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.

[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.

[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.

Meckel-Grüber syndrome: sonography and pathology.

OBJECTIVE: To define a specific sonographic pattern for the appearance of the kidneys in fetuses affected by Meckel-Grüber syndrome (MGS). METHODS: This was a retrospective analysis of 30 cases, collected from five centers, with ultrasound features suggestive of MGS. Only fetuses with a confirmed diagnosis of MGS were finally included. Analysis included a detailed evaluation of the sonographic findings and comparison with pathological follow-up. RESULTS: Seventeen cases met the pathological criteria for a diagnosis of MGS and were included in the study. In all cases, a typical sonographic pattern was seen: the kidneys were enlarged (mean, + 4.8 SD) and showed unusual corticomedullary differentiation, occurring as early as the first trimester. In most cases, the medullary areas appeared excessively large and mottled due to the presence of multiple small cysts. CONCLUSIONS: The kidneys of fetuses with MGS are enlarged, cystic and have unusual corticomedullary differentiation. These features can be observed as early as the first and early second trimesters.

Favourable outcome of a tight constriction band secondary to amniotic band syndrome.

Amniotic band syndrome or amniotic disruption complex is a well-known congenital limb abnormality, which occurs in 1 in 1200 to 1 in 15,000 live births. In cases of an isolated band constriction, it has been speculated that the bands lead to decreased blood flow in the constricted limb and subsequent natural amputation. Fetal surgery could be considered in these situations in order to release the constriction band in threatened limb amputation. We present a case of a tight constriction ring secondary to amniotic band syndrome with a favourable outcome, despite the failure of an attempted surgical procedure.

Dilated coronary sinus in prenatal echocardiography; identification, associations and outcome.

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the '4 chamber' view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious.

[Metopic craniosynostosis, probable effect of intrauterine exposure to maternal valproate treatment]. / La craniosténose de la métopique, effet probable de l'exposition intra-utérine à un traitement maternel par le valproate.

UNLABELLED: Metopic craniosynostosis may be an adverse effect of valproic acid exposed fetus. CASES: We report two infants with metopic craniosynostosis, born to mothers who were treated with valproic acid. In one case, a prenatal diagnosis was made. In the other case, only the male dizygotic twin was affected. CONCLUSION: Trigonocephaly may be a symptom of valproate embryofoetopathy detectable by antenatal ultrasound examination.

Multicenter prospective study of children with sickle cell disease: radiographic and psychometric correlation.

After obtaining familial informed consent, between January 1996 and July 1997, 173 children (5 to 15 years old) with sickle cell disease were enrolled in a prospective multicenter study using blood screening, transcranial Doppler ultrasonography (n = 143), cerebral magnetic resonance imaging (n = 144), and neuropsychologic performance evaluation (n = 156) (Wechsler Intelligence tests WISC-III, WIPPSI-R), which were also performed in 76 sibling controls (5 to 15 years old). Among the 173 patients with sickle cell disease (155 homozygous for hemoglobin SS, 8 sickle cell beta0 thalassemia, 3 sickle cell beta+ thalassemia, 7 sickle cell hemoglobin C disease SC), 12 (6.9%) had a history of overt stroke, and the incidence of abnormal transcranial Doppler ultrasonography (defined as mean middle cerebral artery velocity > 200 cm/sec or absent) was 8.4% in the overall study population and 9.6% in patients with homozygous sickle cell anemia The silent stroke rate was 15%. Significantly impaired cognitive functioning was observed in sickle cell disease patients with a history of stroke (Performance IQ and Full Scale IQ), but also in patients with silent strokes (Similarities, Vocabulary, and Verbal Comprehension). However, infarcts on magnetic resonance imaging were not the only factors of cognitive deficit: Verbal IQ, Performance IQ, and Full Scale IQ were strongly impaired in patients with severe chronic anemia (hematocrit < or = 20%) and in those with thrombocytosis (platelets > 500 x 10(9)/L). Multivariate logistic regression analysis showed that abnormal magnetic resonance imaging (odds ratio [OR] = 2.76) (P = .047), hematocrit < or =20% (OR = 5.85) (P = .005), and platelets > 500 x 10(9)/L (OR = 3.99) (P = .004) were independent factors of cognitive deficiency (Full Scale IQ < 75) in sickle cell disease patients. The unfavorable effect of low hematocrit has already been suggested, but this is the first report concerning an effect of thrombocytosis and showing that silent stroke alone is not a factor of cognitive deficit when not associated with low hematocrit or thrombocytosis. The effect of hydroxyurea, which is known to increase hematocrit and decrease platelet count, on cognitive functioning of sickle cell patients should be evaluated prospectively.