[Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome]. / Hépatosplénomégalie fœtale au troisième trimestre : un signe d'appel de leucémie chez les fœtus porteurs de trisomie 21.

Risk for leukemic conditions increases in individuals with Down syndrome. We report a third trimester antenatal diagnosis of leukemia in a Down syndrome fetus. The third trimester ultrasound examination revealed a hepatosplenomegaly, which may suggest a myelopoiesis disorder. A review of the literature of eight cases described antenatally and 14 cases in the immediate neonatal period is presented.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

The prognosis of autosomal recessive polycystic kidney disease is known to correlate with genotype. The presence of two truncating mutations in the PKHD1 gene encoding the fibrocystin protein is associated with neonatal death while patients who survive have at least one missense mutation. To determine relationships between genotype and renal and hepatic abnormalities we correlated the severity of renal and hepatic histological lesions to the type of PKHD1 mutations in 54 fetuses (medical pregnancy termination) and 20 neonates who died shortly after birth. Within this cohort, 55.5% of the mutations truncated fibrocystin. The severity of cortical collecting duct dilatations, cortical tubule and glomerular lesions, and renal cortical and hepatic portal fibrosis increased with gestational age. Severe genotypes, defined by two truncating mutations, were more frequent in patients of less than 30 weeks gestation compared to older fetuses and neonates. When adjusted to gestational age, the extension of collecting duct dilatation into the cortex and cortical tubule lesions, but not portal fibrosis, was more prevalent in patients with severe than in those with a non-severe genotype. Our results show the presence of two truncating mutations of the PKHD1 gene is associated with the most severe renal forms of prenatally detected autosomal recessive polycystic kidney disease. Their absence, however, does not guarantee survival to the neonatal period.

[Isolated familial corpus callosum agenesis prognosis]. / Les agénésies isolées et familiales du corps calleux sont-elles de bon pronostic?

Agenesia of corpus callosum belongs to a group of cerebral malformations whose prognosis is uncertain. In such cases, assessment of prognosis may benefit from eventual associated fetal, obstetrical or familial features. We report a patient with an isolated corpus callosum agenesia that led to the discovery of a similar malformation in her father. This observation demonstrates that some forms of isolated and familial corpus callosum agenesia could have a favorable outcome. However, the difficulty of the assessment of prognosis in isolated corpus callosum agenesia is emphasized and the question of parental RMI exploration in such a peculiar context is raised.

[Histogenesis of the corpus callosum]. / Histogenèse du corps calleux.

The corpus callosum results from neocortical commissural axon fasciculation. Its development reflects the interhemispheric circuitry and then follows the successive steps of synaptogenesis. The first stage consists of callosal neuron differentiation, which allows the extention of the future callosal axon; this is an early event that occurs while neuronal migration to the cortical plate is still ongoing. Callosal axon guidance towards its specific target is the second step which includes reaching and crossing the midline and further target recognition with formation of initial synapses. This period extends from 12 to 22 post-conceptional weeks and corresponds to the following histological features: i) progressive invasion by callosal growth cones of the dorsal part of lamina reuniens through a preformed glial pathway; ii) appearence of the three parts of corpus callosum, namely truncus, rostrum and lastly the splenium. Both these stages are genetically controlled either directly by developmental gene expression (neurogenesis genes) or indirectly by the establishment of cue maps (spatial expression of extra-cellular matrix proteins). The third step is that of synapse remodeling by synaptic activity, giving rise to axonal elimination, macroscopically revealed by a transitory thinning of corpus callosum. This perinatal event contributes to the corpus callosum acquiring a mature topography. Finally, analysis of corpus callosum ontogenesis appears as a striking model of synaptogenesis study and provides physiopathological assumptions for a understanding of the corpus callosum agenesis.

Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: case report and review of the literature.

We present an antenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome. This rare dysmorphic disorder (only 51 cases have been reported to date) mainly associates defective costal development with features of the Pierre-Robin syndrome. The diagnosis is very often made at birth and the prognosis is very poor. Antenatal ultrasound examination may show a combination of orofacial and chest maldevelopment. In our case the diagnosis was made at 20 weeks' gestation during a routine ultrasound examination and the patient chose to terminate the pregnancy at 24 weeks.

[Prenatal diagnosis of vasa previa with velamentous cord insertion, using Doppler color echography]. / Diagnostic anténatal de vaisseaux praevia, avec insertion vélamenteuse du cordon, grâce à l'échographie-Doppler couleur.

We report a case of prenatal diagnosis of vasa previa, using colour Doppler imaging. This affection is rare, but can be responsible for very severe fetal complications during the delivery. Elements of the diagnosis were demonstrated in the clinical case and discussed. This is a new use of transvaginal colour Doppler in Obstetrics.

[Prenatal diagnosis of a placenta praevia percreta with color Doppler. A case report. Review of the literature]. / Diagnostic anténatal d'un placenta praevia percreta grâce au Doppler couleur. A propos d'un cas. Revue de la littérature.

Placenta praevia percreta, with bladder invasion, was diagnosed at 29 weeks of amenorrhoea with colour Doppler which visualized vascular bundles leaving the placenta and reaching the lower part of the bladder. These bundles were identified as including arterial elements with pulsed Doppler. The criteria for the diagnosis of placenta accreta with ultrasonography and colour Doppler have been presented in the literature. This prenatal diagnosis allowed adapted preoperative management and intensive care, however air embolism could not be avoided and the patient died at the end of the operation.

Nucleolar organizer regions in cardiac lesions induced by doxorubicin.

The use of the argyrophilic (Ag) staining technique for nucleolar organizer regions (NORs) revealed nuclear changes in myocytes of the left atrium of 10 rats treated twice a week for 6 weeks with doxorubicin (1 mg/kg body weight) iv and sacrificed after 6 weeks without treatment. The changes were easily detected qualitatively and further assessed by quantification. Cardiac myocytes of doxorubicin-treated rats had larger nuclei and/or a larger quantity of AgNORs that were either dispersed in a number of small dots or clustered in rounded, rod-shaped, or tortuous large structures. AgNOR alterations may reflect a defect of nucleolar association leading to an impairment of protein synthesis that could be involved in doxorubicin cardiotoxicity.

[Small cell carcinoma. Incidence, histopathology and anatomical features. Analysis of 465 autopsied bronchopulmonary carcinomas (author's transl)]. / Le cancer bronchique à petites cllules: fréquence, histopathologie et évolution anatomique; analyse d'un recrutement nécropsique de 465 cancers bronchopulmonaires.

465 patients with broncho-pulmonary malignant tumors have been autopsied. Small cell carcinoma was diagnosed in 22.5 per cent of these patients. The histo-cytological variants of these tumors (lymphocytoid, polygonal, fusiform and polymorphic) had the same general characteristics (age, sex, survival) and a similar clinical course. Grossly and histologically, the bronchial tumor, always located in proximal bronchial tree, largely involved the mediastinum. Metastases were peculiarly frequent to the liver (69%), to bone (64.2%) and to the central nervous system (36.2%). Three Schwartz-Bartter syndromes and two Denny Brown sensitive neuropathies were noted in this statistical study.