Walker-Warburg syndrome diagnosed by findings of typical ocular abnormalities on prenatal ultrasound.

Walker-Warburg syndrome (WWS) is a rare, lethal autosomal recessive disorder characterized by congenital muscular dystrophy and brain and eye anomalies. A prenatal finding of hydrocephalus associated with posterior fossa anomalies and/or encephalocele is nonspecific, whereas additional ocular anomalies are typical for WWS. We report a fetus of consanguineous parents found to have encephalocele at US in week 15 of gestation. The parents did not wish to terminate the pregnancy. Follow-up US revealed bilateral abnormal ocular echoic structures suggesting a major form of persistent primary vitreous. WWS was suspected. The POMT2 mutation confirmed this diagnosis. In hydrocephalus associated with posterior fossa anomalies and/or encephalocele, we recommend detailed US examination of the fetal eyes. Ocular anomalies in this context strongly suggest WWS.

Isolated hyperechoic fetal colon before 36 weeks' gestation reveals cystinuria.

OBJECTIVES: To determine whether there is an association between the fetal ultrasound finding of hyperechoic colon and the gestational age at which it presents and cystinuria. METHODS: A prospective national survey was performed in France including all observations of isolated fetal hyperechoic colon detected at routine second- and third-trimester ultrasound over a 2-year period. Collected images were reviewed by experts. Colon was defined as being hyperechoic when its echogenicity was at least equal to that of the iliac bone. It was diagnosed when large tubular echogenic portions of the colon, without a focal mass and without posterior acoustic shadows, were observed at the periphery of the abdomen. Urinary amino acid analysis was performed after birth in the cases identified to test for cystinuria. RESULTS: Nineteen fetuses with ultrasound findings of hyperechoic colon were included, and the mothers of 16 of these agreed to participate in the study. In eight of nine cases of hyperechoic colon observed before 36 weeks' gestation cystinuria was confirmed at birth. In the seven remaining cases, observed after 36 weeks, none was found to have cystinuria and all had normal images at previous routine ultrasound scans at 22 and 33 weeks. When present, no difference in the sonographic appearance of hyperechoic colon was noted between the two groups. In the cystinuria-affected cases, the length of the hyperechoic mass appeared to increase with gestational age. CONCLUSIONS: In our experience, the presence of a hyperechoic colon at routine ultrasound scan before 36 weeks' gestation should prompt screening for cystinuria at birth, while later observation (> 36 weeks) of this finding does not appear to be related to any disease.

[Lung signal on fetal MRI: normal values and usefulness for congenital diaphragmatic hernia]. / Signal pulmonaire foetal en IRM: valeurs normales et application à la hernie diaphragmatique congénitale.

PURPOSE: To demonstrate the feasibility of lung signal measurements on fetal MRI, present normal signal intensity curves, and assess its value to predict pulmonary hypoplasia. PATIENTS AND METHODS: Prospective multicentric study of 115 fetuses without lung disease and 33 fetuses with left diaphragmatic hernia and high risk of pulmonary hypoplasia. Signal measurements were obtained of the lungs, liver and psoas from fast heavily T2W sequences (HASTE, 2 measurements and 2 orthogonal planes for each organ, oval-shaped ROI of 1 cm2 for lungs and liver, and 0.5 cm2 for the psoas). RESULTS: No direct linear relationship existed between lung signal intensity and gestational age. A direct linear relationship existed between liver signal and gestational age, and between psoas signal and gestational age. An exponential relationship existed for the ratios left lung/liver, right lung/liver, left lung/psoas and right lung/psoas. The inter-observer agreement was excellent, ranging between 0.888 and 0.926. Significant differences were observed between normal fetuses and fetuses with diaphragmatic hernia for the right lung/liver and left lung/psoas ratios. CONCLUSION: Normal fetal lung signal intensity curves can be obtained. Lungs at risk of hypoplasia presented significant alterations of signal ratios. The prognostic value of such results requires additional postnatal clinical follow-up.

[Cerebral infarction in full-term newborns: MR imaging features]. / Accident vasculaire cérébral (AVC) du nouveau-né à terme: aspects en IRM.

