Biomedical subjects
Publications and source records attributed to J B Palcoux.
The authors report a case of homocystinuria diagnosed in a 2 year-old boy presenting with psychomotor retardation and with widespread cerebral vascular thromboses, unusually severe at that age. The disease was of the pyridoxin-resistant type, for which use of remethylation activators led to a good biological result.
Bilateral renal hypoplasia with oligomeganephronia, associated with bilateral tapetoretinal degeneration was observed in a child; this association has been reported only once before. Light, ultrastructural and immunofluorescent microscopic studies of the renal tissue were performed. The glomeruli were few and hypertrophic, with numerous mesangial cells, mesangial deposits, focal glomerular sclerosis and prominent thickened basement membrane. Two types of tubular changes were observed: focal necrosis of proximal tubules and focal atrophy of tubules surrounded by a thickened basement membrane. Mild fibrosis with few lymphocytes could be observed in the interstitium. A congenital reduction in the number of nephrons, related to a yet unknown pathological process may explain these morphological changes in part.
A case of olfactory neuroblastoma in a 9 month-old girl is reported. Blindness and purulent meningitis were the first symptoms. Radiological examinations including CT scan revealed a sphenoidal tumor with penetration of the meninges. Surgery revealed an ethmoido-sphenoidal tumor mass extending into the pituitary fossea which consisted of malignant cells with the histological aspect of esthesioneuroblastoma. The rarity of this tumor in early childhood and its clinical polymorphism are emphasized.
Two families with hereditary renal adysplasia are reported. Transmission is dominant autosomal. There were no genital abnormalities.
A 9 year old girl with symptoms of the Sjögren syndrome showed interstitial lymphocytic infiltrate on renal biopsy. Two years later she had clinical and biological evidence of systemic lupus erythematosus, associated with a typical glomerulonephritis.
In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.
A case of Yersinia pseudo-tuberculosis arthritis is reported in a 18 month-old girl. The authors emphasize the rarity of such cases, the value of testing for Yersinia antibodies in cases with arthritis of unknown origin and the uncertain long-term outcome.
The authors report on the case of a 12 year old girl, presenting with severe systemic lupus erythematosus. Skin, joints and kidney were involved. The treatment associated steroids, plasma exchanges and cyclophosphamide. Remission has been obtained and remains one year later.
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Sixty-five echocardiograms were performed on 20 children with chronic renal failure and were compared with 101 normal controls. The main cardiac abnormalities were dilation of left ventricle and left atrium, left ventricular wall and septum hypertrophy, increase of cardiac output, and rarely decrease of contractility. Anemia, arteriovenous fistula, arterial hypertension and severe renal failure (patients treated by maintenance dialysis) were factors associated with these abnormalities. The authors emphasize the value of echocardiograms in the follow up of children with chronic renal failure.
The authors report the association in a child of monosomy 4p- and tyrosinosis. They discuss the localization of the para-hydroxyphenylpyruvate oxidase locus on the short arm of chromosome 4. They suggest the study of para-hydroxyphenylpyruvate oxidase activity in each child with monosomy 4p-.
One hundred and one echocardiograms were performed in children 8 days to 15 years old. The values measured were : end-diastolic and end-systolic left ventricular diameters, aortic root diameter, left atrial diameter, end-diastolic septal and posterior wall thickness, mitral valve excursion. There is a good correlation of these values with the square root surface area. The indices of left ventricular performance are : mean velocity of circumferential fiber shortening (correlated with heart rate), ejection fraction and shortening fraction. These indices are not correlated with body surface area. These data can be used in the echocardiographic investigation of infants or children with heart diseases.
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The authors report the case, in the same family, of two children with the Meckel's syndrome, of two mis-arriages (one foetus with anencephalia, the other one with occipital meningocele), and of two still-born children (one with anencephalia, the other one with occipital meningocele). The genetic problems raised by this unusual genealogy are discussed.
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A 4-month old child presented with facial malformations and severe hypernatremia. Hypernatremia was secondary to diabetes insipidus due to a disorder of ADH secretion, associated with cerebral malformations. Clofibrate treatment was ineffective. However, after the patient was treated by a low osmotic residue diet, an increased water-intake and hydrochlorothiazide, natremia became normal and growth resumed.
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Explore the source record for details and available documents.