Biomedical subjects
Publications and source records attributed to M Roussey.
TAR syndrome is usually an autosomal recessive disease; we report a family where the father of the propositus presented malformations of the feet, and review the known cases involving several generations. The authors of these cases concluded that the TAR syndrome is probably genetically heterogeneous.
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A 16 month-old girl presented with congenital common bile duct stenosis revealed by vague faintness. Percutaneous transhepatic cholangiography and surgical biliary opacification showed an abnormal junction of the pancreatico biliary ductal systems with an abnormally long common channel. These anatomic findings seem to be similar to those seen in congenital choledocal cysts and biliary tract dilatation.
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Pelizaeus-Merzbacher's disease is a progressive encephalopathy with demyelination of the cerebral white matter. The diagnosis can not be made on clinical or biological grounds: pathological investigation is necessary to confirm tigroid demyelination. CT scanning failed to visualize this type of anomaly but detection is now possible with the advent of magnetic resonance imaging (MRI). The authors studied the case of a boy who, at the age of 8 presented with symptoms characteristic of the disease: rotatory nystagmus, progressive encephalopathy, and inherited X-linked recessive traits. Magnetic resonance imaging revealed a high signal in the supra- tentorial white matter and the usual contrast was inverted. The authors believe that MRI can make an important contribution to the diagnosis of the disease.
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A diencephalic astrocytoma was diagnosed by ultrasonography in a 5 months old girl with nystagmus and emaciation. A 27 months follow-up with ultrasonography, computed tomography and magnetic resonance imaging, showed an initial improvement after irradiation and afterwards the development of complications with ventricular dilatation and parenchymal calcifications.
Prenatal diagnosis of cystic fibrosis is today possible by chemical study of amniotic fluid during the 18th week of pregnancy. We have, among 90 families seen for genetic counseling between 1972 and 1985, estimated the risk of recurrence; it was of 0.25 in 55 cases; between 0.05 and 0.16 in 30 cases, greater than 0.01 in 16 cases. Before suggesting a prenatal diagnosis, it is necessary to take as basis the risk of abortion and the reliability of the method. The first risk is well known, less 0.005, in these young women; reliability can be estimated: almost 0.01 of false wrong negative, and this number is probably overvalued if all technical conditions are perfect. In front of these risks, it seems possible to propose a prenatal diagnosis from a risk of 0.01, the families being informed of all risks. We think so to hearten some families and to make possible for them to live quietly these pregnancies, probably non undertaken without our help.
The authors have discovered that in all the epidemiological surveys, 80 to 90% of SIDS happen when the infant is lying prone and at the age of 2 or 3 months when the infant is able to turn his head. Comparing the position of infants who died of SIDS with that generally pertaining to infants in the region, they found a good correlation between SIDS and the prone position. It seems that SIDS is a multifactorial syndrome in which asphyxia has been abandoned too readily in favour of other causes which have not been proven. They would like similar surveys to be carried out. Pending the results of these studies and taking into account the other disadvantages of the prone position, they recommend a return to laying the baby on his side in a traditional fashion.
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Among clinical manifestations of the battered child syndrome, ophthalmic manifestations play a prominent role in the recognition of this syndrome. From personal cases, the authors describe different ocular findings, specially intraocular hemorrhages with the important risk of sequelae. They show the role of the ophthalmologist among several situations. As the ophthalmologist may be the first to examine these traumatized infants his prompt recognition is important to take all necessary steps.
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The authors have studied the different situations that prompt a request for genetic counseling if different members of the same family suffer from cancer. Six possibilities are considered: the cancer concerned is a genetic disease per se (e.g. retinoblastoma, thyroid cancer with amyloid stroma); the genetic disease is often complicated with cancer (e.g. intestinal polyposis); the genetic disease is occasionally complicated with cancer (e.g. neurofibromatosis); cancer is part and parcel of the genetic disease (e.g. chromosomal abnormalities); in addition, there are two special situations: "cancer-prone families" and families who request genetic counseling after one single case (e.g. cancer of leukaemia in a child).
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Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Authors examined 80 pairs of parents with affected children with spina-bifida. They compared the incidence of spina-bifida occulta in parents and in 211 controls. The conclusion is: there is no increased incidence of spina-bifida occulta in parents of spina-bifida.