Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

[Inflammatory diseases of the central nervous system (CNS) are relatively rare in children, but their relevance to public health is considerable due to frequent and significant long term morbidity and even mortality. As in adults, acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS) and their variants are the most common entities in this group of pathologies in the pediatric patient population. Recent efforts have focused on establishing standardized diagnostic criteria schemes to facilitate the diagnosis and differential diagnosis of these diseases, however especially with multiple sclerosis those have not been fully validated yet for disease occurring in children. In recent decades the role of MRI has been constantly increasing in the diagnostic work-up of suspected inflammatory diseases of the CNS as well as in the follow-up of patients with confirmed disease. Currently, MRI is the first-line diagnostic imaging modality in ADEM and MS and is fully integrated in the most widely used diagnostic criteria schemes, but it has a key role in clinical therapeutic research trials as well. This paper provides an update on the current concepts and strategies of MRI in inflammatory diseases of the CNS, as well as a review of the imaging semiology of the various disease entities and variants with emphasis on clinical and imaging particularities relevant to the pediatric patient population.]

[Assessment of early atherosclerosis and decreased arterial elasticity to recognise the cardiovascular dysfunction in high-risk patients has gained importance in the past decade. Since 1990, more than 630 papers have been published in the adult and pediatric literature. Methods of early risk assessment in adults are well determined in international recommendations. The aim of the present work is to review the suggestions of the American Heart Association helping us to find the most appropriate method for the non invasive methods of cardiovascular assessment of young adults and children. Furthermore, multicentric studies should be conducted to create a Framingham like score system for pediatric patients, to render cardiovascular risk assessment much easier for the every day routine.]

[Teleradiology - as a result of recent developments in digital imaging and informatics - appears to be a technology potentially responding to many challenges in the field of diagnostic radiology. It may help in the centralization of service, in the support of emergency care, and in the more accurate diagnosis of cases requiring special skill. Outsourcing of imaging diagnostic reporting activities may solve human resource problems and may decrease wage expenditures. Nevertheless teleradiology exposes also some difficulties (human and technical aspects) which we should recognize in time for being able to protect ourselves.]