[Kawasaki's syndrome. Major therapeutic advances provided by gammaglobulins].
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Biomedical subjects
Publications and source records attributed to B Labrune.
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In France, the combination of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness (DIDMOAD) is designated as Wolfram syndrome. An analysis of 14 personal cases and previous reports showed that the syndrome develops gradually and specified the most common order of occurrence of the various components as well as the other abnormalities (e.g., of the urinary tract) which may be found. Wolfram syndrome is an inherited condition (recessive autosomal transmission). The lack of association with HLA antigens seems to have been established (in the few cases where HLA typing was performed). The prognosis of Wolfram syndrome is grim, with the occurrence of each additional component adding to the severity of the disease.
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A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.
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In a six-year-old girl, suffering from an auto-immune haemolytic anaemia, routine radiological examination revealed the presence of a mediastinal tumour which was removed surgically and proved to be a multiple tissue polycystic dysembryoma. Haemolysis and signs of anti-erythrocyte auto-immunisation disappeared after the operation and total and stable cure obtained with a follow-up of 15 months. The target antigen of the anti-erythrocyte autoantibody could not be found within the tumour. However, the latter contained lymphoid tissue and a considerable quantity of antibody. Although indirect, these findings offer arguments in favour of the secretion of autoantibodies by the dysembryoma.
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This concerns a case of an infant born with goiter and hypothyroidism whose mother had taken potassium iodide during pregnancy in the form of a respiratory eupneic syrup. Laboratory tests revealed the etiology of the goiter by demonstrating that it concerned a transitory, acquired hormone production disturbance. The tests gave an indication of the course of the condition, leading to substitute hormone therapy being stopped after six weeks. The euthyroidism was then checked on two occastions.
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Report of a case of a neonatal hypoglycemia detected at the 11th hour of life, secondary to a Langherans polyadenomatosis in a girl with an hemihypertrophy. Pre- and post-operative tests are reported. In case of neonatal hypoglycemia, the criteria leading to the diagnosis of hyperinsulinism, i.e. the only neonatal hypoglycemia with surgical treatment are reviewed. Except in the case of adenoma, the pancreatectomy should be performed subtotally. The best time for surgery is as soon as the 3rd week, in order to preserve the cerebral development.
Two new cases of Proteus syndrome are reported. This congenital syndrome, first described in 1983, comprises gigantism of extremities, body hemihypertrophy, pigmented nevi and multiple tumors (subcutaneous, lipomas, hamartomas). This syndrome belongs to the same group as Recklinghausen disease, Maffucci or Klippel-Trenaunay syndromes. The prognosis is not well known but mostly depends on functional and psychologic consequences of important deformations.