[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)].
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Biomedical subjects
Publications and source records attributed to J Leroy.
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A case of endocardial tuberculoma of the left atrium in a 20-year-old woman is presented. Ulceration of the tuberculoma at the aortic anulus led to disruption of the aortic valvular attachment and induced severe aortic insufficiency. Replacement of the aortic valve and administration of antituberculous medication permitted an uneventful recovery. This is probably the first case of tuberculous aortic insufficiency diagnosed in a living patient and surgically treated with the use of extracorporeal bypass.
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A follow up of pulmonary function has been performed on three patients having recovered from Mendelson's syndrome (between 1 and 70 months). In the 3 patients a syndrome of diffuse interstitial pulmonary fibrosis was observed. These perturbations disappeared relatively quickly. They were compatible with pulmonary oedema due to the disappearance of surfactant, consecutive to acid inhalation.
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A 36 year-old woman was given Ergotamine Tartrate 4.5 mg p.d. during seven days, after an abortion (a still birth). Subsequently she developed a generalised arterial spasm of the limbs producing a feet necrosis. A transmetatarsal amputation was performed. This observation and 63 others cases in the litterature call attention to the potential dangers of the ergot derivatives (ergotamine tartrate), even at normally accepted therapeutic doses. Arteriolar thrombosis and subsequent tissular gangrene can be presented by early administration of heparin, dextran infusions and, possibles, hyperbaric oxygen. Among the vasodilatation drugs, only sodium nitroprussiate seems to be effective.
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The authors review the literature on the effects of the nervous system on the kidney in 3 stages: 1) Historical stage when the role of the renal nerve supply was overetimated by Claude Bernard. 2) Intermediate stage between the two wars with a clinical description of uremic encephalits or acute delirium. From the experimental point of view was demonstrated the inessential character of the nerve supply for the survival of the kidney. 3) Modern stage: from the clinical point of view one may distinguish functional nephropathies including those of nervous origin. The latter are due to metabolic or vascular mechanisms which are intricated to various degrees. Problems of regulation are raised in man by certain findings.
A 14-year-old girl with a unique type of progressive spondyloepiphyseal dysplasia, corneal clouding, and no evidence of neurological abnormality, was found to have a remarkable deficiency of acid beta-galactosidase activity in cultured skin fibroblasts and in leucocyte preparations. In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase.