The thymus gland plays a crucial role in the maturation process of lymphocyte T cells. Developmental disorders of this organ might be caused by genetic diseases, such as the 22q11.2 deletion and DiGeorge syndrome. Other manifestations of this condition are heart defects, a reduced number of T cells, hypocalcemia, and facial dysmorphia.A 13-year-old boy with 22q11 deletion syndrome presented with paresis and paresthesia of the right upper extremity. Magnetic resonance imaging (MRI) revealed a solid mass in the retropharyngeal and prevertebral areas. The lesion was excised and, upon histopathological examination, turned out to be ectopic thymic tissue. A follow-up examination showed no recurrence of the lesion.The ectopic thymus is a rare pathology, especially in 22q11 deletion syndrome patients. In general, thymic tissue can be found anywhere along its normal path of descent. In this case, however, its location cannot be explained solely by its embryological origin, as at no point should the thymus or its histological predecessor be located in the retropharyngeal area. As such, this finding challenges our current understanding of thymic embryological genesis.
Diffuse leptomeningeal glioneuronal tumor (DLGNT) is an entity introduced in 2016 World Health Organization classification of tumors of the central nervous system. The tumor occurs very rarely. Due to the lack of specific clinical and radiological features, biopsy is necessary to be performed and histological and immunohistochemical testing is essential to reach the diagnosis. A 4.5-year-old girl presented with a history of headache, vomiting, and right eye convergent squint. Imaging revealed multiple enhancing lesions located supra- and infratentorially and intramedullary. Histopathological examination demonstrated diffused growth of neoplastic cells. Molecular testing revealed KIAA1549-BRAF fusion and the diagnosis of DLGNT was stated.
Objectives: Fractures of the limbs and craniocerebral trauma are the most common injuries in children and adolescents. Their frequency ranges widely from 32% to 85% and is the main reason for hospitalization in pediatric population. The number of injuries sustained under the influence of alcohol is increasing although the data concerning that subject is limited and usually includes both adult and teenage patients.Methods: A group of 111 adolescents (age, 9-18 years), hospitalized after traumatic brain injury with and without alcohol intoxication, was included in the study. We performed the assessment of the severity of the course of the multiorgan and craniocerebral injuries. The study was accepted by the Ethics Committee of the Jagiellonian University Medical College (no: KBET/8/B/2010). Results:The injuries of upper limbs and head and their serious consequences were observed more often in the examined group. The differences of the degree of head and neck injuries measured in the Injury Severity Score between the groups were statistically significant, although the injuries within the examined group were less often serious. There was a negative correlation between the patients' condition according to the Glasgow Coma Scale and the concentration of alcohol in their blood. No link between the patients' assessment in the Injury Severity Score and concentration of alcohol in the blood was noticed.Conclusions: Traumatic brain injury under the influence of alcohol in adolescents differs from trauma in patients who had not drunk alcohol. Similar areas of injury result in a more severe course of illness in the examined group.
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