Subject(s)
Astrocytoma/genetics , Brain Neoplasms/genetics , Isocitrate Dehydrogenase/genetics , Astrocytoma/diagnostic imaging , Astrocytoma/pathology , Astrocytoma/surgery , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/pathology , Brain Neoplasms/surgery , Child , Craniotomy , Female , Humans , Isocitrate Dehydrogenase/metabolism , Magnetic Resonance Imaging , Mutation , Tumor Suppressor Protein p53/metabolism , X-linked Nuclear Protein/metabolismABSTRACT
PURPOSE: The aim of this study is to describe the symptoms and signs of central nervous system (CNS) tumors in a pediatric population and to assess the time interval between the onset of the disease and the time of the diagnosis. METHODS: A retrospective observational study was conducted at our Oncology Pediatric Unit between January 2000 and November 2011. We included 75 children between 5 months and 16 years (mean age of 7.8 ± 4.7 years), with male to female ratio of 3:2. The tumor localization was supratentorial in 51% of cases, and the most frequent histological type was low-grade astrocytoma (48%). RESULTS: Presenting symptoms were headache (31%), vomiting (31%), seizures (21%), and behavioral change (11%). The most common symptoms at diagnosis were headache (51%), vomiting (51%), visual difficulties (37%), seizures (24%), and behavioral change (21%). By the time of diagnosis, neurologic examination was altered in 68% of our patients. Vomiting (44%) and behavioral change (44%) were the most frequent symptoms in children under 4 years of age, headache (61%) and vomiting (54%) in children older than 4 years. The median interval between symptoms' onset and diagnosis was 4 weeks (range 0 to 314 weeks). A longer symptom interval was associated with younger age, infratentorial localization and low-grade tumors. The differences in symptom intervals between the different age, location, and grade groups were not statistically significant. Survival probability was influenced by tumor grade but not by diagnostic delay or age of the child. CONCLUSIONS: Headache and vomiting are the earliest and commonest symptoms in children with brain tumors. Visual symptoms and signs and behavioral change are often present. Abnormalities in neurological examination are reported in most of the children. Intracranial hypertension symptoms suggest the need for a neurological clinical examination and an ophthalmological assessment.
Subject(s)
Central Nervous System Neoplasms/diagnosis , Central Nervous System Neoplasms/mortality , Delayed Diagnosis/mortality , Adolescent , Central Nervous System Neoplasms/complications , Child , Child, Preschool , Female , Follow-Up Studies , Headache/diagnosis , Headache/etiology , Headache/mortality , Humans , Infant , Male , Retrospective Studies , Survival Rate/trends , Vomiting/diagnosis , Vomiting/etiology , Vomiting/mortalityABSTRACT
Antidense fine speckles 70 (anti-DFS70) antibodies, a peculiar antinuclear antibody (ANA) pattern by indirect immunofluorescence, is frequently observed in ANA-positive individuals with no evidence of systemic autoimmune rheumatic disease. They may be found in many different inflammatory conditions and in healthy individuals. We herein report a case of an 8-year-old girl presenting with generalized edema, hypertension, hepatomegaly, and a history of pharyngitis, which occurred 3 weeks earlier. Laboratory analysis revealed low complement C3 (6 mg/dL), microhematuria, and proteinuria. A diagnosis of acute glomerulonephritis was made. Anti-dsDNA, antiextractable nuclear antigens, and antineutrophil cytoplasmic antibodies were negative. However, a highly positive (1:640) ANA immunofluorescence test with dense fine speckles pattern was found. The presence of anti-DFS70 immunoglobulin G antibodies was confirmed by a specific immunoassay. In conclusion, the presence of isolated anti-DFS70 antibodies may be useful to exclude an autoimmune pathogenesis in those children with a positive ANA test and a clinical picture possibly attributable to systemic autoimmune rheumatic disease. This will avoid further unnecessary investigation with the potential for incorrect diagnosis and possibly harmful treatment.
