF1.

Congenital toxoplasmosis: an observational retrospective study in the Eastern Sicily.

Introduction: () primary infection during pregnancy can lead to severe consequences in the fetus and newborn, including miscarriage, congenital disease, or neuro-ophthalmological complications.

Objectives: This study aimed to evaluate the incidence of congenital toxoplasmosis (CT) in a cohort of newborns and assess their neurological, ophthalmological, and auditory sequelae. Additionally, we examined correlations between infection rates, gestational age at maternal seroconversion, prenatal treatment, and postnatal outcomes.

Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations.

Tuberous Sclerosis Complex (TSC) is an autosomal dominant disorder characterized by widespread hamartomas and prominent neurological involvement. It results from pathogenic variants in the TSC1 or TSC2 genes, leading to hyperactivation of the mTOR pathway and consequent dysregulation of cell growth. These tumor suppressor genes encode hamartin and tuberin, proteins critical for regulating cell proliferation, neuronal excitability and synaptogenesis.

Therapeutic Opportunities for Food Supplements in Neurodegenerative Diseases.

Neurodegenerative diseases (NDs) constitute a group of debilitating conditions characterized by the progressive loss of the structure and function of neurons in the central nervous system [...

Sleep Disorders in Pediatric Patients Affected by Neurofibromatosis Type 1: Reports of a Questionnaire and an Apple Watch Sleep Assessment.

Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, and social functioning, leading to deficits in attention, alertness, and executive function, alongside increased irritability, anxiety, and depression. For pediatric patients, such disturbances pose additional concerns, potentially disrupting developmental processes and quality of life for both children and their families.

From abnormal fetal movements to neonatal seizures: A literature review.

Fetal seizures (FS) are underestimated and underdiagnosed events with a poor prognosis that could precede neonatal seizures. FS diagnosis could be clinical or by means of ultrasound. FS causes are heterogenic.

Clinical, Genetic, EEG, Neuroimaging Insights and Conservative Treatment in Pediatric Focal Epilepsy: A Retrospective Observational Study.

: Focal epilepsy is the most frequent type of epilepsy in childhood, particularly after the first year of life. This study aims to analyze the clinical aspects, electrophysiological and neuroimaging findings, and genetic predispositions in pediatric focal epilepsy. Specifically, we investigate the association between these parameters and evaluate their impact on therapeutic decisions.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Phenylketonuria (PKU) poses significant challenges for maternal and neonatal outcomes, requiring strict adherence to dietary protocols to maintain optimal maternal phenylalanine (Phe) levels during pregnancy. This study retrospectively analyzed outcomes of pregnancies in PKU-affected women and conducted a systematic review on the timing of dietary management and its impact on outcomes. This retrospective study included data from nine PKU-affected women and 14 pregnancies followed at the Regional Reference Center for Metabolic Diseases in Catania.

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

: Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired amino acid metabolism. Early diagnosis through newborn screening (NBS) enables prompt treatment, preventing neurological complications. This study aims to describe the genetic and phenotypic spectrum of PKU and mild hyperphenylalaninemia (m-HPA) in patients diagnosed at the Department of Inborn Errors of Metabolism and Newborn Screening, Hospital G.

Determinants of Rotavirus Vaccine Acceptance in an Area of Southern Italy with Low Vaccination Coverage: A Case-Control Study by the Health Belief Model Questionnaire.

Background/objectives: Rotavirus (RV) is the primary cause of gastroenteritis in children worldwide, contributing significantly to morbidity and mortality, particularly among children under five years of age. The introduction of Rotavirus vaccines (RVV) has markedly reduced RV-related childhood deaths, especially in Europe, where substantial reductions in hospitalizations and disease prevalence have been observed. Despite these advances, RVV uptake in Italy remains below the desired targets, with notable regional disparities.

The Impact of Vitamin D Supplementation Duration on Early Childhood Developmental Milestones: A Retrospective Study.

Background: Vitamin D plays a pivotal role in early childhood development, influencing skeletal strength, neuromuscular coordination, and neurodevelopment. This study aimed to evaluate the impact of different durations of Vitamin D supplementation on achieving developmental milestones.

Methods: A retrospective study was conducted on 209 children, divided into two cohorts based on Vitamin D supplementation duration: six months ( = 102) and twelve months ( = 107).

Magnetic Resonance Imaging of Central Nervous System Manifestations of Type 1 Neurofibromatosis: Pictorial Review and Retrospective Study of Their Frequency in a Cohort of Patients.

