21-Hydroxylase deficiency: HLA genotypes and hormonal phenotypes in the families of 32 Italian patients.
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Biomedical subjects
Publications and source records attributed to G Beluffi.
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A case of transient stenosing ureteritis in a boy presenting with the clinical features of Henoch-Schoenlein purpura (diffuse articular swelling, petechiae, abdominal pain) complicated by macroscopic haematuria with blood clots is reported. On urography the right collecting system and the right ureter up to the distal lumbar portion were dilated owing to tight ureteral stenosis at that level. Above the stricture, numerous ring-like functional ureteral wall defects were detectable. On the left a stenosis was evident at the lumbo-sacral level with mild dilatation of the ureter. A small filling defect due to subephitelial haemorrhage was evident in the upper part of this ureter. Three months later, after prednisone therapy, the urography was normal on the right: residual mild stenosis was still evident on the left. Radiological findings in Henoch-Schoenlein purpura and the possible differential diagnosis of this condition are discussed.
An 11-year-old child with mental retardation and short stature was examined and found to be affected with some skeletal malformations. The clinical and radiological pattern of limb alterations was particularly suggestive of the features of Ruvalcaba syndrome. A complete examination confirmed the diagnosis and showed ocular involvement. To the best of our knowledge this is first published confirmation of Ruvalcaba syndrome.
20 cases of primary benign and malignant bone tumours in children were reported. The most common tumours were Ewing's sarcoma, aneurysmal bone cyst, benign osteoblastoma and osteoid osteoma. Some rare primary bone tumours in children (osteochondroma, chondroblastoma?, primary lymphoma of bone and neurofibromatosis with unusual cervical spinal changes) were also reported. The authors believe that radiographic findings together with clinical history and clinical examination may yield a high percentage of accurate diagnoses. Although microscopy is essential in the final diagnosis, the microscopic report should be viewed with caution.
Sixty consecutive patients, except for one 7-year-old patient, their ages varying from 1 day to 12 months received total intravenous hyperalimentation (TIH). It was possible to observe non-pathological catheter malpositions and, in 14 patients, other complications. The most serious complications observed included the following: thrombus and pericatheter thrombus calcification; superior vena cava thrombotic occlusion; hydrothorax; mediastinal effusion; generalized septic arthritis; venous transfixion with flooding of the soft tissues of the neck; vein wall lesions; collateral vertebral circulation; and a catheter tip blocked in vein. A brief comment is given on the use of this procedure and what may happen.
Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (MLD) proposed by Hagberg (1963) mainly because he did not deteriorate. Twelve years of follow up did not show any signs of decerebration or further intellectual decline; only speech was, and still is, absent. The reduced ARSA activity in leukocytes and fibroblasts of the father of the propositus suggests that he is heterozygote and that the ARSA deficiency of the propositus is inherited. The ARSA activity of the mother overlaps with the lowest control. The assumption that the mother is a carrier of different mutations could explain the discrepancy between the clinical and biochemical findings of the patient. This is a further family in which mutations other than the typical one can be postulated to explain variable clinical or biochemical pictures of MLD.
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A unique case of renovascular hypertension in an asymptomatic, microhematuric 61/2-year-old girl is presented. Abdominal ultrasonographic (UT) and computed tomographic (CT) studies, splenic and renal radionuclide evaluations revealed that a 'boomerang'-shaped spleen, anterior and medial to the left kidney, compressed and flattened its upper pole. Arteriography excluded stenosis of the renal arterial vessels. Renal vein renin ratio of 1.78 and contralateral/caval ratio of 1.13 eventually demonstrated that hypertension was caused by a lateralized renin hypersecretion from the compressed upper pole through left superior and central renal veins. Overactivity of the renin/angiotensin system was presumably due to ischemia of the renal parenchyma extrinsically compressed by the spleen.
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A case of synchronous multicentric osteosarcoma is reported in an 11-year-old boy. This very rare condition is characterized by simultaneous involvement of multiple skeletal sites, and the prognosis is generally poor.
Infantile hepatic hemangioendothelioma is a rare tumor of infancy, sometimes associated with cutaneous hemangiomatosis. It is clinically evident within the first six months after birth and can be life threatening because of heart failure, intraperitoneal hemorrhage or thrombocytopenia. In less severe forms spontaneous regression has been described. Current treatment may be surgical ligation of the hepatic artery, or pharmacological therapy with corticosteroids or radiotherapy. A 4-month infant is described, admitted with acute heart failure and huge hepatomegaly. Since a surgical approach was not possible and corticosteroid therapy failed to achieve the expected effect, radiotherapy was given with excellent results.
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A case of hypertrophic osteoarthropathy is described in an 8-year-old child with late-onset agammaglobulinemia, bronchiectasis and clubbing of the fingers and toes. The child presented with pain of recent onset in the legs, ankles, and knees and a diagnosis of hypertrophic osteoarthropathy was made on the basis of the radiologic findings. Therefore the differential diagnosis of bone and joint pain in agammaglobulinemic subjects must take into account hypertrophic osteoarthropathy.
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