Biomedical subjects
Publications and source records attributed to P Parent.
An experience of three centers of genetic counselling (West France). The authors attempts to explain why in 9 cases the pregnancy was not terminated.
Triose phosphate isomerase catalyses dihydroxyacetone phosphate to glyceraldehyde 3 phosphate isomerism. Its deficiency associates hemolytic anemia, neurologic abnormalities, relapsing infections and results in encephalopathy or early death. On the occasion of 2 new cases, we report one of the most important familial surveys as 93 subjects were studied, confirming the autosomal recessive transmission of the deficiency and the first results of antenatal diagnosis which could be performed in one of the families.
The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.
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Brittany is celtic, like Ireland and Wales where the incidence of neural tube defects is raised. We searched the hospital files in Brittany for all live and still births, and terminations of pregnancy after prenatal diagnosis for the years 1975-1984. 225 cases of spina bifida and 210 cases of anencephaly were identified; giving an incidence of 0.60 per 1000 births for spina bifida and 0.56 per 1000 births for anencephaly. No seasonality was found for both malformations. Analysis of the sex ratio for anencephaly indicated significantly higher proportion of females to males. Maternal age in the affected group was similar to the normal population. Casual heterogeneity among neural tube defects patients was presumed because 14% of our cases had other congenital anomalies.
About a familial observation of PK deficiency, the authors emphasize the important clinical and biochemical heterogeneity. Interest of isotopic explorations in the therapeutic decision of splenectomy.
Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.
We have seen two cases of diprosopy associated with anencephaly in Brittany between 1975 and 1984. Diprosopy is a partial or total duplication of the face. It consists of the phenomenon of late division in the embryo of the cephalic portion of the neural plate between the 16th and the 18th days. This gives rise to an incomplete type of monozygotic twinning or a conjoint twin. There are several different forms of the organs that are duplicated. We have seen a case of diprosopos distomos dirhinos diophthalmos and a case of disprosopos distomos dirhinos triophthalmos. These two cases were associated with anencephaly, the second also having a spina bifida and a diaphragmatic hernia. One can explain the incidence of anencephalies in cases of diprosopies by the desturbance created by the latter on the embryological events that succeed it. The delay in nerve formation makes it impossible for the neural tube to close completely, and this is why sometimes the anencephaly is associated with spina bifida. In more general terms one can postulate that all conjoint twins that are, of course, monozygotic and monochorial can interfere with early enbryological development and increase the risks of failure of the neural tube to close.
We report a clinical analysis of 327 cases of Spina Bifida and 102 cases of Anencephaly in Brittany. Maternal age, parity, birth weight are not different from random population. Male rate is 0.40 for Anencephaly and 0.50 for Spina Bifida. The study of pregnancies shows an increased frequency of hydramnios during anencephaly pregnancies (0.34) and high rate of abnormalities during the pregnancy of Spina Bifida (0.34) or Anencephaly (0.86). Four mothers of Spina Bifida were taking valproic acid. Thirty children (0.07) had other malformations.
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Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.
Structure-activity studies on rabbit aorta of angiotensin II analogues have suggested a possible relationship between the electronegativity of the aromatic side chain in position 4 (Tyr) and the observed affinity. In order to test this hypothesis, several other analogues modified in position 4 have been prepared, and all available analogues were tested in three bioassays: in vitro on rabbit aorta strip, in vivo on the rat blood pressure, and the binding assay on beef adrenocortical membranes. In all three bioassays the postulated correlation has confirmed that angiotensin II affinity depends inversely on the electronegativity of the aromatic side chain in position 4.
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We describe a new case with a supra-inguinal ectopic scrotum. Of 12 cases reported in the literature with this anomaly, 8 have had significant ipsilateral upper urinary tract anomalies, whereas non of the reported patients with infra-inguinal ectopic scrotum has had renal abnormalities. Our patient presents also a vas deferens agenesis. The pathogenis of this condition remains still imprecise.
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Neonates with severe cerebral damage are usually given phenobarbital. The authors study the various means of administration and the influence of term and concomitant mannitol administration on the plasma levels of the drug. They recommend the intravenous administration of a load dose and show that phenobarbital blood levels are significantly less in prematures or in children who have been given mannitol.
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UNLABELLED: Fetal hydrocephalus due to aqueductal stenosis is classified into two main groups: congenital (X-linked, atresia, septa and forking) and acquired (post-infectious or post-hemorrhagic, gliosis and tumors). MATERIAL AND METHODS: We report three fetal cases presenting with severe hydrocephalus, two of which being apparently sporadic, and the third possibly inherited. On macroscopic examination, no associated malformations were identified, either craniofacial dysmorphy, or visceral abnormalities. Neuropathological study revealed massive hydrocephalus caused by narrowing of the Aqueduct of Sylvius. Histological examination evidenced a nodular, well-demarcated mass producing into the aqueductal lumen, and containing numerous immature proliferating glioneuronal cells. Immunohistochemical analyses did not suggest a developmental abnormality of the subcommissural organ but rather a hamartomatous malformative process. RESULTS: Hamartoma of the posterior fossa has been rarely reported. Post-natal cases have been described in the cerebello-pontine angle or in the quadrigeminal plate, and have always been diagnosed as pilocytic or low-grade astrocytomas. In our cases, the lesions could be related to so-called pencil glioma, sometimes associated with type 1 neurofibromatosis and, to our knowledge, have never been described prior to birth. The occurrence during fetal life and the progressive maturation of the nodules are more likely in favor of a hamartomatous process. CONCLUSION: Even though they could sporadically occur, an accurate genetic counseling should be required in order to ensure that there is no familial history of Recklinghausen disease, and to provide a more precise evaluation of recurrence risk.