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According to the DSM-5, neurodevelopmental disorders represent a group of heterogeneous conditions, with onset during the developmental period, characterized by an alteration of communication and social skills, learning, adaptive behavior, executive functions, and psychomotor skills. These deficits determine an impairment of personal, social, scholastic, or occupational functioning. Neurodevelopmental disorders are characterized by an increased incidence and a multifactorial etiology, including genetic and environmental components. Data largely explain the role of genetic and environmental factors, also through epigenetic modifications such as DNA methylation and miRNA. Despite genetic factors, nutritional factors also play a significant role in the pathophysiology of these disorders, both in the prenatal and postnatal period, underscoring that the control of modifiable factors could decrease the incidence of neurodevelopmental disorders. The preventive role of nutrition is widely studied as regards many chronic diseases, such as diabetes, hypertension, and cancer, but actually we also know the effects of nutrition on embryonic brain development and the influence of prenatal and preconceptional nutrition in predisposition to various pathologies. These factors are not limited only to a correct caloric intake and a good BMI, but rather to an adequate and balanced intake of macro and micronutrients, the type of diet, and other elements such as exposure to heavy metals. This review represents an analysis of the literature as regards the physiopathological mechanisms by which food influences our state of health, especially in the age of development (from birth to adolescence), through prenatal and preconceptional changes, underlying how controlling these nutritional factors should improve mothers’ nutritional state to significantly reduce the risk of neurodevelopmental disorders in offspring. We searched key words such as “maternal nutrition and neurodevelopmental disorders” on Pubmed and Google Scholar, selecting the main reviews and excluding individual cases. Therefore, nutrigenetics and nutrigenomics teach us the importance of personalized nutrition for good health. So future perspectives may include well-established reference values in order to determine the correct nutritional intake of mothers through food and integration.

IntroductionSars-CoV-2 is a single-strained RNA virus belonging to Coronaviridae’s family. In pediatric age, the majority of patients is asymptomatic; however, several neurological manifestations associated with Sars-CoV-2 infection have been detected in a percentage of cases ranging from 17.3 to 36.4%. Acute disseminated encephalomyelitis (ADEM) has been recently included among the potential complications of Sars-Cov2 infection. The available data regarding pediatric patient show only one case.Case reportWe present a case regarding a 6-year-old patient suffering from Fisher-Evans syndrome who was given sirolimus and thalidomide therapy. After 10 days since the first positive nasopharyngeal swab for Sars-CoV-2, in which he had no symptoms, he presented an episode of generalized tonic-clonic seizure with spontaneous resolution. The patient underwent MRI which showed the typical picture of acute disseminated encephalomyelitis. His clinical course was favorable, with a good response to cortisone therapy and a progressive improvement of the neuroradiological and electroencephalographic picture.ConclusionsAccording to our knowledge, this is the second case of an acute disseminated encephalomyelitis following SARS-CoV-2 infection in a pediatric patient, characterized by monosymptomatic onset, in which the immunosuppressive therapy practiced for the Fisher-Evans syndrome has probably contributed to a favorable evolution of ADEM, in contrast to other case described in the literature.

In childhood, assessing the history of headaches in children can be challenging due to their age and the reliance on parental reports, which may sometimes lead to under/over-reporting of symptoms. This study utilized the ID Migraine questionnaire to evaluate the presence of headaches in a sample of children and examined the correlation between the children's responses and those of their mothers. A cohort of children aged 10-12 years and their mothers administered the ID Migraine questionnaire separately, which included questions about the children's headaches. The cohort comprised 68 children (35 females and 33 males) aged 10-12 years. Within the last 3 months, 24/68 (35.3%) reported experiencing a history of headache episodes. Headache was reported by 16/35 females (45.7%) and 8/33 males (24.2%). Of the total, only 2/68 (2.95%) met two of the three criteria for potential migraine classification, 11/68 (16.1%) met at least one criterion, and 11 reported headaches but did not meet any criteria. Discrepancies between the children's and mother's responses occurred in 23/68 cases (33.8%), of which 14 (about 61%) disagreed about the occurrence of headaches in the past 3 months and 9 (about 49%) had inconsistencies in their responses to the Migraine ID items. These results highlight the challenges of collecting headache data in children under 12 years of age. Notably, there is a discrepancy between children's and mothers' reports, with underreporting headaches reported by the other in nearly 60% of the conflicting cases. Additionally, the incidence of migraine observed in this sample was lower than what is commonly suggested in the literature.

