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.

[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.

Hyper-echogenic colon: a prenatal sign of cystinuria?

We suggest the term 'hyper-echogenic colon' to describe a hyperechoic foetal colonic content with no other intestinal abnormality. This is a rare pattern, which to our knowledge, has never been correlated with a specific pathology. The accidental observation of a cystine kidney stone in an infant who presented with this sign during the prenatal period made it possible to diagnose this disease retrospectively in two other children.