Biomedical subjects
A Fourmaintraux
Publications and source records attributed to A Fourmaintraux.
[Type anti-SGPG antiglycolipid antibodies and Miller Fisher syndrome].
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[Cytomegalovirus infection and pregnancy].
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[Deep capillary hemangioma of orbit in an infant].
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[Meckel's diverticulum and acute intestinal intussusception in older children].
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[Current perinatal and infant mortality at Reunion Island].
UNLABELLED: The mortality rate is an indicator of public health related to social, economic and sanitary conditions. In 1990, the early neonatal and infant mortality rates published by the National Institute of Statistics and Economic Studies (INSEE) for Reunion Island were surprisingly lower than those published for continental France, in spite of a less favourable socio-economic status. Therefore, we considered is useful to try to re-establish the true rates by means of a retrospective survey based first on the vitality and maturité criteria of the French Register Office, then on those of the World Health Organisation (WHO). POPULATION AND METHODS: Among all the childbirths registered in Reunion Island between January 1st and December 31st 1990, we collected the cases of stillbirths and neonatal deaths that occurred in hospital or at home. The vitality and maturity criteria were defined according to all clinical and para-clinical records available. RESULTS: After an adjustment of the vitality criteria based on the medical files, the use of the French Register Office maturity criteria resulted in the following date: stillbirth rate 8.69% (versus 9.89), early neonatal mortality rate 3.88% (versus 2.65%), and infant mortality rate 8.12% (versus 6.7%). Then, using the WHO maturity criteria, we found the following rates: stillbirth 12.7%, early neonatal mortality 5.1%, perinatal mortality 17.74%, infant mortality 9.34%. CONCLUSION: The non-observance of vitality criteria leads to a decrease of early neonatal mortality rate, and consequently of infant mortality rate. On the other hand, the WHO maturity criteria are either ignored or debated. Those two facts contribute to the publication of wrong still birth, early neonatal mortality and infant mortality rates. Therefore, the fetal-infant mortality rate seems to be more reliable than the infant mortality rate.
[Rubella and pregnancy: fetal infection without embryonal or fetal pathology. A case report].
A case of foetal infection with rubella virus during the 12th week of pregnancy, with an alpha-interferon level under 2IU after 24 weeks pregnancy was followed by normal birth. Clinical and radiological examinations at birth were unable to detect any signs of congenital rubella. When the infant was 8 months old, neurological examinations were normal and there was no sign of deafness. Foetal infection does not [correction of no] necessarily mean foetal disease. Medical abortion is only indicated in case of maternal rubella occurring before 11 weeks of pregnancy. After this date, the fear of deafness can be mitigated by the lack of viral replication proven by a low alpha interferon level.
[Persistent müllerian duct syndrome (males with uterus): a pediatric problem].
BACKGROUND: The persistent müllerian duct syndrome (PMDS) is characterized by the persistence of the uterus and Fallopian tubes in otherwise normally virilized boys. Its diagnosis is usually made during a surgical procedure for inguinal hernia or cryptorchidism. We report six recent cases of PMDS, in which we have studied anti-Müllerian hormone (AMH) serum levels. CASE REPORTS AND METHODS: Six boys including three brothers were operated on for cryptorchidism or inguinal hernia. Surgical exploration showed persistence of the uterus and Fallopian tubes in patients having normal 46, XY karyotype and male gonads. The AMH serum levels were measured by Elisa and the AMH gene by single strand conformation polymorphism of PCR products. RESULTS: The three brothers showed a mutation in the AMH gene which leads to the replacement of leucine by proline at position 70 and to a defect in AMH production. In two other patients, serum AMH values were normal, no mutation on the AMH gene was found, and end-organ insensitivity was suggested to explain the persistence of müllerian derivatives. In the last patient, although AMH serum levels were very low due to a progressive degeneration of testicular tissue, molecular analysis of the AMH gene suggested that end-organ resistance might be the cause of the persistence of müllerian ducts. CONCLUSION: PMDS is not extremely rare. Many diagnostic mistakes are made which could be prevented by performing pelvic or inguinal ultrasonography before surgical treatment of bilateral cryptorchidism or irreducible inguinal hernia. Prognosis depends upon the integrity of the testicular tissue, sometimes compromised for yet unexplained reasons, and upon the successful correction of cryptorchidism, which is complicated by the close anatomical relationship between the vasa deferentia and the Müllerian derivatives.
[Neonatal herpes simplex hepatitis with favorable outcome after treatment with acyclovir].
