A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency.
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Biomedical subjects
Publications and source records attributed to M Vegni.
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A case is reported of ganglioneuroblastoma in a 5-year-old boy, who had urticaria syndrome by physical agents (water, light, cold) in the last 2 years, associated with an apparent splenomegaly. A sonography and a CT scan showed a large cystic mass with calcification near the left kidney. After surgery, it was possible to diagnose left adrenal ganglioneuroblastoma (Evans's first stage). Complete regression of urticaria syndrome was obtained after mass removal.
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Circulating IgA-antigliadin antibodies were detected with enzyme linked immunosorbent assay (ELISA) in four of 121 patients (3%) who had IgA mesangial nephropathy and 14 of 17 children (82%) who had untreated coeliac disease. No positive cases were present in the 54 healthy subjects of the control group. Three patients who had IgA nephropathy and IgA-antigliadin antibodies underwent jejunal biopsy, and two showed mucosal atrophy. In these two patients urinary abnormalities, together with the IgA-antigliadin antibodies, disappeared completely after three months and five months, respectively, of following a gluten free diet. Circulating IgA immune complexes were found in most patients who had coeliac disease and Berger's disease associated with IgA-antigliadin antibodies, suggesting overactivity of the B cells producing IgA in both conditions. By contrast, a circulating IgA rheumatoid factor was detectable in three of the four patients who had IgA nephropathy and asymptomatic coeliac disease but was always absent in children who had coeliac disease but did not show signs of renal disease. These results suggest that a more complex abnormality in the IgA immune response is necessary for renal disease to become manifest in patients who have gluten enteropathy.
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Kawasaky's disease is a multisystem widespread vasculitis. Besides the mucocutaneous patterns, symptoms related to various organs have been observed in the medical literature. Lethargy, irritability, meningism and cranial nerves paralysis occur in the acute phase of central nervous system involvement. The A.A. report a rare cerebellar syndrome caused by vasculitis in a seven years old girl's cerebellum. Surveillance of tardive complications must be undertaken in patients affected by Kawasaky's disease.
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