PURPOSE: Perinatal stroke is the most frequent cause of congenital hemiplegia. The MR imaging features of cerebral infarction in full-term newborns will be reviewed and the underlying etiologies discussed. PATIENTS AND METHODS: Retrospective study (1999-2005) including 15 newborn infants without history of fetal distress with early seizures (before day 7) with ischemic or hemorrhagic infarct on MR. All MR examinations were reviewed by consensus (MBD, CHA) using a checklist and results were correlated with findings at clinical follow-up (mean follow-up of 1 year). RESULTS: MR showed ischemic strokes in 10 infants (5 left, 4 right, 1 bilateral) in the middle (n=9) or anterior (n=1) cerebral artery distribution or with extensive bilateral distribution. The cortex and subcortical regions were involved in all cases with ipsilateral basal ganglia/internal capsule extension in 4 cases. The imaging features were related to the timing of the MR examination: within 5 days (n=4): cortical effacement on T1W and T2W images, increased signal on DWI with reduced signal on ADC; between 7-14 days (n=6): T1W hyperintense and T2W hypointense cortex. Five infants had unifocal (3/5) or multifocal (2/5) hemorrhagic infacrtion. Of 13 patients followed-up from 3 months to 3 years (1 lost to follow-up, 1 deceased), 11 had no clinical deficits, 1 had hemiparesis, and 1 had asymmetrical muscle tone. The latter 2 infants had involvement of the posterior limb internal capsule, with basal ganglia and hemispheric involvement. In the literature, this association of lesions is considered predictive of hemiplegia and a high rate of sequelae is reported following neonatal stroke: 50-75% with motor deficit and/or seizure disorder. The 4 infacts with hemorrhagic infarction followed-up for 14 months to 5 years had a globally favorable neurological outcome. CONCLUSION: Cerebral infacrtion in full-term newborns without associated risk factor is variable and should be recognized. Early MR, before day 2, with diffusion-weighted sequences, allows diagnosis but follow-up MR after day 7 is necessary to better depict the extent of permanent lesions. The presence of hemorrhage is not a predictive factor of poor neurological outcome.

[Fetal MRI: indications, limits and dangers]. / IRM foetale: indications, limites et dangers.

Although prenatal sonography remains the primary imaging method for screening fetal anomalies, fetal MRI with ultrafast imaging technique is a complementary imaging method as soon as the second trimester. It allows better tissue contrast images than does US, a large field of view of the foetus and is not limited by large maternal body habitus and oligohydramnios, without any risk for the foetus. In the future, the development of new techniques (diffusion-weighted imaging, proton MR spectroscopy) and faster sequences will make it possible to widen the indications i.e. cardiac, functional renal and cerebral imaging.

[A voluminous sacrococcygeal teratoma: prenatal diagnosis, in-utero treatment and obstetric management]. / Tératome sacrococcygien de la taille du faetus: surveillance anténatale, thérapeutique faetale in utero et prise en charge obstétricale.

Sacrococcygeal teratoma is the most common and benign fetal tumor. Fetuses with sacrococcygeal tumors that are predominantly solid and highly vascularized have a high risk of fatal issue. Hydrops and tumor hemorrhage are associated with a highest risk of fetal death. Management of these tumors includes ultrasound scan with Doppler and magnetic resonance imaging (MRI) is usually used for evaluation of its intrapelvic extension and relationship to the other structures. New in-utero treatments as vascular coagulation have been applied in fetuses with highly vascular teratomas but these techniques are still experimental and need more investigations. The management of delivery depends on associated anomalies, tumor vascularity and size.

[Sonography with color and pulsed Doppler in fetal pulmonary malformations]. / Apport de l'échographie avec Doppler couleur et pulsé dans les malformations pulmonaires du foetus.

OBJECTIVE: Evaluate the advantages of color Doppler and pulsed Doppler in the diagnosis and prognosis of fetal pulmonary malformations. MATERIALS AND METHOD: This retrospective study of 24 fetuses explored pulmonary malformations using sonography. A classification into four groups was made based on the presence of cysts and the echogenicity of the lesion, then analysis of video recordings including Doppler with an interpretation chart: afferent vessel, color chart, spectrum shape (afferent vessel and within the malformation) to determine the contribution of Doppler within each group. RESULTS: Four lesions were avascular: bronchogenic cysts (three cases), subphrenic sequestration (one case). The other lesions were vascularized and color Doppler determined the source of vascularization feeding the malformation: branches of the pulmonary artery in 13 cases (eight cases of cystic adenomatoid disease, two cases of atresia, and three airway obstacles) or the aorta in seven cases (pulmonary sequestrations) with pulmonary venous return, six cases (intralobular sequestrations), or systemic venous return, one case (extralobular sequestration). The pulsed Doppler recording in the malformation (six cases) completed the color Doppler examination by showing the different spectrum shapes according to the aortic or pulmonary source of flow. The color chart matched in three cases (normal pulmonary segmentation) and was heterogeneous in eight cases (parenchymatous dysplasia). Furthermore, perfusion intensity was correlated with lesion progression. CONCLUSION: Color Doppler and pulsed Doppler provided a more precise diagnosis of these malformations and seems to contribute prognostic information.

