[Hyperphenylalaninemia induced by trimethoprim-sulfamethoxazole in an infant heterozygous for phenylketonuria].
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Biomedical subjects
Publications and source records attributed to D Leroy.
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A young girl aged 13 years was hospitalized for metaphyseal fractures of both knees, and was found to have idiopathic juvenile osteoporosis which followed a favourable course over a period of one year. The authors recall the difficulties encountered in diagnosing this rare affection as no specific biological changes have been demonstrated. The criteria used are: the age of the patient, the disease usually becoming evident in the prepuberty period, the contrast between the very severe osteoporosis noted on radiological examination and the perfect general condtion of the patient, the negative biological tests results, and finally, the spontaneous repair of the osteoporosis in one to four years.
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A case of relapsing polychondritis was successfully treated with a daily dose of 120 mg of diaminodiphenylsulfone. Clinical signs (fever, fatigue, conjunctivitis, chondritis and hoarseness of the voice) rapidly regressed and remain so 8 months later, despite a decrease in the dose. Biological parameters returned to normal (sedimentation rate, plasma perchlorosoluble seromucoids, urinary acid mucopolysaccharides), and histological and ultrastructural lesions of the auricular cartilage disappeared. The pathogenic role of a herpes infection at the beginning of the disease is discussed.
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A deficiency in cellular immunity was demonstrated in a patient suffering from polycythaemia rubra vera in the myelofibrosis stage. Intradermal reactions to classical antigens (candidine, trichophytine, streptokinase, streptodornase, tuberculine) were negative, as was the di-nitrofluorobenzene test. However, the T lymphocyte count was normal. There was no disturbance in humoral immunity. Phagocytosis was normal but leucocyte migration, studied in vitro, was nil. The possibility of an intrinsic abnormality in the polynuclear neutrophil is evoked.
A case is described of livedo reticularis and nodules, resembling polyarteritis nodosa but shown to be due to emboli of cholesterol crystals.
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Fifty cases from the literature and one personal case of cutaneous cholesterol embioli are reviewed. These emboli come from abdominal atheromatous aotitis, sometimes complicated by aneurysm. The cholesterol micro-embolism is sometices induced by vascular surgery or arterial opacification. Male prevalence (47 cases) is evident. Alone or with visceral involvement, cutaneous lesions frequently simulate periarteritis nodosa: circumscribed to abdomen, thighs, legs, dorsum of the feet, the livedo reticularis is the most stricking feature associated or not with cutaneous nodes, purple toes, ulcers and gangrene. Histopathologic study is required for diagnosis: showing "negative" pictures of cholesterol cristals in an obliterating arteriolitis. Nevertheless special intetest is focused on a macrophagic granuloma centered in the vessel.
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Three nurslings are described with diffuse mast cell disease characterized by blisters on widespread skin involvement. The skin changes may be associated with important generalized flares in relation with degranulating mast cell. The mastocytosis infiltrats seems localized to the skin. The skin lesions heal or regress slowly as in other mast cell disorders but long-term evolution remains very impredictable.
The case presented is that of a pneumonia due to cholesterol in a young girl of 13 years old. The clinical picture was that of severe progressive pulmonary fibrosis. On histology, a foreign body reaction around cholesterol crystals was found. The history enabled confirmation of the endogenous origin of this fatty infiltration.