Headache represents one of the most prevalent and disabling conditions in the pediatric population, with significant repercussions on mental and psychological well-being, as well as on academic achievement and social functioning, ultimately leading to a marked reduction in quality of life. Currently, the diagnosis of headache is based on the clinical criteria of the third edition of the International Classification of Headache Disorders (ICHD-3). However, the characteristics of headache may differ between adults and children, as well as the ability of children to provide a complete description of the pain and associated symptoms. The immature narrative skills of children can represent a limitation in defining the clinical phenotype of headache, making the diagnosis more complex. This is even more challenging when extracting information about the characteristics of the headache in children whose verbal expression is poorly developed or completely absent. Given these limitations, clinical psychology has long used drawing as an effective diagnostic instrument to bypass verbal communication barriers. This tool provides unique access to children’s psychological and emotional states, as a direct window into their inner world and as an expressive medium that often generates more detailed, accurate, and clinically actionable information, compared to verbal reports alone. For these reasons, drawing has been recognized as a valuable diagnostic tool for decades, with multiple studies demonstrating specificity and accuracy rates comparable to standard clinical assessments. Particularly for young children, drawings may give access to fundamental information that might otherwise remain inaccessible, thereby allowing both accurate diagnosis and individualized treatment planning. Multiple studies have highlighted and confirmed the graphic differences between representations of various types of headaches and the undeniable utility of an “artistic diagnosis” alongside the clinical one. Furthermore, the literature suggests and encourages the use of drawing in clinical practice, both in the diagnostic process and during subsequent follow-up, as an effective, enjoyable, easy-to-use, and low-cost resource. Accordingly, we propose a narrative review accompanied by a curated collection of drawings that may help identify and categorize specific correlations between graphic representations and clinical phenotypes, such as pain location, quality, intensity, association with nausea and vomiting, photophobia and phonophobia, and types of migraine aura. Our goal is to create a visual reference that can aid clinicians in the accurate interpretation of children’s drawings. Additionally, we aim to promote the integration of this method into routine clinical practice to improve diagnostic precision and support a more child-centered model of care. We also hope to propose new iconographic models to further enrich the diagnostic framework.

Background. The orofacial pain syndromes (OFPs) are a heterogeneous group of syndromes characterized by painful attacks involving the orofacial structures. They may be summarily subdivided into two great categories: (1) orofacial pain mainly attributed to dental disorders such as dentoalveolar and myofascial orofacial pain or temporomandibular joint (TM) pain; (2) orofacial pain mainly attributed to non-dental pain as neuralgias, facial localization of primary headaches or idiopathic orofacial pain. The second group is uncommon, often described by single case reports, can often show overlapping symptoms with the first group, and represents a clinical challenge, carrying the risk of undervaluation and possibly invasive odontoiatric treatment. We aimed to describe a clinical pediatric series of non-dental orofacial pain and better to underline some topographic and clinical features associated with them. We retrospectively collected the data of children admitted to our headache centers (Bari, Palermo, Torino) from 2017 to 2021. Our inclusion criterion was the presence of non-dental orofacial pain following the topographic criteria of 3° International Classification of Headache Disorders (ICHD-3), and exclusion criteria included the pain syndromes attributed to the dental disorders and pain syndromes due to the secondary etiologies Results. Our sample comprised 43 subjects (23/20 M/F, in the range of ages 5–17). We classified them int: 23 primary headaches involving the facial territory during attacks, 2 facial trigeminal autonomic cephalalgias, 1 facial primary stabbing headache, 1 facial linear headache, 6 trochlear migraines, 1 orbital migraine 3 red ear syndrome and 6 atypical facial pain. All patients described debilitating pain for intensity (moderate/severe), 31 children had episodic attacks, and 12 had continuous pain. Almost all received drugs for acute treatment (less than 50% were satisfied), and some received non-pharmacological treatment associated with drug therapy Conclusion. Although rare OFP can occur in pediatric age, it can be debilitating if unrecognized and untreated, affecting the psychophysical well-being of young patients. We highlight the specific characteristics of the disorder for a more correct and earlier identification during the diagnostic process, already difficult in pediatric age, and to define the approach and possible treatment to prevent negative outcomes in adulthood.