[Ductus venosus agenesis]. / Agénésie du canal d'Arantius.

OBJECTIVE: Congenital absence of the ductus venosus is a rare anomaly in the fetus. The aim of our study was to evaluate the clinical and ultrasonographic features and outcome of the fetuses with ductus venosus agenesis. STUDY DESIGN: We describe 12 cases in the period between 1992 and 2004. The umbilical vein drained either into the right atrium directly (2 cases) or by the coronary sinus (1 case), or in the inferior vena cava (5 cases), or in the azygos vein (1 case), or in the portal vein (3 cases). Our data where analyzed with the cases published in the literature. Two groups of anastomoses where defined on the basis of the hemodynamic consequences: the group of extrahepatic anastomoses (53 cases) and the group of intrahepatic anastomoses (22 cases). RESULTS: In the group of extra hepatic anastomoses, cardiomegaly was the most common antenatal finding (39%), while in the intra hepatic group hydrops fetalis occurred most frequently (23%). Malformation rate was high in both groups (56% and 45%) and chromosomal anomalies where present in 9% of cases. CONCLUSION: Careful assessment of the umbilical venous return and the ductus venosus should be a part of examination of every fetus with cardiomegaly, polyhydramnios, ascites or hydrops. In case of absence of the ductus venosus a referral scan, a fetal echocardiography and a karyotype should be performed.

Prenatal diagnosis and postnatal follow-up of pericallosal lipoma: report of seven new cases.

BACKGROUND AND PURPOSE: Pericallosal lipomas are rare tumors. Few reports have included their imaging characteristics. Furthermore, little is known about their evolutive course. Our purpose was to describe the imaging features of seven cases of pericallosal lipoma diagnosed in utero and followed up after birth. METHODS: We reviewed seven cases of pericallosal lipoma diagnosed by obstetric sonography (n = 7) and examined by fetal MR imaging (n = 5). Analysis of the complementary findings provided by fetal MR imaging was conducted. All findings were correlated with the postnatal imaging and clinical findings. RESULTS: Obstetric sonography easily showed the pericallosal lipoma in all seven patients. In one, however, it was misinterpreted as intracranial hemorrhage. The morphology and integrity of the underlying corpus callosum were less easy to assess by using sonography. Fetal MR imaging confirmed the fatty content and location of the lesion in all five cases. It showed the choroidal extension in two patients and the type of associated callosal anomaly in another patient better than did sonography. In two patients, the lipoma grew, as revealed by subsequent postnatal MR imaging. The results of the neurologic examinations remained normal for the five surviving patients at a mean follow-up of 3 years (1 month-9 years). CONCLUSION: Obstetric sonography is able to easily show pericallosal lipoma. Fetal MR imaging may be useful to characterize the lipomatous nature and the extension of the lipoma and the status of the corpus callosum. Long-term follow-up is necessary to understand the clinical consequences of such lesions.

Effect of enteral supplementation with glutamine on mesenteric blood flow in premature neonates.

