Search

A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.

In a six weeks old infant an hepatic abscess with several affected areas is diagnosed by ultrasonography confirmed by scintillation scanning. Closed percutaneous needle aspiration and antibiotherapy permitted a good outcome avoiding surgical drainage or excision.

Cerebral abscess is considered as a rare lesion with severe prognosis in neonates. The present means of cerebral imaging allow for a better estimation of its frequency, a more precise diagnosis of the evolutive stage and the estimation of the efficacy of the treatments. Incision-drainage associated with antibiotic treatment was successful in children. Two cases of neonatal cerebral abscesses treated and cured according to this protocol are reported.

A case of bacterial endocarditis in a newborn without any congenital heart disease is reported. The clinical diagnosis was suspected on evolutive heart failure by mitral dysfunction with sepsis. T.M. mode echocardiography could detect only the valvular defects. Correlations between anatomic and echocardiographic findings allowed to discuss the limits of the method. Neonatal bacterial endocarditis is a rare event. Its diagnosis is difficult and its prognosis very poor. This affection must be prevented.

The case is reported of a newborn with jaundice due to anti-D Rh iso-immunization, with a negative Coombs' test. The finding of a positive red cell auto-agglutination test, the red cells being treated with bromelin and incubated in their own serum, suggests an immune phenomenon. Free antibody with anti-D specificity reacting with bromelin treated R.B.C.'s was found in the sera of the mother and infant.

Report of the cases of two infants presenting with lymphoid hyperplasia of the colon, occuring after intestinal obstruction associated with enterocolitis. In one case, it was histologically proved. These cases emphasize the problem of the real meaning of lymphoid hyperplasia of the colon, as well as the meaning of its relationships with enterocolitis. Evolution was benign and it seems that there is no peculiar symptomatology.

Case-report of neonatal Marfan Syndrome with at birth the following observations: arachnodactyly, excessive length of arm, cardiac anomalies with hemodynamic troubles leading to death within 4 days. Anatomical data of the postmortem examination and histologic anomalies of the aorta confirm the diagnosis. No case of Marfan syndrome are to be found among forebearers. These characteristics underline the rarity, the gravity of the pronostic and the often sporadic appearance of the Marfan syndrome when revelated in the neonatal period.

This paper relates two cases of a complex syndrome with unusual facies, restricted articular movements and accelerated skeletal maturation (already present at birth) in two siblings (brother and sister). These infants died in early age: one was ten days, the other six weeks old. Clinical and radiological findings of these newborns are part of both the Marshall-Smith and the Weaver syndrome, suggesting that these syndromes are one entity. The observation of affected siblings from unaffected parents favors autosomal recessive inheritance.

Plasma prolactin levels were determined by an homologous radio-immuno assay in normal children: in cord blood, at the first day of life, during childhood and along puberty. 1. In both sexes, there is a very important secretion of prolactin during the neonatal period. 2. Longitudinal studies make obvious a different pattern of plasma prolactin in boys and in girls at puberty.

Toxoplasma infections are common on the Upper Leeward Islands (Saba, St. Maarten and St. Eustatius, Neth. Antilles) as proved by clinical evidence and serological determinations in patients and in healthy people. In schoolchildren an overall positive percentage of 45.5% was found. On St. Eustatius the highest frequency of recent infections was in the youngest age groups, in contrast with findings in the Netherlands and in Germany.

Four observations of intraventricular hemorrhage in full term neonates without perinatal asphyxia are reported. The clinical pictures were remarkably similar in the four infants: neurological symptoms developed several days after birth with sunsetting and eye deviation and symptoms of cranial hypertension. Ultrasonography and CT scan showed a thalamic hemorrhage.

