Complete agenesis of major salivary glands.

A 4 year-old female patient was treated for persistent right-sided dacryocystitis and xerostomia. MRI was performed to screen for a dry syndrome; which resulted in the diagnosis of agenesis of the parotid and submandibular glands as well as lacrimal duct malformation. An MRI of each parent was normal. The mother's history revealed 4 days of pyrexia during the 8th week of amenorrhea. This was an isolated case, with no family history, characterized by a febrile episode during pregnancy at the period of main salivary gland genesis. Epigenetic mechanisms could be implicated.

[Tetragametic chimerism: Case report]. / Chimérisme tétragamétique : à propos d'un cas.

We report the third case of spontaneous monochorionic dizygous pregnancy, discovered on foetal sex discordance. Blood group testing on the female twin revealed a hematopoietic chimera. The mechanism of monochorionic dizygous formation could be the fusion of two independent zygotes at a late morula stage. A single placental mass with vascular anastomosis then develops. Stem cells exchanged during early foetal life can thus lead to chimeras, in similar conditions to stem cell transfusion in adults. Immaturity of the foetal immune system allows cell graft in the other twin's marrow. Assisted reproductive procedures are believed to promote such pregnancies.

Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

We report the prenatal management of a brachytelephalangic chondrodysplasia punctata (CDPX1) case and how postnatal findings confirmed the diagnosis. The mother was initially referred after ultrasound revealed an abnormal fetal mid-face and punctuation of upper femoral epiphyses. Chondrodysplasia punctata (CP) with Binder anomaly was suspected. 3D-HCT revealed brachytelephalangy suggesting CDPX1. At birth, mid-face hypoplasia was marked. Postnatal imaging and genetic analysis confirmed the initial diagnosis. Binder anomaly is probably always associated with CP. The newly revised CP classification facilitates the diagnosis. The main etiologies are metabolic and chromosomal abnormalities, and arylsulfatase E enzyme dysfunction. Thus, screening for arylsulfatase E mutation is mandatory for an accurate diagnosis and can lead to better delineation among CP etiologies associated with a Binder phenotype.

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients.

[Role of "subtle" ultrasonographic signs during antenatal screening for trisomy 21 during the second trimester of pregnancy: meta-analysis and CPDPN protocol of the Grenoble University Hospital]. / Quelle est la place des signes d'appels échographiques dits "mineurs" dans le dépistage prénatal de la trisomie 21 au 2e trimestre de la grossesse? Méta-analyse de la littérature et protocole du Centre pluridisciplinaire de Dignostic Prénatal (CPDPN) du CHU de Grenoble.

OBJECTIVE: A meta-analysis about subtle ultrasonographic signs in second trimester of pregnancy. MATERIALS AND METHODS: 196 articles dealing with the subject--from 1985 to July 2002--were studied. Data on the 11 reported signs were collected from 92 theoretically and/or statistically valid studies. Then, the studies were selected according to several criteria: isolated characteristic, defined thresholds, calculable sensitivity and specificity. After checking for homogeneity, a likelihood ratio was calculated for some of the signs. RESULTS: This meta-analysis of the second trimester ultrasonographic signs of Down's syndrome enabled us to estimate the likelihood ratio (LHR) of six signs. At 22 weeks'gestation (WG) these signs are: pyelectasis equal to or greater than 5 mm; nuchal fold thickness equal to or greater than 6 mm; persistence of choroid plexus cysts; shortness of the femur and humerus below the tenth percentile; hyperechogenic bowe; and nasal bone length less than 2.5 mm. CONCLUSION: These validated ultrasonographic signs are independent of nuchal translucency thickness at 12 WG and of maternal serum biochemistry. This allows to calculate a combinate risk for nuchal translucency, maternal serum biochemistry and second trimester ultrasonographic signs when they are validated.

