[Bone abnormalities and fetal cytomegalovirus infection]. / Anomalies osseuses et foetopathie à cytomégalovirus.

BACKGROUND: Viruses, such as those of congenital rubella and cytomegalovirus infection, have been associated with bone lesions of rarefaction. CASE REPORT: A full-term neonate was admitted at bith (birth weight: 1,630 mg; head circumference: 29 cm) for hypotrophy. A severe growth retardation had been diagnosed at 32 weeks of gestation. The fetal karyotype was normal. Search for maternal toxoplasmosis, syphilis and rubella was negative. The neonate had a complex heart defect; skeletal X-ray films showed metaphyseal transverse bands of rarefaction of the long bones and longitudinally streaked band of sclerosis and rarefaction at the ends of the femora. Urine culture was highly positive for CMV while CMV IgM were negative and CMV IgG highly positive in serum. CONCLUSIONS: Neonatal bone changes usually seen in congenital rubella infection may also be observed in CMV infection.

[Isotretinoin (RoAccutane) embryopathy. A case report]. / Embryopathie liée à l'isotrétinoïne (RoAccutane). A propos d'une observation.

Retinoids are synthetic vitamin A derivatives, particularly used in dermatology. Their prescription in women of childbearing age can cause, if pregnancy occurs, a serious malformative embryopathy, mainly involving external ear, brain and heart. A neonatal case caused by isotretinoin (RoAccutane) emphasizes the clinical and epidemiological data concerning this embryopathy. The aetiopathological hypothesis of an interaction between isotretinoin and Hox genes is advanced. Prophylactic measures are difficult since neonatal reported cases are uncommon, but antenatal exposition to this strong teratogenic agent results in multiple spontaneous abortions or pregnancy interruptions.

[Non-steroidal anti-inflammatory agents and pregnancy. A study of renal and digestive toxicity of niflumic acid in the perinatal period]. / Anti-inflammatoires non stéroïdiens et grossesse. Etude sur la toxicité rénale et digestive en période périnatale de l'acide niflumique.

We report a case of intrauterine exposure to niflumic acid in a preterm neonate (35 weeks of gestation). The mother received niflumic acid (750 mg daily) during the last four days of gestation. Severe oligohydramnios was present. A transient neonatal renal failure, but also abdominal complications were observed for several days. Maternal and neonate niflumic acid levels were studied and showed an important placental transfer. Niflumic acid is a prostaglandin synthetase inhibitor. It is important that the nephrotoxicity of this vasoactive drug be known. Maternal administration of niflumic acid during the last days of gestation can induce fetal and neonatal adverse effects, especially renal failure. Prescription of all nonsteroidal anti-inflammatory drugs must be very cautious during pregnancy.

[Chylous effusion and surgical treatment of diaphragmatic hernia in 2 newborn infants]. / Epanchement chyleux après cure chirurgicale d'une hernie diaphragmatique chez 2 nouveau-nés.

BACKGROUND. Post-operative chylous effusion is rare in infants. It may result from venous thrombosis, thoracic duct injury or lymphatic vessel obstruction. This paper describes 2 cases of diaphragm hernia with post-operative chylous effusion. CASE REPORTS Case 1: A newborn developed chylous ascites two weeks after repair of a left posterolateral diaphragm hernia. Abdominal paracentesis showed milky fluid containing numerous lymphocytes (98%). Ascites was rapidly reduced by feeding with medium-chain triglyceride-rich (MCT) formula. Case 2: A chylothorax was seen 7 days after surgery to repair a left posterolateral diaphragm hernia. Thoracocentesis showed serous fluid containing numerous lymphocytes (93%). The chylothorax was resolved after two thoracocenteses, parenteral nutrition and feeding with MCT formula. CONCLUSION. These cases are the third report of chylothorax and the second report of chylous ascites after surgical repair of a diaphragm hernia. The exact cause of the chylous effusion is not clear.

[Hemoperitoneum and splenic rupture in a newborn infant]. / Hémopéritoine et rupture de la rate chez un nouveau-né.

Splenic rupture is a rare cause of hemoperitoneum in the neonate. We report on a case of splenic rupture in a full-term neonate with normal spleen following a non-traumatic delivery. The spleen was found to be completely transected and a splenectomy was required. Several etiologies have been proposed: traumatic delivery, in utero fetal trauma prior to delivery, high birth weight, clotting defect, erythroblastosis fetalis. Partial splenectomy or repair of splenic laceration should be performed rather than total splenectomy which can cause severe bacterial sepsis.

Pterins analysis in amniotic fluid for the prenatal diagnosis of GTP cyclohydrolase deficiency.

Hyperphenylalaninaemia due to tetrahydrobiopterin deficiency is a group of rare and severe diseases. Prenatal diagnosis of dihydropteridine reductase and pyruvoyltetrahydropterin synthetase deficiencies can be achieved by enzyme assay in cultured fluid cells and/or fetal blood. In contrast, prenatal diagnosis of GTP cyclohydrolase deficiency can only rely on the measurement of pterin metabolites in the amniotic fluid. A pregnancy at risk for GTP cyclohydrolase deficiency was investigated. HPLC analysis of amniotic fluid pterins revealed neopterin and biopterin concentrations below the lowest limit of normal age-matched gestations. The mother refused abortion. The early follow-up of the child confirmed the diagnosis of GTP cyclohydrolase deficiency (hyperphenylalaninaemia, abnormal profile of urinary pterins and neurological deterioration).

Serum bile acids in newborns: evidence for an hepatic dysfunction in low-birth-weight infants.

The post-prandial pattern of total serum bile acids was studied in 47 newborns: 12 prematures (less than 36 weeks), 17 term low-birth-weight infants (less than the 3rd percentile), 18 term normals. The study was made at the end of the first month. Blood was collected in a peripheral vein using a microcatheter. Samples were taken at fasting time and 30, 60, 120, 180 min after a test meal intake (40 ml/kg of "humanized" milk based formula). Bile acids were assayed using an original enzymatic micromethod which needed only 50 microliter of serum and showed a sensitivity of 0.3 pmol in 200 microliter of reaction medium. The response of serum bile acids after the test meal was very similar in normal term newborns and in adults. Prematures exhibited bile acid levels slightly higher than normals, but this difference was significant only at 0 and 180 min. Low-birth-weight infants showed very high values of serum bile acids at all times during the test, compared to normal and premature infants. Serum levels of total bilirubin and alkaline phosphatase were similar in all 3 groups. These results are not consistent with cholestasis but rather indicate a specific dysfunction in bile acid metabolism in low-birth-weight infants.

[Value of echoencephalography through the fontanelle in neonates and infants (author's transl)]. / Apport de l'échoencéphalographie transfontanellaire chez le nouveau-né et le jeune enfant.

Echoencephalography through the fontanelle provides a complete scan of the head allowing the study of the ventricular system and cerebral parenchyma. The closure of the anterior fontanelle is the only limiting factor for this remarkably innocuous technique which is easy to perform (even in neonates under artificial ventilation in incubators), easy to repeat and relatively cheap. The authors report the results of 700 ultrasonic examinations carried out in 467 children. The echostructure of the brain, is studied in detail in 70 normal subjects (30 prematures, 31 at term neonates and infants under 1 year of age). In a population of 397 sick children the abnormal pictures were analysed according to clinical circumstances: perinatal distress (n = 107), prematurity (n = 81), hydrocephalus (n = 31), malformations (n = 9)... Our results confirm the usefulness of this technique for the early anatomic evaluation of any high-risk brain and for the follow-up of the lesions. The respective values of echography through the fontanelle, transcranial echography and computed tomography are discussed.