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The current severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) pandemic has overwhelmingly absorbed attention and health resources for 2 years, allowing us to reflect that infections are a permanent health and social problem, causing morbidity and mortality. They require organization, important prevention measures, and containment. This is particularly true in the neonatal age, where infections remain a complex problem with serious consequences.

This study was aimed to analyze the commonalities and distinctions of voltage-gated sodium channels, Nav1.2, Nav1.6, in neurodevelopmental disorders. An observational study was performed including two patients with neurodevelopmental disorders. The demographic, electroclinical, genetic, and neuropsychological characteristics were analyzed and compared with each other and then with the subjects carrying the same genetic variants reported in the literature. The clinical features of one of them argued for autism spectrum disorder and developmental delay, the other for intellectual disability, diagnoses confirmed by the neuropsychological assessment. The first patient was a carrier of SCN2A (p.R379H) variant while the second was carrier of SCN8A (p.E936K) variant, both involving the pore loop of the two channels. The results of this study suggest that the neurodevelopmental disorders without overt epilepsy of both patients can be the consequences of loss of function of Nav1.2/Nav1.6 channels. Notably, the SCN2A variant, with an earlier expression timing in brain development, resulted in a more severe phenotype as autism spectrum disorder and developmental delay, while the SCN8A variant, with a later expression timing, resulted in a less severe phenotype as intellectual disability.

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 astrocytoma. The aim of this case report is to highlight the importance of tumors as the differential diagnosis of acquired torticollis in children.

Introduction and objectives Surrogate biomarkers of liver fibrosis developed in tertiary care are increasingly used in general populations. We evaluated the association between liver stiffness (LS) and five continuous (AST/ALT, APRI, Forns Index, FIB-4, GGT) and two discrete biomarkers (BARD, BAAT) in a general population. Patients and methods 636 (29%) of the 2159 citizens of the Bagnacavallo Study had LS measured by transient elastography. Using linear regression with univariate multiple imputation, we evaluated the association of LS with the above biomarkers in the total sample of 2159 citizens. Results The mean change of LS between the 5th and 95th internal percentile of any continuous biomarker was ≤1 kPa. The mean change of LS between scores 0 and 3 of BARD and scores 0 and ≥3 of BAAT was >1 kPa but of doubtful clinical relevance. Conclusion We found a modest association between LS and seven biomarkers of liver fibrosis in a general population.

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.

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 reports the case of a 2-year-old boy who had a clinical presentation mimicking Crohn's disease with anal abscess, falling off the growth curve, elevated inflammatory parameters, and iron deficiency anaemia, whose diagnosis proved to be CGD.

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 in tertiary care center, given the high perinatal morbidity. At hospital discharge the FGR infant should be enrolled, in a multidimensional individualized developmental follow-up. Subjects who have suffered from FGR should adopt a healthy lifestyle.

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.

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 spectrum. The main features are hemifacial hypoplasia, epibulbar dermoid, external ears abnormalities and vertebral defects. Among the associated abnormalities, urinary tract defects were found with a higher frequency in relation to a common developmental defect.

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Background. In the last years thalassemic patients gained a good improvement in prognosis and life style. However, short stature and hypogonadism are still frequent endocrine problems in this population. Methods. In a group of eleven thalassemic males (14-18 years old), the spontaneous nocturnal endocrine patterns of LH and FSH and plasma gonadotropins in response to GnRH were studied. The profiles were analyzed using a computer program (PULSAR) to determine the secretion pattern (number and amplitude of peaks) and the area under the curve above the secretion baseline (AUC). The endocrine status was compared with liver fibrosis, iron overload and transfusional regimen. Results. A regular and homogeneous transfusion and chelation management often does not prevent pubertal failure; it is related with the degree of liver fibrosis and often it is due to hypothalamic and/or pituitary dysfunction. Concusions. Spontaneous gonadotropin profiles can be useful to evaluate hypogonadotropic hypogonadism in order to start the correct treatment.

Resistance to thyroid hormones (RTH) is a rare condition of reduced activity of thyroid hormones on peripheral tissues and/or reduced suppression of TSH secretion by thyroid hormones. The disease is characterised by high serum levels of T3, T4, fT3 and fT4, and by unexpectedly normal or high TSH levels. The origin of the resistance has been recognised in a thyroid hormone receptor deficit, whose gene (TRβ) has been mapped on chromosome 3p24.3 and several mutations have been identified. The clinical presentation may vary among a large spectrum from hypo-, to eu-, to hyperthyroidism in different patients, even in the same family. The diagnosis of RTH at birth and in the first months of life is unfrequently suspected, because the disease doesn't appear or presents with mild simptoms. We report on the early diagnosis and therapy at neonatal age for a kindred (one male and two females) who have come to our attention because the first son was positive at neonatal screening for hypothyroidism. The recognition of the correct diagnosis in the propositus led to the study of the parents and subsequently to an early diagnosis for the following two sisters. It has been possible to identify and treat the only patient who presented simptoms of hypothyroidism; the others were clinically euthyroid and didn't need any treatment. The importance of the role of thyroid hormones in pediatric age, expecially in the first months of life, underlines the value of an early diagnosis in order to identify those patients who require treatment to garantee adeguate levels of thyroid hormones and then to prevent severe and permanent deficits of CNS and growth.

Discitis is an inflammatory disease of the intervertebral disc which has usually a benign evolution in childhood. It often recognizes an infectious etiology. Still discussed however is the possibility of a primitive discal involvement (not secondary to a vertebral inflammation) or of a non infectious etiology and the subsequent more correct diagnostic-therapeutic procedures. We report a case of a girl with discitis diagnosed early and treated with antibiotics and orthopedic corset, whose follow-up shows a benign evolution. We underline the importance of modern neuroradiological imaging: in particular, MR plays a major role in the inflammatory diseases of the column, both in diagnosis and in follow-up. MR scans of the involved disc allow frequent controls without radiogenic risks and with a good resolution because of the multiplanarity typical of the method.

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.

Background. Pulmonary hypertension in childhood is uncommon. It can be idiopathic or secondary to other pathologies (cardiovascular, skeletric,...). Case description. We report on a 9 year old girl suffering from pulmonary hypertension due to severe dorso-lumbar scoliosis. Conclusions. We discuss the etiopathogenetic relationship between scoliosis and pulmonary hypertension, with particular reference to the role of the treatment with Milwaukee's corset in the evolution of the disease.

The seric levels of IGF1 and IGFBP3 and their molar ratio, together with clinical and auxological parameters, have been evaluated in 16 patients (8 males and 8 females), of average age of 11.6±8.66 months, who were suffering from complex food allergy and were subjected to a balanced diet whill excluded the "offending" food. The results, compared "with those of a control population of same age and body surface, have showln a significative reduction of IGF1 and an increase of the molar ratio IGFBP3/IGF1. These observations suggest that, in spite of no significative variation of growth in height and weight, an exclusion diet for a food allergy can reduce the biological activity of some hormonal factors of growth.

We present our experience of treatment of the last three cases of Lyell syndrome we have observed. They are three female children, aged between 16 months and 3 years, who showed many features in common with severely burnt patients (large exuding lesions, severe reduction of circulating plasmatic volume, large denuded body surfaces, severe tendency to infections, ...). Therefore, together with the already known scheme of treatment (corticosteroids, correction of hydroelectrolitic balance, antimicrobials), we decided to use intravenous Immunoglobulins (IVIG), which had been already positively used in severely burnt patients. The favorable evolution of the affection in all three cases and the absence of any complications, above all infectious, sproned us to refer our experience.