: type 1 neurofibromatosis (NF1) is the most common neurocutaneous disorder, and it is an inherited condition that causes a tumour predisposition. Central nervous system (CNS) manifestations are a significant cause of morbidity and mortality in NF1. We provide a pictorial review of neuroradiological features of NF1, with emphasis on magnetic resonance imaging (MRI), and we assess the frequency of those features on a cohort of NF1 patients.

Case report: A gain-of-function of hamartin may lead to a distinct "inverse -hamartin" phenotype characterized by reduced cell growth.

Mutations of and genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a previously unreported, distinct clinical phenotype consisting of primary microcephaly (head circumference = 40 cm, -5.6 standard deviations), brain anomalies including hypoplasia of the corpus callosum (with a residual draft of the genu), simplified parieto-temporal gyral pattern, colpocephaly with ectasia of the temporal ventricular horns, intellectual disability, and a general pattern of reduced growth (with weight and height < 3rd centiles).

Graph theory in paediatric epilepsy: A systematic review.

Graph theoretical studies have been designed to investigate network topologies during life. Network science and graph theory methods may contribute to a better understanding of brain function, both normal and abnormal, throughout developmental stages. The degree to which childhood epilepsies exert a significant effect on brain network organisation and cognition remains unclear.

Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.

Neonatal seizures (NS) occur in the first 28 days of life; they represent an important emergency that requires a rapid diagnostic work-up to start a prompt therapy. The most common causes of NS include: intraventricular haemorrhage, hypoxic-ischemic encephalopathy, hypoglycemia, electrolyte imbalance, neonatal stroke or central nervous system infection. Nevertheless, an Inborn Error of Metabolism (IEM) should be suspected in case of NS especially if these are resistant to common antiseizure drugs (ASDs) and with metabolic decompensation.

Neurocutaneous syndromes in art and antiquities.

Neurocutaneous syndromes are a group of genetic disorders affecting the skin, the central and peripheral nervous system, and the eye with congenital abnormalities and/or tumors. Manifestations may also involve the heart, vessels, lungs, kidneys, endocrine glands and bones. When people with these disorders are portrayed in works of art, physicians have speculated on possible diagnoses.

Ketogenic diet for infants with epilepsy: A literature review.

The ketogenic diet (KD) is an established, nonpharmacological treatment for drug-resistant epilepsy (DRE). Actually, KD and its variants have been shown to be elective and resolute for patients with glucose transporter type 1 (GLUT1) deficiency. The aim of this review was to study the use of KD and its variants in infancy, including the neonatal age, and demonstrate the safety and efficacy of this treatment in patients with the age of 0-23 months affected by DRE already subjected to pharmacological approach attempts.

Neurocutaneous melanocytosis (melanosis).

Neurocutaneous melanosis (NCM; MIM # 249400; ORPHA: 2481], first reported by the Bohemian pathologist Rokitansky in 1861, and now more precisely defined as neurocutaneous melanocytosis, is a rare, congenital syndrome characterised by the association of (1) congenital melanocytic nevi (CMN) of the skin with overlying hypertrichosis, presenting as (a) large (LCMN) or giant and/or multiple (MCMN) melanocytic lesions (or both; sometimes associated with smaller "satellite" nevi) or (b) as proliferative melanocytic nodules; and (2) melanocytosis (with infiltration) of the brain parenchyma and/or leptomeninges. CMN of the skin and leptomeningeal/nervous system infiltration are usually benign, more rarely may progress to melanoma or non-malignant melanosis of the brain. Approximately 12% of individuals with LCMN will develop NCM: wide extension and/or dorsal axial distribution of LCMN increases the risk of NCM.

Introduction to phacomatoses (neurocutaneous disorders) in childhood.

The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms phakoma/phakomata (from the old Greek word "ϕαχοσ" = lentil, spot, lens-shaped) to define similar retinal lesions recorded in tuberous sclerosis (1920) and in neurofibromatosis (1923). He later applied this concept: (a) to similar lesions in other organs (e.g.

Primary Microcephaly with Novel Variant of Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.

This study is a clinical report on twin females affected by primary microcephaly who displayed at molecular analysis of heterozygous novel variant. The twins at the age of 10 years developed, in coincidental time, a diagnosis of autoimmune juvenile thyroiditis. The main clinical features presented by the twins consisted of primary microcephaly with occipitofrontal circumference measuring -2 or -3 standard deviation, facial dysmorphism, typical nonsyndromic microcephaly, and mild intellectual disability.

Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.

Background: Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, basal ganglia and chornea.