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.

Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion.

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations.

Diprosopus associated with neural tube defect and facial cleft in the first trimester.

We report a case of diprosopus presenting with increased nuchal translucency of 5.3 mm at 14 weeks of gestation. Ultrasonographically, the fetus presented with micrognathia, anterior indentation of the cephalic pole, abnormal cerebral hemispheres with a cystic 4th ventricle and angulation of the spine. The fetal karyotype was normal (46,XX). Following termination of pregnancy, postmortem examination established the diagnosis of diprosopus tetraophthalmus with facial cleft of the 2 faces.

Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study.

OBJECTIVE: To compare nasal bone assessment by ultrasound examination at 11-14 weeks' gestation and postmortem X-ray examination in fetuses with trisomy 21. METHODS: Twenty-one fetuses with trisomy 21 which had undergone sonographic examination at 11-14 weeks for measurement of nuchal translucency thickness and assessment of the nasal bones were examined by postmortem X-ray following termination of pregnancy. RESULTS: The nasal bones were absent in 11/21 (52.4%) fetuses on ultrasound examination at 11-14 weeks and in 10/21 (47.6%) fetuses on X-ray examination at 14 to 25 + 5 weeks. Ultrasound and X-ray findings were discordant in 9/21 (42.9%) cases. Eight of 11 (72.7%) fetuses with absent nasal bones on ultrasound examination had a nuchal translucency thickness > 95th centile. CONCLUSION: The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Prior to inclusion of nasal bone assessment into risk calculation for trisomy 21, the independence of absence of nasal bones by ultrasound and increased nuchal translucency above the 95th centile at 11-14 weeks should be investigated more extensively.

[The role of amniocentesis in the management of chorioamnionitis with Listeria monocytogene]. / Intérêt de l'amniocentèse dans le diagnostic et la prise en charge d'une chorioamniotite à Listeria monocytogenes.

Listeriosis is prevalent in pregnant women. Associated morbidity includes miscarriage, chorioamnionitis, intrauterine and neonatal death. Maternal symptoms are not specific and the diagnosis is difficult with a high rate of false-negative microbiology results. We report here the case a patient who developed a chorioamnionitis at 31 weeks gestation. Diagnosis was established by examination of the amniotic fluid. We report a case of Literiosis in pregnancy diagnosed by direct examination of amniotic fluid obtained by amniocentesis.

First-trimester diagnosis of fetal arachnoid cyst: prenatal implication.

We report a case of the early diagnosis of an arachnoid cyst. Transvaginal ultrasound examination of the fetal brain at 13 weeks' gestation revealed the presence of an anechoic mass above the posterior fossa. After extensive counseling and because of the uncertain prognosis of a first-trimester diagnosis of an arachnoid cyst, the parents opted for termination of pregnancy. The diagnosis was confirmed by postmortem examination.

Prenatal diagnosis of brain abnormalities in Wolf-Hirschhorn (4p-) syndrome.

OBJECTIVES: Although there have been occasional reports of prenatal diagnosis of this syndrome, most cases are diagnosed postnatally. The objective was to evaluate the presence of brain abnormalities in the prenatal diagnosis of Wolf-Hirschhorn syndrome. METHODS: Prenatal ultrasound and MRI examination of the fetal brain were performed in a case of Wolf-Hirschhorn syndrome. A comprehensive review of Wolf-Hirschhorn syndrome reported between 1960 and 2000 in the literature was carried out. RESULTS: The late diagnosis of a growth-retarded fetus with normal amniotic fluid volume, normal Doppler and negative infection screen calls for a detailed examination of the fetal brain and heart. Multifocal white matter lesions and periventricular cystic changes, which are often attributed to perinatal distress, are possible prenatal features causing suspicion of 4p- syndrome in an IUGR fetus. CONCLUSION: Subtle abnormalities on ultrasound may suggest a chromosomal problem. Standard cytogenetics cannot always demonstrate a microdeletion. High-resolution banding and molecular analysis can help to confirm the diagnosis.

Prenatal diagnosis of hydrocephalus-stenosis of the aqueduct of Sylvius by ultrasound in the first trimester of pregnancy. Report of two cases.

