Background Nowadays, we can distinguish more than two types of diabetes mellitus. Due to blood glucose measurement and genetic tests, different types of diabetes (such as autoimmune, monogenetic, atypical) can be detected. Despite the constantly updated recommendations and the progress of diagnostic tests, making a diagnosis may be difficult. Case report A 23-year old patient was admitted to the Department of Endocrinology due to diagnosed diabetes mellitus to determine its primary cause. Elevated blood glucose level was identified during periodic medical test and was confirmed by OGTT test. In the patient’s medical history: Ollier’s disease with multiple enchondromas, treated surgically in childhood, no typical symptoms and risk factors of hyperglycaemia. During hospitalization the laboratory tests showed decreased level of C-peptide, nevertheless the patient represented acceptable levels of glycaemia following only by diet restriction. MODY, LADA and diabetes due to Ollier’s disease was speculated. Due to suspicion of autoimmunological cause the diagnostic was extended by testing antibodies: IAA, IA2, GAD, IC, which confirmation allowed to recognise untypical diabetes mellitus type 1. The patient objected to insulin treatment, limited it only to a diet and maintained normoglycemia for 15months. However, after an increase in glycaemia and in HbA1c, insulin therapy was introduced. Disscussion with conclusion Atypical course of diabetes should be considered in patients with a known disorder or with comorbidities associated with diabetes and without typical symptoms of hyperglycaemia. Atypical forms of diabetes are uncommon and require etiology-specific therapies.
Cerebral venous sinus thrombosis (CVST) in childhood is a rare disorder, occurring most often in the neonatal period, with mortality approaching 10%. This condition has multifactorial etiology including common childhood illnesses such as fever, infection, dehydration, and anemia, as well as acute and chronic medical conditions such as congenital heart disease, nephrotic syndrome, and malignancy. Thrombosis can also develop and propagate in response to local venous stasis. A large number of children have coincident local head or neck pathology, including head trauma, brain tumors, or recent intracranial surgery. Clinical symptoms are frequently nonspecific and include seizures, depressed level of consciousness, coma, lethargy, nausea, vomiting, headache, visual impairment, papilledema, and hemiparesis, which may often obscure the diagnosis and delay treatment. In the case of patients with neurological symptoms, imaging studies such as computed tomography (CT) and magnetic resonance imaging (MRI) are invaluable in diagnostics of various pathologies of the nervous system, because of their non-invasiveness, high sensitivity, and specificity. Early diagnosis with management along with a plan for secondary prevention can save from catastrophic consequences.
Pediatric trauma is a cause for over 750.000 visits to emergency departments each year. Of all types of traumas, head injuries represent the group at most risk. Computed tomography (CT) is still the most frequently used advanced imaging method to distinguish cases of severe injuries out of thousands of mild or apparently trivial injuries. The aim of this study was to review the results of CT in terms of clinical prediagnosis and radiological findings in children categorized into four age groups, who underwent a CT scan in the Pediatric Emergency Department (ED). Among all CT studies, no findings were found in 552 (80.23%) patients, whereas CT findings were detected in 98 (14.2%) boys and 38 (5.5%) girls from all participants. The incidence of lesions in the male group is 2 times higher than in the female group. The most common abnormality was hematoma representing 26.47% of all confirmed lesions and 5.23% among all head CTs performed from the ED. Head CT is an incredibly useful tool in the evaluation of some head emergencies. However, in the majority of cases, the clinical presentation with which children present to the ED does not correlate with the severity of neuroimaging results.
The most common malignancy affecting children is leukemia, which in infants refers to be diagnosed before 1 year of age and is relatively rare, but remains a problem for clinicians due to its aggressive clinical presentation, poor response to current treatments, and molecular biology. Infants with acute leukemia tend to present with aggressive features, including hyperleukocytosis, hepatosplenomegaly, central nervous system (CNS) involvement, and cutaneous infiltration. In infant leukemia, the KMT2A gene rearrangement at chromosome 11q23 is quite common. Infants diagnosed with acute leukemia harboring a 11q23 rearrangement have a particularly poor prognosis when compared to other children with acute leukemia. A 10-month-old girl was admitted in December 2017 to the Department of Pediatric Hematology, Oncology and Transplantology in Lublin with the suspicion of leukemia. One week before hospitalization minor bruises began to appear on the skin, unrelated to an injury. The child was admitted to the hospital, and there a complete blood count showed anemia, hiperleukocytosis and thorombocytopenia. On the admission to the Clinic: the severe general condition of the patient, with features of cardiopulmonary insufficiency were confirmed. Due to the patient's age and the presence of the KMT2A/MLLT3-t(9;11) (p22;q23) gene rearrangement, the infant was stratified as a high-risk group (HRG) and chemotherapy was started in accordance with the therapeutic program. Infant leukemia is one of the most difficult clinical situations encountered in pediatric oncology. Given the infant’s vulnerability and unique genetic rearrangements, there is a need to develop new protocols and therapies for infants.
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