[Prenatal diagnosis of neural tube defects: Correlation between prenatal and postnatal data]. / Diagnostic prénatal des dysraphismes spinaux : corrélation des données anténatales et postnatales.

OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity. All patients who benefited a prenatal diagnosis of NTD for their foetus, and for whom postnatal data were available were included. Prenatal and postnatal data, especially type of dysraphism, levels of defect and extent, and associated anomalies were compared. RESULTS: Sixty spinal dysraphisms were diagnosed antenataly. Concerning the type of dysraphism, ultrasound diagnosis was well correlated with postnatal findings (ρ=0.7048). Prenatal level and extent were correlated with postnatal data (respectively ρ=0.539 and ρ=0.562). Vertebral upper level defined by ultrasound agreed with postnatal constatations in 80.8% of cases within one vertebra, and in 84.6% of cases within two vertebras. Concerning indirect signs of spina bifida, prenatal data agreed with postnatal ones for most of them, especially for Arnold Chiari II malformation. CONCLUSION: There is a high correlation between prenatal and postnatal data. Prenatal ultrasound seems to be efficient for description of neural tube defects and to identify foetuses for which the benefit of in utero surgery exists.

The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies.

UNLABELLED: The Antley-Bixler syndrome is characterized by premature closure of coronal and lambdoidal sutures, proptosis, depression of the nasal bridge, brachycephaly, radio-humeral synostosis and bowing of ulnae and femora associated with fractures. Most cases have been reported after birth with only one case diagnosed prenatally after recurrence of this autosomal recessive syndrome. The two present cases are of interest because of prenatal diagnosis of renal agenesis in the first case and early detection of clinical signs during the second pregnancy. Beside the unusual severity of the renal abnormalities, both cases had an imperforate anus in addition to the more common genital abnormalities. CONCLUSION: Renal agenesis and imperforate anus may occur in the Antley-Bixler syndrome.

[A Buschke and Lowenstein tumor in a female patient]. / La tumeur de Buschke et Löwenstein. A propos d'un cas féminin.

Although it presents clinically as a malignant formation, the Buschke-Lowenstein tumour is known to be a histologically benign tumour caused by a papillomavirus infection from an condyloma acuminatum. The Buschke-Lowenstein tumour is generally observed in male subjects, usually on the penis, and rarely occurs in women. A female case is reported. In the literature, human papillomavirus 6 is the most common type although types 11, 16 and 18 are also reported. Surgery is the only treatment for this tumour which recurs readily.

Effect of clofibrate on the peroxisomes of the intestine of the rat during foetal development.

The aim of the present work was to study the action of clofibrate, known as peroxisomal proliferator, on the intestinal peroxisomes in the foetus of treated pregnant females. The Novikoff technique (catalase activity detection) shows an increase in the number and size of intestinal peroxisomes in the treated females and in the foetus. Significant differences were observed between enterocyte peroxisomal enzymatic activities (catalase and PBE: peroxisomal bifunctional enzyme) in treated and control females on the one hand, and in the foetus of treated and control mothers on the other. The ultrastructural immunocytochemical study of the PPAR (peroxisome proliferator activated receptor) shows labelling of the enterocyte nucleus and mitochondria by the gold particles.

[Gastroesophageal reflux associated with pseudohypoaldosteronism in a month old child. Report of a family case]. / Reflux gastro-oesophagien associé à un pseudo-hypoaldostéronisme chez un nourrrisson de un mois. A propos d'une observation familiale.

A patient was diagnosed with pseudohypoaldosteronism on the basis of hyponatremia with salt depletion and presence of pseudoaldosteronism in a cousin. Diagnosis was complicated by the fact that the patient had failure to thrive caused partly by gastroesophogeal reflux.