Hydrocephalus-stenosis of the acqueduct of Sylvius sequence (HSAS) is characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, agenesis of the corpus callosum and mental retardation. X-linked hydrocephalus is known to be due to mutations in the gene coding for the neural cell adhesion molecule L1 (L1-CAM) and diagnosis is made by identification of a mutation in the L1-CAM gene. Prenatal diagnosis of HSAS is usually suggested on ultrasound examination showing hydrocephalus in a male fetus associated with bilateral adducted thumbs. Mutation screening of the L1-CAM gene is indicated when neuropathological examination shows hypoplasia of the corticospinal tract associated with aqueductal stenosis. We report here two cases of HSAS diagnosed within the same family by ultrasound examination in the first trimester of pregnancy when bilateral adducted thumbs were the only early ultrasound marker.

Determination of chorionicity in twin gestations by high-frequency abdominal ultrasonography: counting the layers of the dividing membrane.

OBJECTIVE: Our aim was to determine whether chorionicity in twin gestations can be diagnosed by use of high-frequency ultrasonography to count the layers of intraamniotic membrane. STUDY DESIGN: This prospective study of 66 twin pregnancies between 13 and 38 weeks' gestation used transabdominal ultrasonography at 10 MHz. The pregnancy was classified as monochorionic when two layers were counted and as dichorionic when three or four layers were counted. The findings of the examiner, who had no other information about chorionicity, were compared with those of the histopathologic examination of the placenta. RESULTS: Ultrasonography allowed chorionicity to be determined correctly in 60 of 63 cases (95%; 100% in the second trimester and 92% in the third. The predictive value for dichorionicity was 100% (48/48) and the sensitivity 94% (48/51). The 12 monochorionic diamniotic pregnancies in which the membrane was visualized were all correctly diagnosed. In a thirteenth case, with severe oligohydramnios, the membrane could not be seen. Two patients were lost to follow-up. In 95% of the cases (63/66) only one examination was required to diagnose chorionicity. Intraobserver variability was 0% (0/26). Interobserver variability, tested by photographs, was 3% (2/65). CONCLUSIONS: This technique should be the first-line method for determining chorionicity in the second and third trimesters because it is the most effective. Its excellent reproducibility may be attributable to the use of high-frequency ultrasonography.

[Systemic scleroderma and primary bronchopulmonary adenocarcinoma. A new case]. / Sclérodermie systémique et adénocarcinome bronchopulmonaire primitif. Un nouveau cas.

The authors report a case of systemic sclerosis associated with primary lung adenocarcinoma. This association has previously been reported in patients with old scleroderma complicated by extensive fibrosis of the lungs allegedly regarded as a precancerous lesion. The case reported here is of interest owing to the absence of pulmonary fibrosis.

[Benign mucus-secreting tumors of the appendix. Six cases]. / Tumeurs mucosécrétantes bénignes de l'appendice. Six observations.

The authors report six cases of mucus-secreting tumor of the vermicular appendix, in four women and two men (mean age 59 years). All were benign. Pain in the right lower quadrant was the initial sign in 4 cases, while the mucus-secreting tumor was an incidental finding in the other two cases. A mass was palpated in the right lower quadrant in one case. A barium enema was performed in four cases and showed an extrinsic compression of the caecal base in one case, and of the right colon in another case. Four appendectomies, one associated with removal of the adjacent caecal tissues and two right colectomies were performed. Analysis of these six cases and a review of the literature allow us to recall the histologic classification of these tumors, which determines the prognosis and to emphasize the sonographic and CT scan findings which might lead to earlier preoperative diagnosis in the future. Management depends upon the circumstances under which the tumor is discovered, the local anatomy, and the type of tumor. Appendectomy is the treatment most often performed. Faced with a tumor of the appendix, without histologic proof or when the local anatomic conditions increase the risk of opening an abscess, right colectomy is recommended.

[Hemolysis in Kala Azar: isotopic study, possible role of a PNH like defect (author's transl)]. / L'hémolyse du Kala Azar. Etude isotopique, mise en évidence d'une sensibilité anormale au complément.

A case of Kala Azar with prevailing hemolytic anemia is reported. The hemolysis has been associated during a short time with positive PNH test (i.e.: Crosby and sucrose tests). According to the data found in the Litterature, the hemolysis occurs quite frequently. One of the possible mechanisms is an abnormal sensitivity of the erythrocyte membrane to complement, which had not yet been described.