[Combined use of nuchal translucency, gestational age and maternal age for evaluation of the risk of trisomy 21]. / Utilisation conjointe de la clarté nucale, de l'âge gestationnel et de l'âge maternel pour l'estimation du risque de trisomie 21.

PURPOSE: Despite the definition of new screening policies for fetal trisomies, based on nuchal translucency thickness (NT) or maternal serum, the prevalence of trisomy 21 remains high. We propose a strategy based on a combination of maternal age, gestational age and NT, measured at the first trimester ultrasound examination, for the assessment of risk. METHODS: We present, in this paper, a characterisation of the physiological increase of fetal NT between the 10th and the 14th week of gestation, in a preliminary study of 266 echographic examinations. Next we propose a calculation of the simultaneous risk of trisomy 21 based on marginal risks for maternal age and increased NT values available in the literature. RESULTS AND CONCLUSION: We propose to define a high-risk group associated to the NT marker by using a cut-off risk of 1/250 for the simultaneous risk. This criteria may, as well, be expressed by a pathological threshold of NT varying with maternal age and gestational age. Without questioning that women aged of 38 years or older are a high-risk group, this approach should allow an improvement of the prenatal screening for trisomy 21.

Population screening for aneuploidy using maternal age and ultrasound.

The coexistence of an epidemiological register and a multidisciplinary centre for prenatal diagnosis promoted us to report data collected during six years (1990-1995) in Isère county on prenatally detected chromosomal aberrations. During the whole study period prenatal diagnosis strategy towards chromosome aberrations was based solely on maternal age and ultrasound examination. Results showed a respective contribution of one-third/two-thirds for the two detection modes (maternal age/ultrasound signs). From 1990 to 1995 a significant increase in the proportion of prenatally detected autosomal aneuploidy was observed, from 52 per cent to 75 per cent (P < 0.001). This significant variation was mainly due to an increase in the proportion of prenatally detected trisomy 21 cases, and to an increase in the proportion of aberrations which were detected through first trimester ultrasound examination. The highest positive predictive values were observed for polymalformation, cardiac anomalies and cystic hygroma ultrasound signs (51 per cent, 21 per cent and 26 per cent, respectively). Our results for trisomy 21 are close to those obtained in other studies, even when prenatal strategies are different. Their interest lies in the fact that they can be considered as a reference level of prenatal diagnosis efficiency due to a strategy based on maternal age and ultrasound signs, a level which has to be taken into account when evaluating the benefits of additional serum screening policies in other studies.

[An unusual site of cardiac myxoma. Apropos of a case in an 11-year old child]. / Localisation inhabituelle d'un myxome. A propos d'une observation chez un enfant de 11 ans.

Cardiac myxoma, a relatively common condition in adults, is exceptionally rare in childhood. It is usually observed in the left atrium. The condition may be latent and a chance echocardiographic finding or present with arrhythmias, intermittent mitral obstruction or embolic phenomena. The authors report the case of an 11-year old child with no previous medical history, admitted to hospital after sudden right hemiplegia due to an ischaemic cerebrovascular accident. The investigation of a cardiac embolic abnormality led to the finding of a very large left ventricular tumour inserted into the mitral annulus and prolapsing into the left ventricular outflow tract, the histological examination of which confirmed the diagnosis of myxoma. Cardiac myxomas in children seem to have a much more variable site of implantation than in adults, especially in the right heart in infancy. Treatment is always surgical. Echocardiography should be requested early in children presenting with a murmur of recent origin, malaises, or unexplained inflammatory syndromes, and would seem to be the only means of avoiding the severe embolic complications of these histologically benign tumours.

Mapping of the orientation of myocardial cells by means of polarized light and confocal scanning laser microscopy.

