Intestinal enteropeptidase deficiency associated with exocrine pancreatic insufficiency.
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Biomedical subjects
Publications and source records attributed to M Hermier.
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We report the case of a 3 week-old black infant who presented with hemolytic anemia due to an incompatibility with his mother in the U blood group system. Jaundice, present on the 3rd day of life, was considered as physiologic jaundice. A positive Coombs test led to the discovery in the mother's serum of an immune antibody against the U public antigen.
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Pathologic diagnosis of malignant lymphoma, Burkitt type, was made in a 12 year old child with an abdominal tumour. The association of this lymphoma with Epstein-Barr virus was done based on the detection of Epstein-Barr viral markers within the tumour cells, as well as on the patient's serology. To our knowledge, it is the first time that the association between Burkitt's lymphoma and Epstein-Barr virus, which is frequent in Africa, is reported in a Caucasian French.
The case reported here is that of a girl with presumably viral non A, non B, acute hepatitis with a very unusual course. Fulminant hepatitis with submassive and bridging hepatic necrosis and a 17-day coma began during the 7th week of evolution. Prolonged chronic active hepatitis followed. Treatment was initiated 6 months after the beginning of the affection and was maintained for more than 2 years, with an apparent cure persisting after follow-up period of 6 months; fibrous scars were the only abnormalities demonstrable on histologic examination of liver biopsy. It is possible that such type of fulminant hepatitis with unusual course will become more frequent, as survival of the initial acute episode increase.
Two children were followed for severe congenital tubulopathies: a boy presented an excessive sodium, calcium and water excretion; a girl had cystinosis and a De Toni-Debré-Fanconi syndrome. These renal defects were both associated with increased levels of plasma renin activity and aldosterone, and excessive urinary PGE1 production. They had been unresponsive to therapeutic attempts. Only indomethacin treatment was successful in reversing the biochemical abnormalities and improving the growth pattern.
A male infant with severe combined immunodeficiency but normal adenosine deaminase activity for whom no suitable bone marrow donor was available was given two separate grafts of both hepatic and thymic cells, the cells for each graft being taken from the same fetus aged 13 and 10 weeks respectively. Cell mediated and partial humoral immunity was restored 330 and 400 days respectively after the second transplant. No graft-versus-host reaction was observed and both red blood cell and lymphoid chimaerism could be demonstrated. The child was kept in strict bacterial isolation from the 3rd to the 537th day of life. Thirty months after the graft, the infant is in good health but has a defect of neutrophil chemotaxis and phagocytosis which requires prophylactic benzathine penicillin in addition to gammaglobulins. Fetal tissue transplantation may provide an alternative treatment for patients with severe combined immunodeficiency who do not have a histocompatible donor.
A boy with a chromosomal mosaic 45 X/46 X dic Yq is described. The unusual features were a Turner phenotype with normal genitalia and he was in puberty. It is apparent that it is not possible to blame alterations in the Y chromosome when this mosaic is associated with ambiguous genitalia or the stigmata of Turner's syndrome.
The association of hypercalciuria, salt losing renal disease, and a defect in urine concentrating ability with high renin and aldosterone levels is described in two brothers. One child had marked nephrocalcinosis by the age of 3 and the other severe growth retardation. In one child all the abnormalities were abolished with indomethacin which was responsible for a marked decrease in urinary. The data and the family study suggest that this condition is a proximal tubular disorder with atuosomal recessive inheritance.
11 blood and seric group markers were studied in a case of 46,XX,del(8)(qter yields p22 :) in order to contribute to the exclusion map. MNSs and Jk are informative and could be excluded from the region. The proband is also definitly heterozygous for immunoglobulin Gm groups which were tentatively assigned to the short arm of chromosome 8 or 12.
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A girl who had all the clinical laboratory features of Lowe's syndrome is described. In the literature there are at least 5 other females recorded. They could arise by the preferential inactivation of the normal chromosome (lyon's hypothesis) or alternatively an autosomal dominant mode of inheritance with weak penetrance could be postulated.
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The authors report a case of diffuse scleroderma in a 15 months old infant. Dermatologic (clinical and pathological) findings are quite typical of the disease. On the other hand, in this case some particularities were observed: the age of the infant (second published case beginning before the age of two); the presence of a durable eosinophilia, the absence of visceral lesions and of biological abnormaliteis (of auto-immune nature specially), the evolution towards athrepsica and death within one year. Thus, because of these particularities, the diagnosis of scleroderma remains questionable and the diagnosis of progeria has been considered. The affection appeared in the course of a hepatitis leaving a hepatic fibrosis without inflammatory signs; no conclusion can be drawn about the relations between the hepatic affection and the fatal dermatologic disease.