BACKGROUND AND AIMS: This study investigated the effects of enterally supplied glutamine on mesenteric blood flow in premature neonate. METHODS: Twenty-five neonates, aged at least 14 days and free of acute illness participated in a prospective, randomised, double-blind study. All were fed with total enteral nutrition enriched with glutamine (0.7 g kg(-1)day(-1), group 1) or isonitrogenous control (group 2). Blood flow velocities in the superior mesenteric artery were analysed by pulsed Doppler US before and after 21 days of supplemented feeding. Peak systolic velocity (PSV), end-diastolic velocity (EDV) and time-averaged mean velocity (TAV) were measured and resistance index (RI) and flow (Q) were calculated. RESULTS: Both groups were well matched clinically at inclusion. At inclusion, the velocimetry parameters were (mean +/- SD) : PSV:114.9 +/- -38 cms(-1), EDV:17.5 +/- 7.5 cm x s(-1), TAV:44.8 +/- 18.2 cms(-1), RI : 0.8 +/- 0.1, Q : 2.4 +/- 1.2 mls(-1). Mesenteric blood flow parameters remained stable between day 0 and day 21 with same values in both groups. CONCLUSIONS: Superior mesenteric blood flow remained stable in neonates after 14 days of life and did not appear to be influenced by enteral glutamine at that stage.

[Mechanisms of the stagnation of dilatation in the active phase of labor]. / Mécanismes des stagnations de la dilatation en phase active du travail.

OBJECTIVE: Our study was designed to explain determinants of nonprogressive labor in nulliparous patients. STUDY DESIGN: One hundred consecutive nulliparous patients have got a cesarean section for active-phase arrest of labor after two hours of active management. Intrauterine pressure was monitored for all of them and a X-ray pelvimetry was done after surgery. RESULTS: Eighty-three percent of patients showed X-ray data considered as normal; hypotonic labor was found in 50% of cases and occiput posterior position in 60%. CONCLUSIONS: Our results suggest that occiput position and functional dystocia are more common in case of nonprogressive labor than abnormal measurements of the obstetrical pelvis.

[Prenatally detected multicystic renal dysplasia and associated anomalies of the genito-urinary tract]. / Dysplasie rénale multikystique de diagnostic anténatal et anomalies associées de l'appareil génito-urinaire.

PURPOSE: To analyze the prevalence of genitourinary malformations associated with multicystic dysplastic kidney (MCDK). PATIENTS: and method: A retrospective analysis of medical and imaging records of 54 neonates who had the prenatal diagnosis of MCDK was carried out. All infants had the following examinations during their first month of life: ultrasound, voiding cystourethrography and intravenous urography. Genital and urinary abnormalities were recorded. RESULTS: Vesicoureteric reflux was present ipsilaterally in 17% cases, on the opposite side in 31% cases. Ureteropelvic junction obstruction was found on the opposite side in 7% cases. Four cases of megaureters, one child with ureteric duplication, 3 boys with posterior urethral valves, 1 with reflux into the ejaculatory duct, one case of megacystis with reflux and one child with ureterocele were identified. Genital anomalies were: 2 cases of seminal vesicle cysts, one case of absent testis, 5 children with inguinal hernia, one boy with incomplete foreskin and one with hypospadias. CONCLUSION: Embryology may explain the highest prevalence of genito-urinary abnormalities on both sides in neonates with MCDK. Hence, a prompt clinical and uroradiological evaluation in these patients with a single functional kidney should be performed.

[Sedation with oral hydroxyzine and rectal chloral hydrate in pediatric MRI and CT]. / Sédation par hydroxyzine orale et hydrate de chloral rectal en IRM et TDM pédiatriques.

AIM: To assess the efficacy and risks of oral hydroxyzine and rectal chloral hydrate to sedate children undergoing CT or MRI. PATIENTS AND METHODS: 110 children underwent 117 studies. Medical history, treatments, doses per kg of sedative drugs, study quality, sedation time and side effects were prospectively recorded. RESULTS: 25 minutes was the mean time necessary to put children to sleep, 59 minutes was the mean time of sedation 96% of studies were interpretable. 2 children showed transient side effects. CONCLUSION: This sedation regimen appeared efficient. However, its limitations and risks have to be known by radiologists. Sedation-related problems also have to be considered by hospital managers when a new CT or MR equipment is being acquired.

[Postnatal echography and cystography after prenatal diagnosis of minor dilatation of the kidney pelvis. Prospective study of 89 cases]. / Echographie et cystographie postnatales après diagnostic prénatal d'une dilatation mineure du bassinet. Etude prospective sur 89 cas.