BACKGROUND: Herpes simplex virus (HSV) may cause severe disease in the neonate with high mortality and devastating sequellae. This infection presents exceptionally as isolated fulminant hepatitis. CASE REPORT: An 8 day-old baby was admitted because of seizures, fever and vomiting. Initial investigations including CSF analysis were negative and the patient was given ampicillin plus netilmicin. Two skin vesicles were seen 5 days later containing HSV. A second CSF analysis was negative as was the brain scan. At that time, liver involvement was evident: ASAT 3700 IU/l; ALAT 1035 IU/l; prothrombin 37%; fibrinogen 1 g/l. Hemogram showed WBC: 2,500/mm3 and PNN: 702/mm3. The patient was given acyclovir 40 mg/kg/day IV. Blood and CSF culture remained negative; CSF interferon concentration was 4 IU/ml. Serologic investigations in both parents were inconclusive. The disease worsened rapidly with consumption coagulopathy requiring ventilation support. The dose of acyclovir was increased to 60 mg/kg/day, 9 days after admission. Improvement was noted on the 10th day and acyclovir was administered orally on the 21st day. The condition was completely normal 6 months later. CONCLUSION: Early administration of acyclovir may favor complete recovery of neonatal HSV hepatitis.
[Anti-NA1 alloimmune neutropenia in a newborn infant].
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[The Ko phenotype and fetal-maternal allo-immunization].
BACKGROUND: Very few people have no Kell antigens (phenotype Ko). They can develop antibodies to Kell antigens after transfusion, or the abortion of a Kell-positive fetus. This paper describes a case of immunization that may have been due to amniocentesis. CASE REPORT: The eighth pregnancy of a woman required an amniocentesis on the 17th week for chromosomal study because she was 41 years old. She had 4 prior abortions. Her blood group was A Rh+. Her red cells were not tested for rare blood groups and antibodies to blood groups were not screened before and after amniocentesis. The newborn baby developed hemolytic anemia. On her 10th hour of life, her hemoglobin was 10.7 g% and her bilirubinemia 308 mumol/l. Her blood group was A Rh+. Indirect Coomb's test was positive in the mother, and the baby was given 3 exchange transfusions of O+, Ccee, K- blood. Further studies showed that the mother had phenotype Ko (A+, Ccce, K-, k-, Kpa-, Kpb-, Jsa-, Jsb-). The baby's phenotype was K-, k+, Kpa-, Kpb-, Jsa-, Jsb+. The mother was found to have a high titer of Ku antibodies. CONCLUSION: This mother belongs to one of the 3 families known in the Reunion Island to have phenotype Ko. She had never been given transfusions, and prior abortions are unlikely to have played a role since no hemolysis was seen in further newborns. While amniocentesis is probably a major factor, its role cannot be determined because no pre-amniocentesis samples were analysed immunologically.
[Tracheal neurinoma simulating status asthmaticus in a child].
BACKGROUND: Neurilemmoma is a benign tumor that is rarely located in the trachea. A neurilemmoma in the intrathoracic part of the trachea can mimic severe status asthmaticus. CASE REPORT: A 14 year-old girl was admitted because of persistent signs of status asthmaticus, despite bronchodilator therapy. She had no history of asthma. A worsening of the wheezing while she was in the intensive care unit led to intubation and respiratory support. X-rays showed pneumomediastinum. A dramatic improvement only followed replacement of the intratracheal tube. On the 5th day of the disease, tracheoscopy showed a sessile tumor obstructing two-thirds of the lumen, 3 cm above carena. Biopsy showed the tumor to be a neurilemmoma; it was excised. Scar tissue developed and was responsible for stenosis; it required laser therapy and an endotracheal prosthesis. Neither the girl nor her parents showed signs of neurofibromatosis. CONCLUSIONS: An intrathoracic tracheal tumor can produce asthmatoid wheezing. A definitive diagnosis can be made only by tracheoscopy.
[Mannonidosis. Apropos of 5 cases].
Mannosidosis remains an extremely rare entity (9 published cases). Our personal experience, based upon 5 cases, suggests that the diagnosis may be based upon both positive as well as negative clinical and paraclinical data, which differentiate the disorder from other diseases which it resembles. The use of simple methods--thin layer chromatography of oligosaccharides and measurement of serum mannosidase at pH 3.5 and 4.5--render diagnosis easy. It should, however, be mentioned that there exists no valid treatment for this apparently autosomal recessive disorder but that ante-natal detection is theoretically possible.
[Critical anatomo-radiologic study of innominate artery abnormality].
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