Brain hemispheres are connected by commissural structures, which consist of white matter fiber tracts that spread excitatory stimuli to various regions of the cortex. This allows an interaction between the two cerebral halves. The largest commissure is the corpus callosum (CC) which is located inferior to the longitudinal fissure, serving as its lower border. Sometimes this structure is not completely developed, which results in the condition known as agenesis of the corpus callosum (ACC). The aim of this paper was to review the latest discoveries related to the genetic and metabolic background of ACC, including the genotype/phenotype correlations as well as the clinical and imaging symptomatology. Due to various factors, including genetic defects and metabolic diseases, the development of CC may be impaired in many ways, which results in complete or partial ACC. This creates several clinical implications, depending on the specificity of the malformation and other defects in patients. Epilepsy, motor impairment and intellectual disability are the most prevalent. However, an asymptomatic course of the disease is even more common. ACC presents with characteristic images on ultrasound and magnetic resonance imaging (MRI).

Summary: Introduction: Rising child obesity rate creates a need for tools quantifying changes in children suffering from obesity, for purposes of detection or prevention of comorbidities. A candidate for such a role seems to be microRNAs, which in vivo serve as the suppressing factors in gene expression.Objectives: This study aimed at reviewing recent discoveries in this field and concluding directions of research or application of studied molecules.Methods: Repeated browsing of databases and screening of results, led to final approval of 16 articles. Filtered studies examined differences in microRNA expression between subjects with obesity and children suffering from its comorbidities.Results: Studies concerning endothelial dysfunction identified molecules miR‐320a and miR‐630 as a possible diagnosis and treatment option. Search for the alternative markers in diagnosis of non‐alcoholic fatty liver disease suggested value of molecules: miR‐199a‐5p and miR‐122. miR‐486, miR‐146b, and miR‐15b may serve in grading the development of type 2 diabetes in children, although further research raised doubts. Panel of molecules was indicated as useful in early detection of metabolic syndrome and insulin resistance associated alterations. No valid link between studied microRNAs and atherosclerosis was found.Conclusions: MicroRNAs seem to be promising prognostic markers for diagnosis of endothelial dysfunction, non‐alcoholic fatty liver disease, type 2 diabetes, metabolic syndrome and insulin resistance in children.

Levodopa remains the primary drug for controlling motor symptoms in Parkinson’s disease through the whole course, but over time, complications develop in the form of dyskinesias, which gradually become more frequent and severe. These abnormal, involuntary, hyperkinetic movements are mainly characteristic of the ON phase and are triggered by excess exogenous levodopa. They may also occur during the OFF phase, or in both phases. Over the past 10 years, the issue of levodopa-induced dyskinesia has been the subject of research into both the substrate of this pathology and potential remedial strategies. The purpose of the present study was to review the results of recent research on the background and treatment of dyskinesia. To this end, databases were reviewed using a search strategy that included both relevant keywords related to the topic and appropriate filters to limit results to English language literature published since 2010. Based on the selected papers, the current state of knowledge on the morphological, functional, genetic and clinical features of levodopa-induced dyskinesia, as well as pharmacological, genetic treatment and other therapies such as deep brain stimulation, are described.

Vitamin D deficiency in children is a common nutritional issue in many populations worldwide, associated not only with skeletal malformations but, as recent studies suggest, also with the development of obesity and metabolic syndrome. The aim of this observational study was to assess the nutritional status of vitamin D in a group of Polish children with obesity and different grades of metabolic syndrome, with a consequent analysis of the correlation between vitamin D levels and the components of metabolic syndrome. For that purpose, the group of 78 participants (mean age: 14.18 ± 2.67 years) was recruited and further grouped in relation to vitamin D status into two groups of children with and without vitamin D deficiency. The biochemical parameters associated with obesity as well as anthropometric measures were assessed and analysed in search of significant differences between the groups. In the current group of children with obesity and vitamin D deficiency, HDL (45.00 ± 9.29) and adiponectin (7.21 ± 1.64) were found to be significantly lower than in their peers without vitamin D deficiency, whereas W/HtR (0.60 ± 0.04) and TG (171.31 ± 80.75) levels proved to be significantly higher. Body composition analysis using bioelectrical impedance returned no significant findings. The above findings suggest that vitamin D deficiency may influence lipid and glucose metabolism in children, leading to the development of abnormalities characteristic of the metabolic syndrome. A W/HtR parameter was shown to be a sensitive marker of abdominal obesity, which might provide an important means of assessing the correlation between vitamin D and this type of obesity. Independently, vitamin D deficiency may also influence the endocrinological function of adipose tissue, leading to lower concentrations of adiponectin. These in turn presented a linear correlation with the high results of the OGTT in the second hour of the test, hinting at its potential role in the pathophysiology of insulin resistance.

Congenital disorders of glycosylation (CDGs) are a wide group of genetic diseases characterised by a severe clinical spectrum, consisting of developmental delays, dysmorphisms, and neurological deficits. Mutations in the PIGV gene lead to a disorder called hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1), distinct from other CDGs in terms of hyperphosphatemia related to abnormal ALP activity and brachytelephalangy. This article discusses the phenotype of six Polish patients with HPMRS1 with a special focus on behavioural and imaging features, which were not addressed in 26 previously reported cases. The medical records of six patients aged 6 to 22 years were collected and analysed. In all cases, the same PIGV homozygotic mutation (c.1022C>A; p.Ala341Glu) was found, although the patients presented a diverse spectrum of neurological and developmental disorders, concerning in most cases the muscular tonus and general developmental delay. The most prevalent dysmorphic features included hypertelorism, high palate, and finger anomalies, whereas other characteristics present in all previously described cases, such as a short, broad nose and brachytelephalangy, were less frequently observed. Similarly to previous reports, the magnetic resonance (MR) and computed tomography (CT) head scans returned varied results, including physiological and pathological brain images in equal measure, the latter of which consisted of cortical atrophy, delayed myelination, hydrocephalus, and hypoplastic corpus callosum. Each patient exhibited symptoms characteristic of autism spectrum disorders, especially in terms of attention deficits, as well as controlling and expressing emotions. The most common type of sensory processing disorder was over-responsivity. Despite the low prevalence of HPMRS1, the patients reported in the literature presented a rather uniform phenotype, which does not correspond with the one found in each individual of the studied group. Behavioural disorders and sensory impairment require additional care and awareness considering the global developmental delay often observed in these patients.

Chronic recurrent multifocal osteomyelitis (CRMO) is a non-infectious inflammatory disorder resulting from the multifocal bone and bone marrow lesions with periodic relapses and remissions and with an uncertain prognosis. Treatment options in CRMO are based on expert opinion and relatively small groups of patients. A nine-year-old female patient with no significant past medical history presented with compression fractures and multifocal bone lesions in the thoracic and lumbar spine, as shown in imaging (CT, MRI). Densitometry revealed a diffuse decrease in bone density. Based on the patient’s clinical image and above examinations, the other possible aetiologies—infectious (including tuberculosis), neoplasms, Langerhans cell histiocytosis—were ruled out, which led to eventual final diagnosis—CRMO. The patient was successfully treated with pamidronate infusion initiated in cycles over three consecutive days every 3 months. In addition to clinical improvement, there was a significant remission of inflammation and bone structure healing assessed by MRI after four treatment cycles. Intravenous bisphosphonates usage seems to be a good therapeutic option in CRMO paediatric patients with spinal localization of the lesions complicated by compressive fractures. However, more data, based on larger patient populations, are needed to provide a detailed paediatric CRMO treatment algorithm.