Background Botulism is a rare and life-threatening disease caused by the potent botulinum neurotoxin (BoNT), which can be produced by Clostridium botulinum ( C. botulinum ) and related bacteria. Clinical manifestations, which include a symmetrical, descending muscular paralysis, generalized hypotonia, and potentially respiratory failure, are non-specific and diagnosis is challenging, especially when anamnesis does not reveal any typical risk factor, like honey consumption. Case Presentation We present what is, to the best of our knowledge, the first documented case of infant botulism (IB) in Sicily and discuss its peculiarities and the challenges faced in the diagnostic-therapeutic process. The infant was exclusively breastfed and no history of consumption of possibly contaminated foods, like honey, was found. The signs observed at presentation included poor suction, hypotonia, and hyporeactivity. A detailed anamnesis motivated the suspicion of botulism, due to the occurrence of constipation and exposure to dust from home renovation works during the days before the onset of symptoms. The botulinum antitoxin was administered and the diagnosis was confirmed through fecal examination, detecting toxin-producing C. botulinum . Conclusion IB should be considered in every infant with rapidly progressing hypotonia and a history of constipation. However rarely, transmission could occur through inhalation of dust particles containing the toxin, therefore it is important to explore all possible sources of exposure. In the case described, timely diagnosis and treatment determined the successful outcome, which highlights the importance of early intervention in managing IB.

Background and Objectives: Pulmonary embolism (PE) has a major burden of morbidity and mortality, consequently the need for a prompt risk stratification for these subjects is crucial. In order to evaluate the risk management and final disposition of patients with PE in the Emergency Department (ED), we conducted a study that was divided in two phases: Phase I retrospective study (RS), Phase II prospective study (PS). Materials and Methods: In Phase I, 291 patients were enrolled while in Phase II, 83 subjects were evaluated. In both study phases, the enrolled subjects were analyzed for final disposition in ED using PESI score, right ventricle (RV) imaging, and high-sensitive cardiac troponin I (hs-cTnI) data. The RS patients were divided into low risk and high risk according to the sPESI score, while PS patients were grouped in low, intermediate, and high risk classes according to PESI score. In both study phases, all the studied patients were further divided into negative (hs-cTnI−) or positive (hs-cTnI+) groups according to hs-cTnI levels within normal or above cutoff values, respectively. For all enrolled subjects, CT pulmonary angiography was analyzed to assess the RV/LV diameter and volume ratio as an indicator of RV involvement. Results: In both RS and PS phases, hs-cTnI+ group showed a higher PESI score. Nevertheless, a significant percentage of hs-cTnI+ patients resulted to be in the low-risk PESI class. Patients with a positive RV/LV ratio were more likely to have a hs-cTnI+ (p < 0.01), while among those with a negative ratio, 24 to 32% showed as hs-cTnI+. In the hs-cTnI+ group from both study phases, patients were more likely to be admitted in an ICU (RR 3.7, IC: 2.1–6.5). Conclusions: In conclusion, in patients with PE in the ED compared PESI score alone, the combination of hs-cTnI and PESI seems to be of greater utility in improving risk stratification and final disposition decision-making.