A 2 month-old infant was admitted because of respiratory distress and thoracic assymetry. X-ray films revealed a distension of the left lung. A pneumo-angiography showed a cardiac silhouette displaced to the right and a normal vascular tree of the left lung. The rapid impairement of the clinical picture led to an exploratory thoracotomy. A tumor at the level of the left hyparterial bronchus was found. The histologic characteristics of the tumor were those of a hemangioma. Within the spectrum of broncheal tumors, hemangioma belong to benign mesenchymatous tumors and have a good prognosis providing that their removal is complete.

The CHARGE association includes a group of several malformations, and always a coloboma and/or choanal atresia. We present 8 cases of this syndrome, 5 complete and 3 incomplete forms. Prognosis at term seems severe, considering the visceral malformations (namely cardiac) and the cerebral handicap often associated. In most cases the CHARGE association is a sporadic event; however, one cannot exclude the possibility that certain forms follow a Mendelian pattern of inheritance. The mechanisms leading to this association have not yet been elucidated: it is probably due to migration abnormalities of the neural crests as in the VATER association of Di George syndrome.

The highly specific polymerase chain reaction recently described can be used to amplify selectively several polymorphic regions of DNA genetically close to the cystic fibrosis gene. This method, providing automated, revolutionizes the classical methods of prenatal diagnosis and carrier detection.

The authors report a case of post natal hernia with group B beta hemolytic streptococcus infection. The frequency of such an association compared to the rarity of delayed onset congenital diaphragmatic hernia may constitute a reflexion subject. The literature is reviewed and a concept of pathogenesis is discussed.

Variations of lactose and oligosaccharides in human milk were studied over a 3-month lactation period by dialysis, chromatography on Bio-gel P-2 column, paper chromatography, colorimetric analysis and gas chromatography. Milk samples were collected from donors of various blood and secretor types. An increase in the concentration of lactose was noted: 59.25 +/- 1.61 to 72.17 +/- 1.35 g/l for the group of secretor A secretor Lea Leb individuals, and from 62.25 +/- 1.35 to 73.15 +/- 3.45 g/l for the group of secretor H secretor Lea Leb individuals. A decrease in the concentration of oligosaccharides was also found: from 16.71 +/- 0.99 to 7.90 +/- 1.29 g/l and from 18.51 +/- 0.74 to 7.33 +/- 0.65 g/l, respectively, for these same groups. In secretor H nonsecretor Lewis individuals, the concentration of lactose increased from 67.97 +/- 3.09 to 77.42 +/- 1.88 g/l, and the concentration of oligosaccharides decreased from 13.27 +/- 0.40 to 3.47 +/- 0.33 g/l. Analysis of oligosaccharide composition by chromatography showed that variations are in relation to the secretor Lewis type. All oligosaccharides decreased equally throughout the lactation period, regardless of the blood group. The decrease was more rapid, however, in the nonsecretor Lewis individuals. In these individuals, the absence of certain oligosaccharides is not compensated by an overproduction of the other oligosaccharides present or by biosynthesis of structurally different oligosaccharides. The origin of these oligosaccharides is discussed.

An interstitial deletion of 7q (q31.2-q32.3) is reported. Main features of this boy included facial dysmorphy, psychomotor retardation and absence of language.

Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.

If the different forms of depression of humour are nowdays well known and easily surrounded and treated, it's for from being the case for the forms of excitation of humour, though they are as numerous. In these forms, indeed, whether they are atypical maniac attacks of hypomania, it may happen that the pathological nature of psychic excitation posses unnoticed, as well for the patient as for his familiars, or it may also happen that the excitation of humour desguises with "masks" suggesting other troubles, mental or not, which bad to delays in the setting of adapted treatments. These "masks" are essentially: -- hysteria and perturbations of character, in the neurosis register; -- delirious aspects, schizophrenical or confusional, in the psychosis register. In these states of hidden excitation, the most difficult thing, nevertheless, is to obtain from the patient a sincere claim for cares, contrarily to what can be noticed in the states of hidden deppression in which the somatical or psychological "complaints" of the patients are very easily exposed to the physician, a generalist as well as a specialist, and the treatments can be searched for.