We evaluated postnatal management after the prenatal diagnosis of moderate dilatation of the renal pelvis (antero-posterior diameter superior to 1 mm per month of pregnancy and inferior to 15 mm at full term). Eighty-nine neonates who had a moderate dilatation in utero were evaluated by ultrasound and voiding cysto-urethrography. Ultrasound was performed between day 2 and day 7 in 83 cases, after day 7 in 6 cases. Voiding cysto-urethrography was performed during first month in 80 cases, after this period in 9 cases. Sixty-five neonates were shown to have a malformation of the urinary tract: reflux (n = 27), megaureter (n = 20), uretero-pelvic junction obstruction (n = 19), renal duplication (n = 7), posterior urethral valves (n = 2), horseshoe kidney (n = 1), ureteric cyst (n = 1). Reflux which is frequent in neonates with urinary tract infection, is the most frequent cause of moderate dilatation of the fetal renal pelvis. Combination of ultrasound and voiding cysto-urethrography in neonates allows a quick, full diagnosis. It helps rationalize the use of prophylactic antibiotic treatment.

[Evolution and radiologic surveillance on community-acquired pneumonia in children]. / Evolution et surveillance radiologiques des pneumopathies communautaires de l'enfant.

Although useful for the diagnosis of lower respiratory tract infections, chest X-rays have a weak specificity in the etiological diagnosis. It is of particular interest when complications are suspected. A radiological follow-up allows to exclude sequellae or a preexisting pulmonary abnormality; however follow-up X-rays are to be delayed 2 to 3 weeks after the clinical recovery due to the late radiological recovery. CT is indicated as a complementary investigation in cases of complications and sequellae.

[Retrograde cystography after a first episode of acute pyelonephritis in the child and adolescent]. / Cystographie rétrograde après un premier épisode de pyélonéphrite aiguë chez la fillette et l'adolescente.

In spite of its invasiveness, voiding cystourethrography remains the gold-standard examination for detecting vesico-ureteric reflux. The aim of this study was to determine if voiding cysto-urethrography is useful at any pediatric age in girls after a first acute pyelonephritis. 152 patients have been retrospectively studied. Both reflux frequency and grade progressively decreased according to age. Sonography was unable to predict reflux. In more than 3-year-old girls, 8/30 children with reflux had voiding dysfunction. We suggest clinical and/or a flow-metric evaluation for voiding dysfunction prior to voiding cystourethrography. After 9 years, reflux was so rare that voiding cystourethrography should be discussed on an individual basis.

[Sonographic findings of acardiac twin in the first trimester of pregnancy]. / Sémiologie échographique du foetus acardiaque au premier trimestre de la grossesse.

Twin Reversed Arterial Perfusion (TRAP) sequence, or the acardiac anomaly, is a rare complication of monozygotic twins, that occurs in approximately 1 in 35,000 births. In the first trimester, once the diagnosis of monochorionic twins is made, particularly if one embryo shows abnormal development or generalized edema, the TRAP sequence must be considered. Moreover, malformations reported in the perfused twin are often severe. Diagnosis is confirmed by using Doppler ultrasound which demonstrated the presence of retrograde perfusion in the umbilical cord of the abnormal twin. The more complete the body form is, the more similarity the vascular relationships have to the pattern found in a full-term fetus. Final outcome and treatment decisions can be determined based on hemodynamic criteria. We report a case of a misdiagnosed TRAP sequence with no structural malformations detected by ultrasonography at 12 weeks of gestation.

[Amniotic band syndrome: pathogenesis, prenatal diagnosis and neonatal management]. / Maladie des brides amniotiques: étiopathogénie, diagnostic anténatal et prise en charge néonatale.

Amniotic band syndrome is a collection of fetal congenital malformations, affecting mainly the limbs, but also the craniofacial area and internal organs. Two mains pathogenic mechanisms are proposed: early amnion rupture (exogenous theory) leading to fibrous bands, which entrap the fetal body; the endogenous theory privileges vascular compromise, mesoblastic strings not being a causal agent. The outcome of the disease depends on the gravity of the malformation. Termination of the pregnancy is usually proposed at the time of the diagnostic of severe craniofacial and visceral abnormalities, whereas minor limb defects can be repaired with postnatal surgery. In case of an isolated amniotic band with a constricted limb, in utero lysis of the band can be considered to avoid a natural amputation. However, as the exact etiology of amniotic band syndrome remains unknown and its natural course unpredictable, prenatal surgery continues to be controversial. Doppler studies of the constricted limb could be of useful predictive value of in utero amputation, and therefore could be helpful to determine when in utero treatment should be considered.