Fetal growth restriction: A growth pattern with fetal, neonatal and long-term consequences

Fetal growth restriction (FGR) or intrauterine growth restriction (IUGR) are the terms used for a fetus which has not attained its full growth potential for gestational age. FGR is a multifactorial syndrome responsible for increased fetal and neonatal morbidity and mortality as well as long term adverse outcomes involving auxological, metabolic, organic and functional domains. Clinicians distinguish early and late onset FGR, in relation to specific fetal anthropometric parameters related to the possible primary etiology and to different patterns of placental and maternal cardiovascular pathologies. Delivery of an early onset FGR or growth impaired newborn with congenital pathology should be…

Una anoressia “infiammatoria”

Crohn's disease (CD) is an inflammatory disease with a chronic relapsing course and a wide spectrum of manifestations that sometimes overlaps the symptoms of other pathologies. The paper describes the case of a girl with anorexia and a following diagnosis of CD.

POSTERIOR FOSSA TUMORS: A CASE REPORT OF ACQUIRED TORTICOLLIS IN CHILDREN

Torticollis is a pathological condition characterized by involuntary flexion of the neck to the affected side and contextually a rotation of the chin in the opposite direction. We present the case of a 7-year-old girl, admitted to the paediatric emergency department complaining of headache, laterocollis rotation, left torticollis and deviation of the head to the right, without history of trauma or systemic illness. Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) brain scans were performed, showing a subtentorial lesion, expanded into the left median and paravermian region, associated with hypertensive hydrocephalus. Histopathological analysis revealed a first-degree astrocytom…

Facio-auricle-vertebral spectrum (Goldenhar's syndrome): Clinical study of 10 pediatric patients

Goldenhar's syndrome - also known as facio-auricolo-vertebral spectrum - is due to a developmental defect of cranio-facial and vertebral structures, and is interpreted as a disruption. Exogenous factors, such as gestational diabetes or ovopathies, have been involved in its aetiology. The pathogenesis of Goldenhar's syndrome seems to be vascular in most of cases, due to the interruption of blood supply to the branchial and vertebral areas during embryonic development. Ten cases of facio-auricolo-vertebral spectrum of different ages are described, in view of a better delineation of its phenotype. This report can contribute to a better knowledge of the phenotype of facio-auricolo-vertebral spe…

Neonatal deficiency: Congenital skin aplasia

Aplasia cutis congenita descrizione di casi clinici

Social media use to improve communication on children and adolescent’s health: the role of the Italian Paediatric Society influencers

Abstract Background Fake news on children’s and adolescent health are spreading. Internet availability and decreasing costs of media devices are contributing to an easy access to technology by families. Public health organizations are working to contrast misinformation and promote scientific communication. In this context, a new form of communication is emerging social media influencers. Aim of this study is to evaluate the role of paediatric influencers (PI) in communicating information about children and adolescents’ health. Materials and methods A group of PI was enrolled from December 2019 to January 2020 by a scientific commission nominated by the Italian Paediatric Society (SIP). PI w…

The child with overgrowth between clinical variability and genetic heterogeneity

Either in the newborn or in the child overgrowth can be generalized or localized if it is limited to one or more body regions. When overgrowth depends on a metabolic imbalance, or it is constitutional, the excessive growth can be the only clinical sign. In most cases genomic or epigenetic alterations, which affect factors involved in cell proliferation and/or regulation of gene expression (observed also in tumours), are related to overgrowth syndromes, in which excess growth may be associated with dysmorphic features, neuromotor/intellectual disabilities and behavioural disorders. These rare conditions are characterized by clinical and molecular overlap. The paper describes the cases of thr…

Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects

Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pa…

Microftalmia monolaterale ed agenesia del corpo calloso in un neonato con sindrome MLS/MIDAS da delezione Xpcoinvolgente il gene della olocitocromoc-sintetasi (HCCS).

To investigate cum “granuloma” salis: Chronic granulomatous disease vs Crohn's disease

Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocyte oxidative metabolism that, in addition to infectious complications, is characterized by abnormal inflammatory response leading to the formation of granulomas in multiple tissues both in the presence and absence of microorganisms. Inflammation often involves the gastrointestinal tract and the clinical, laboratory, and histological characteristics are hardly distinguishable from Crohn's disease (CD). CGD is indeed a rare but important differential diagnosis of chronic inflammatory bowel disease (IBD) especially when occurring in early life and its early detection is crucial to improve the prognosis. The paper report…

Osteodysplastic primordial Dwarfism (ODPD): Notes on brain imaging

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Candida Albicans congenital infection in a preterm newborn

Intrauterine infections may be due to a variety of pathogens other than the TORCH groups ones. Although Candida Albicans is frequently isolated within the urogenital tract of pregnant women, the fetal infection is rarely reported. We now report on a 26 weeks preterm baby in whom a Candida infection was diagnosed at birth in relation to gravidic anamnesis and typical micotic manifestations upon the placenta and the umbilical cord. Intensive cares and pharmacological treatment induced a progressive improvement of the clinical course and normalization of the laboratory parameters.

The impact of genetic diseases on neonatal and pediatric care

The impact of genetic diseases on the pediatric population in clinical practice is remarkable and their prevalence has rapidly increased in the last 50 years. A wide diffusion of modern diagnostic techniques has implemented early diagnosis and consequently the precocious start of effective support therapies which have determined an increased survival rate and quality of life. The percentage of genetics anomalies in children hospitalized is really high and amounts to at least 50% of hospital pediatric admissions. Over 5% of stillborn babies, without other known causes, have genetic disorders, and it goes up to 50% in the case of visible malformations.

Rare sex chromosome aneuploidies in humans: Report of six patients with 48,XXYY, 49,XXXXY, and 48,XXXX karyotypes [5]

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