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P>Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the accumulation of glycosaminoglycans deposits in ocular tissues or secondary to increased intracranial pressure. Typical ocular features in MPS include corneal clouding, retinopathy, glaucoma, optic disc swelling, optic atrophy, and ocular motility and refractive error problems. This paper reviews the ocular features in patients with MPS, discusses the diagnosis of these ocular features and the diagnostic problems that may arise in patients (children) with MPS, and highlights the central role ophthalmologists may play in the diagnosis and follow-up of these patients

Since December 2019, coronavirus disease (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread, becoming the first pandemic of the 21st century by number of deaths (over 2,000,000 worldwide). Many aspects of SARS-CoV-2 infection in children and adolescents remain unclear, and optimal treatment has not yet been defined. Therefore, our goal was to develop a consensus document, practically synthesizing the accumulated data and clinical experience of our expert group. Literature research was carried out using the keywords “COVID-19” or “SARS-CoV-2” and “children” or “pediatrics” and “prevention” or “diagnosis” or “MIS-C” or “treatment” in electronic databases (MEDLINE, PUBMED), existing guidelines and gray literature. The fact that the majority of the problems posed by SARS-CoV-2 infection in pediatric age do not need hospital care and that, therefore, infected children and adolescents can be managed at home highlights the need for a strengthening of territorial pediatric structures. The sharing of hospitalization and therapeutic management criteria for severe cases between professionals is essential to ensure a fair approach based on the best available knowledge. Moreover, the activity of social and health professionals must also include the description, management and limitation of psychophysical-relational damage resulting from the SARS-CoV-2 pandemic on the health of children and adolescents, whether or not affected by COVID-19. Due to the characteristics of COVID-19 pathology in pediatric age, the importance of strengthening the network between hospital and territorial pediatrics, school, educational, social and family personnel both for strictly clinical management and for the reduction in discomfort, with priority in children of more frail families, represents a priority.

Our findings depict a pattern of demographic, clinical, neuroimaging, and laboratory findings that can help to distinguish, at clinical onset, children suffering from ADEM from those who will develop MS. Childhood-onset MS seems not to differ from adult-onset MS from both clinical and paraclinical features.

BackgroundTo review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.MethodsA cohort of NCL patients was recruited through CLNet, a nationwide network of child neurology units. Diagnosis was based on clinical and pathological criteria following ultrastructural investigation of peripheral tissues. Molecular confirmation was obtained during the diagnostic procedure or, when possible, retrospectively.ResultsOne hundred eighty-three NCL patients from 156 families were recruited between 1966 and 2010; 124 of these patients (from 88 families) were tested for known NCL genes, with 9.7% of the patients in this sample having not a genetic diagnosis. Late infantile onset NCL (LINCL) accounted for 75.8% of molecularly confirmed cases, the most frequent form being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL patients accounted for 17.7% of this cohort, a smaller proportion than found in other European countries. Gene mutations predicted severe protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 cases. An incidence rate of 0.98/100,000 live births was found in 69 NCL patients born between 1992 and 2004, predicting 5 new cases a year. Prevalence was 1.2/1,000,000.ConclusionsDescriptive epidemiology data indicate a lower incidence of NCLs in Italy as compared to other European countries. A relatively high number of private mutations affecting all NCL genes might explain the genetic heterogeneity. Specific gene mutations were associated with severe clinical courses in selected NCL forms only.

Our data suggest that sex-based differences in oxidant injury vulnerability occurring early in life could represent a biological mechanism contributing to gender disparity later in life.

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