Biomedical subjects
Publications and source records attributed to S Gosseye.
Two years after an orthotopic liver transplantation, a multifocal hepatic tumor with lymphonodular metastases, identified as a fibrosarcoma, developed in a 4-year-old girl being treated with cyclosporine. On a needle biopsy sample, genetic typing of the HLA-DR group revealed that tumoral cells were from the recipient.
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A case of malignant choriocarcinoma produced a major feto-maternal transfusion at term. This was proven using routine Kleihauer's test. The newborn died on the 5th day of life from haemorrhagic shock. The diagnosis of choriocarcinoma was made when acute post-partum haemorrhage occurred together with a high level of Beta HCG. The patient was cured by the use of Methotrexate followed by four courses of tri-chemotherapy (Methotrexate, Actinomycin and Cyclophosphamide). After treatment for secondary infertility, the patient had two normal pregnancies. This case makes possible to point out again the possible association of a positive Kleihauer test with choriocarcinoma. It also points out strongly the value of carrying out Beta HCG testing when bleeding occurs post-partum. Early diagnosis improves the maternal prognosis and allows conservative treatment to be carried out in cases of choriocarcinoma in young women.
10 children who died suddenly during liver transplantation were found at necropsy to have extensive obstruction of small lung vessels by platelet aggregates. In 7 of these patients pulmonary artery pressure changes before death were consistent with acute obstruction of the pulmonary vascular bed. Platelet aggregates were not strikingly increased in blood vessels in other tissues. No single obvious cause for these unusual histological findings could be identified, although the presence of intravascular catheters, perioperative blood and platelet concentrate transfusions, and cellular debris from the liver forced into the circulation during surgery might predispose to platelet aggregation.
An 8-month-old boy and a 7-month-old girl presented with an acute, Coombs-positive auto-immune haemolytic anaemia and severe hepatitis. The clinical manifestations were pallor, jaundice and hepatomegaly. The liver histology revealed diffuse giant cell transformation and extensive necrosis with central-portal bridging. Combined immunosuppressive regimen with steroids and azathioprine led to prolonged clinical and biological remission with a respective 2 years and 7 months follow up. The girl, however, after 7 months developed a progressive encephalopathy of unknown aetiology, while liver and haematological disease were still under control. She died subsequently from severe recurrent seizures. We conclude that acute Coombs-positive giant cell hepatitis of infancy can be improved by sustained immunosuppressive therapy.
A case of infantile myofibromatosis associated with oesophageal atresia, annular pancreas, additional sacral vertebra and hypoplatic right kidney in a male neonate is reported. The possibility of associated malformations in this rare disease is outlined.
We describe an infant with renal and liver disease who died at the age of 10 months from chronic renal failure. Hepatosplenomegaly was present along with biochemical findings of cholestasis and cytolysis. The diagnosis of tubulointerstitial nephropathy with cortical microcysts associated with hepatic fibrosis was based upon laboratory, radiological, and histological data. This rarely described disorder is characterized by an early clinical onset and unfavourable progression to end-stage renal failure before the age of 2.
A 4-year-old boy and a 14-year-old girl referred for a cholestatic syndrome were found to have a unifocal stricture of the extrahepatic bile duct. Both radiological (endoscopic-retrograde-choledocopancreatography) and histological findings were suggestive of primary sclerosing cholangitis. There was no past history of chronic inflammatory bowel disease nor any other disorder. Serum autoimmune markers were negative. Complete remission was observed after surgical drainage, and both patients remained symptom-free after a follow-up of 12 months and 8 years, respectively. Such unifocal form of the disease may have a better prognosis than the plurifocal disease. The absence of associated disorders and autoimmunity may also be an indicator of better prognosis in these patients.
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Three cases of congenital fibrosarcoma are reported. The use of preoperative chemotherapy, a VAC regimen, allowed conservative surgery in two of them. The three children are well, with no evidence of disease and without sequelae after completion of postoperative chemotherapy.
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The third and fourth branchial fistulas are exceptionally rare; both originate from the pyriform sinus, extend through the inferior constrictor of the pharynx and cross either the upper or the lower aspect of the superior laryngeal nerve, downwards and frontwards. Like the more common first and 2nd branchial fistulas, a cervical abscess is the usual consequence of these fistulas which should be treated by radical excision.
A 4 1/2-year-old boy underwent subtotal esophageal substitution by left colon for caustic soda stricture. The transposed colon had to be removed for perforation 9 days later, and pathological examination showed several tiny perforations in an area 1.8 cm in diameter where the colonic wall was thin and devoid of muscularis. Arguments are presented to show that this absence of muscle coat is congenital. The perforations are thought to be the result of minimal ischemia in a colonic wall weakened by the defect.
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Autopsy material and clinical information were analyzed in 25 cases of untreated or unsuccessfully treated severe combined immunodeficiency disease and one case successfully treated by bone marrow grafting. Two cases were adenosine deaminase deficient and one was nucleoside phosphorylase deficient. The histological appearance of the thymus fell into four clearly recognizable patterns: simple dysplasia, dysplasia with corticomedullary differentiation, dysplasia with pseudoglandular appearance, and atrophic pattern. Three cases lacked lymph nodes and belonged to the category of thymic dysplasia with pseudoglandular appearance. From the data, the following conclusions can be made: (i) The thymic atrophic pattern is a phase in a dynamic process of which the end result is simple dysplasia or dysplasia with corticomedullary differentiation. (ii) The pseudoglandular pattern represents a disease process of early intrauterine onset. (iii) At least a proportion of the cases represent a T-cell defect rather than a lymphoid stem-cell defect. (iv) The lymphoid germinal centers are not the source of plasma cells. (v) The graft-versus-host reaction probably causes lymphoid cells depletion in lymph nodes and spleen.
The authors report a case of Libman-Sacks endocarditis of the posterior mitral leaflet in a child treated for disseminated lupus erythematosus for 8 years. Mitral valve replacement was performed. Libman-Sacks vegetations are hardly ever recognised in vivo and have never been previously reported in a child. The incidence of this cardiac complication of lupus erythematosus is probably higher than indicated in the literature. Attentive cardiac examination and systematic echocardiography should be part of routine follow-up of patients with disseminated lupus erythematosus.
Two newborn infants who suffered severe intra-uterine anoxia a few weeks before birth are described. Both died shortly after being born spontaneously and slightly prematurely. In one case the mother had attempted suicide by inhaling butane. The infant's kidneys were hypoplastic and resembled those seen in renal dysplasia, and the brain showed a severe encephalomalacia which would probably have developed into hydranencephaly. The other case was a twin who survived the intra-uterine death of her co-twin: she had hypoplastic kidneys similar to those in the first case, and a hypoplastic spleen. (The brain was not examined.) It is thought that intra-uterine anoxia may produce lesions in fetal organs which appear at birth as congenital developmental malformations. This mechanism is thought to account in particular for some cases of renal dysplasia and for hydranencephaly.
We found at postmortem examination the association of bilateral renal agenesis and of apparently complete Di George syndrome in an infant whose mother was diabetic. Vertebral abnormalities and hallux duplication were present as well. There is a correlation between maternal diabetes and the bilateral renal agenesis-caudal dysplasia complex on one hand, and maternal diabetes and cardiac malformations on the other hand. Moreover, it has been suggested that the absence of thymus and parathyroids in Di George syndrome is causally linked to the cardiac malformation. Therefore we suggest that the association in our case is not coincidental; both sets of malformations may be due to the maternal diabetes.