The study of the topological organisation of myocardial cells is a basic requirement for the understanding of the mechanical design of the normal and pathological heart. We developed a technique based on multiparametric image analysis of transmitted polarized light to generate maps of the azimuth and the elevation angles of the myocardial cells. The properties of birefringence of the myocardium embedded in methylmetacrylate were measured in papillary muscles with monitored 3D orientation. This birefringence is positive uniaxial with a 0 degree extinction angle when the axis of the fiber is parallel to the axis of the polarizer or the analyzer. Thick sections were studied between crossed polars, and four images of each section were digitized for an angle of the polarizer with the section varying from 0-67.5 degrees in steps of 22.5 degrees. The amounts of transmitted light for each setup of the polarizer were combined in order to extract the values of the azimuth angle (modulo 90 degrees) and the elevation angle of the myocardial cells, according to the Johannsen equation. The respective maps of these angles were calculated and then assessed with confocal scanning laser microscopy. This method provides an efficient and accurate tool for the study of the histological architecture of the fetal and neonatal heart.

[Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques]. / Diagnostic anténatal de la mucoviscidose: indication du dosage enzymatique et des techniques de biologie moléculaire.

Prenatal diagnosis of cystic fibrosis established by study of RFLPs flanking the gene and, since 1989, by direct detection of the major mutation delta F508 is now widely used. However, there are still some indications of prenatal diagnosis by microvillar intestinal enzymes analysis. We propose a prenatal diagnosis strategy which combines both methods. This diagnosis strategy is applied to families with a 1/4 to 1/200 risk. Screening of delta F508 in the general population is discussed.

[Prenatal diagnostic imaging of abdominal cysts. Report of 9 cases]. / Images kystiques abdominales de diagnostic anténatal. A propos de 9 cas.

The authors report on 9 cases of cystic lesion detected by fetal ultrasound echography, uropathies and bowel dilatations having been excluded. The lesions were detected at a fairly advanced stage of pregnancy, during the 3rd trimester and involved 8 girls and 1 boy. Investigation of possible chromosomal and associated anomalies was carried out in each case. Analysis confirmed the frequency of ovarian cysts in the female subjects (6), but also demonstrated the following: 1 case of bowel duplication, 1 cystic Meckel diverticulum, 1 liver biliary cyst (boy). The etiology and diagnostic difficulties and the approach to be adopted are noted. The authors emphasize the frequent signs of complications, especially as regards ovarian cysts. A thorough clinical examination and echographic detection and confirmation of the lesions is indicated followed by early surgical intervention if the cyst persists; so that, particularly in the case of ovarian cysts, the organ in question is preserved to the maximum.

[Atheromatous lesions of the proximal aorta. Severe complications of homozygous type IIa hypercholesterolemia in children]. / Les lésions athéromateuses de l'aorte proximale. Complications graves de l'hypercholestérolémie type IIa homozygote chez l'enfant.

Coronary lesions with atheromatous deposits occurring in later childhood characterize homozygous type IIa hypercholesterolaemia and condition the somber prognosis of a disease which affects one subject in a million. However, aortic lesions are constantly found, as shown by routine ultrasonographic and angiographic studies in these children. The walls of the proximal aorta are cardboard-like and thick, the origin of the aorta is narrow and the semilunar aortic valves are thickened. The valvular or supravalvular aortic gradient may be considerable; it is often progressive, but is sometimes stabilized or made regressive by medical treatments combined with plasmapheresis or porto-caval shunt. Aortoplasty or aortic valve replacement being difficult to perform in these patients, more aggressive therapeutic procedures, such as liver or heart transplantation, have been suggested. The last generation cholesterol-lowering drugs seem to offer some hope of success.

[Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases]. / Sclérose tubéreuse de Bourneville à révelation néonatale. A propos de deux observations.

A cardiac murmur was found in a newborn, after 12 hours of life. It was related to an intracardiac tumor, and we made the diagnosis of tuberous sclerosis. The same diagnosis was made in another patient, with a tumor diagnosed by obstetrical echography. In these two cases, seizures occurred rapidly during the evolution. In one case, the heredity was dominant, in the other one, it was a "de novo" mutation. It is unusual to diagnose tuberous sclerosis during the neonatal period, so we report these two cases.