Background Parathyroid carcinoma is a rare endocrine malignancy, rarer when synchronous with a non medullary well differentiated thyroid carcinoma. Parathyroid carcinoma accounts of 0.005% of all malignant tumors and it is responsible for less than 1% of primary hyperparathyroidism. The intrathyroidal localization of a parathyroid gland is not frequent with a reported prevalence of 0.2%. Carcinoma of parathyroids with intrathyroidal localization represents an even rarer finding, reported in only 16 cases described in literature. The rare constellation of synchronous parathyroid and thyroid carcinomas has prompted us to report our experience and perform literature review. Case presentation We herein report a case of a 63-years-old man with multinodular goiter and biochemical diagnosis of hyperparathyroidism. Total thyroidectomy with radio-guide technique using gamma probe after intraoperative sesta-MIBI administration and intraoperative PTH level was performed. The high radiation levels in the posterior thyroid lobe discovered an intrathyroidal parathyroid. Microscopic examination revealed a parathyroid main cell carcinoma at the posterior thyroidal left basal lobe, a classic papillary carcinoma at the same lobe and follicular variant of papillary carcinoma at the thyroidal right lobe. To the best of our knowledge, this is the first case documenting a synchronous multicentric non medullary thyroid carcinomas and intrathyroidal parathyroid carcinoma. Conclusions Our experience was reported and literature review underlining challenging difficulties in diagnostic workup and surgical management was carried out.

Background Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and a difficult diagnosis. The disease is often secondary to a neoplastic lesion, seldom diagnosed years later. Psychiatric symptoms are prevalent in adults; neurologic symptoms are more evident in children, who typically present primarily with neurological symptoms. To the best of our knowledge, the association with juvenile idiopathic arthritis has not been described. Case presentation We report the cases of two caucasian girls with an atypical presentation. The first patient was an 8-year-old girl with normal psychomotor development. Over a 4-month period she developed behavioral problems, speech impairment, and deterioration in academic skills. Within 8 months from the onset of symptoms, choreic movements gradually appeared. Hematological, neuroradiological, and neurophysiological examinations were negative; however, her symptoms worsened and treatment with prednisone was started. Although her choreic movements improved within 1 month, her neuropsychological and behavioral symptoms continued. Anti-N-methyl-D-aspartate receptor antibodies in cerebrospinal fluid and in blood were detected. Therapy with intravenously administered immunoglobulins was administered, without improvement of symptoms. After 2 months of steroid treatment, she suddenly started to pronounce some words with a progressive improvement in language and behavior. The second patient was a 14-year-old girl with classic anti-N-methyl-D-aspartate receptor encephalitis, treated successfully with intravenously administered immunoglobulins and methylprednisolone, followed by orally administered prednisone, who developed chronic arthritis of the hip. The arthritis was confirmed by magnetic resonance imaging and associated to antinuclear antigen antibody positivity. One year after the encephalitis presentation, an ovarian cystic mass was identified as a teratoma. The surgical resection of the mass was followed by the resolution of the psychotic spectrum and arthritis. Conclusions Anti-N-methyl-D-aspartate receptor encephalitis in pediatric patients can present initially with neuropsychological and behavioral symptoms. In the literature, the association of anti-N-methyl-D-aspartate receptor encephalitis with juvenile idiopathic arthritis is not yet described: to the best of our knowledge, this is the first case reported. The link to a neoplastic lesion can explain the favorable course of encephalitis and arthritis, after the surgical resection of the mass. Early diagnosis and treatment can improve the patient’s outcome.

We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children’s hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4.9 × 109/L) and thrombocytopenia (platelets 97 × 109/L) and high values of lactate dehydrogenase (2855 U/L) were identified; a packed red cells transfusion was administered. Her condition worsened and she subsequently presented complete right hemiplegia, aphasia and coma; magnetic resonance imaging revealed a massive ischemic lesion. A diagnosis of PNH was eventually made following high sensitivity flow cytometry, which identified a PNH clone (CD66b negative equal to 93.7% of granulocytes). Fast recovery from neurologic and hematological problems occurred in response to anticoagulant therapy and intravenous therapy with eculizumab. We are convinced that PNH should be included in the differential diagnosis of children presenting with cytopenia.