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.]

[31th Congress of the Hungarian Pediatric Neurological, Neurosurgical, Pediatric and Adolescent Psychiatric Society 2007;60(01-02)]

[Proper evaluation of the acute scrotum, like any condition, starts with a history and physical examination by an experienced clinician. Often this is all that is needed to arrive at an accurate diagnosis, which then allows prompt and appropriate treatment. However, the true nature of the underlying disease producing scrotal pain is not always clear, and the consequences of error (testicular loss) are undesirable. Ultrasound is the single most useful imaging tool for imaging the scrotum. While nuclear medicine studies can help assess blood flow, the combination of anatomic detail provided by modern ultrasound equipment and the ability to assess blood flow and perfusion with color Doppler makes ultrasound invaluable. Properly performed and interpreted, ultrasound provides very high sensitivity and specificity for acute scrotal conditions. Understanding of the conditions that produce acute scrotal pain in children will improve one’s diagnostic abilities. The most important diagnosis to consider is testicular torsion, since untreated this will result in testicular death. While testicular torsion can occur at any age, it is most common in the perinatal and peripubertal age groups. Torsion of a testicular appendage is a frequent cause of scrotal pain in prepubertal males. The sonographic findings can mimic epididymitis, but diligent and focused sonographic examination can make the diagnosis. Epididymitis typically affects postpubertal males, but can be seen in younger patients with functional or anatomic urinary tract anomalies. Sonographic evaluation of the post-traumatic painful scrotum can help to differentiate injuries that can be managed conservatively and those that require surgery. Less common causes of scrotal pain include hernias and hydroceles, vasculitis, and idiopathic edema. Understanding the characteristic sonographic features of these conditions allows the examining physician to make more accurate and confident diagnoses. It is hoped that this review article will help to promote this understanding.]