[Diastematomyelia diagnosed prenatally]. / Diastématomyélie diagnostiquée en période prénatale.

We report a case of a 32-week-old foetus affected by diastematomyelia. A third trimester echography suggested a spine abnormality. Further investigations by CT-scanner and MRI were performed to precise the anomaly and to better counsel the couple on the prognosis. We performed a review of the literature about embryological hypotheses, clinical presentations, antenatal investigations and prognosis of such a rare spinal malformation.

The case of HNF-1beta mutation with medullary cysts.

We describe one case of long-term post-natal follow-up of hyperechoic fetal kidneys related to HNF-1beta mutation with cystic changes over a 9-year period in a female patient. This diagnosis was suspected on the basis of the renal US findings and was confirmed by complementary genetic examination. After birth, cortical cysts were detected and at the age of 4, medullary cysts were found, that disappeared with time. Currently our patient displays hyperechoic kidneys with only cortical cysts. This case report highlights the variability of US appearances in relation with HNF-1beta genetic mutation.

Atypical presentation of a Langerhan's cell histiocytosis of the forearm in a child.

We report a case of a 2-year-old child presenting with right forearm pain. Based on imaging analysis, the initial diagnosis was osteomyelitis but the final diagnosis demonstrated by histology was Eosinophilic Granuloma (EG) of the forearm. We detail the rare radiological presentation of such a lesion, the various clinical presentations and the work-up advised in this context.

[Postnatal evaluation and management of fetal pyelectasis on prenatal ultrasound]. / Mise au point postnatale des dilatations des voies urinaires de diagnostic anténatal.

Fetal pyelectasis is the most frequently encountered anomaly on prenatal ultrasound. The ultrasound diagnostic criteria are well established: nature of dilated structures, degree of dilatation, ultrasound appearance of the kidneys, volume of amniotic fluid. Ultrasound can also determine if the anomaly is isolated or not, which is important for the management and prognosis of the pregnancy. Ultrasound is the initial postnatal study to evaluate the urinary tract. Further management will be based on suspected diagnosis. In cases of suspected vesico-ureteral reflux, VCUG is performed. In cases of obstructive uropathy or complex malformation (duplications), MRI is performed at 6 months of age to further define the anatomy of the urinary tract. Radionuclide renogram, performed in most cases, allows evaluation of split renal function. Follow-up ultrasound is important to monitor renal development, urinary tract dilatation and appearance of the renal parenchyma. Functional follow-up is assured by radionucline renography. This comprehensive follow-up is recommended to prevent complications and progressive loss of renal function.

An unusual case of congenital cardiac cyst of the interventricular septum.

We present a very rare case of a neonatal multiple haemangiomatosis with a cystic interventricular cardiac haemangioma. An anechoic cyst of 10 mm of diameter, located in the superior third of the interventricular septum was found by foetal echocardiography at 30 weeks of pregnancy. The baby was born at 39 weeks of pregnancy and the skin was covered with multiple purple cutaneous haemangiomas. As neonatal haemangiomatosis may be associated with visceral haemangiomas, the diagnosis of cardiac haemangioma was considered and transthoracic echocardiography revealed a translucent cyst consistent with this diagnosis. At 6 months of age, the cardiac mass was barely visible and most cutaneous lesions had regressed without treatment. Cardiac haemangiomas must be considered in the diagnosis of cystic masses, and the present case emphasizes the tendency towards spontaneous regression of these lesions.

[Imaging of urinary tract infection in children]. / Imagerie de l'infection urinaire de l'enfant.

Urinary tract infection is very common in children. Its diagnosis, management and treatment have led to abundant literature and many controversies. The main challenges are to identify patients at risk of infection and those at risk of complicated infections. Long-term complications include reflux nephropathy, renal hypertension and stage renal disease. Imaging has a triple role: to confirm the diagnosis in patients with equivocal clinical symptoms; to determine patients at risk of recurrence; prevention of infection by detecting already in utero patients with congenital malformation. During the acute phase, Ultrasound has an important role in detecting favouring conditions such as urinary tract dilatation. The use of color Doppler increases the sensibility and specificity of ultrasound. To date, DMSA scan is the key examination for demonstrating the parenchymal lesions. CT-scan and MRI are rarely used in this acute phase. Retrograde voiding cystography (RVC) will be used whenever vesico-ureteric reflux is suspected. A decision algorithm can be proposed bases on US and DMSA; RVC will be performed whenever one of them is positive. CT or MRI will be used to look for abscesses complicating the UTI. DMSA scan is the gold standard for detecting renal scanning, sequellae of the infection. In the future, the role of MRI will surely increase for the demonstration of uropathy acute and sequelae of the renal involvement.

Antenatal embolization of a large chorioangioma by percutaneous Glubran 2 injection.

We describe a case of a large chorioangioma diagnosed at 18 weeks' gestation. Because of advanced fetal heart failure at 23 weeks' gestation, embolization of the chorioangioma's vessels was performed by percutaneous injection of Glubran 2 surgical glue. There was no immediate secondary effect of treatment. Devascularization was complete and durable. Signs of fetal cardiac failure normalized after 1 month and a healthy infant was delivered at 38 weeks. To our knowledge this is the first reported case of perinatal survival after successful embolization of a chorioangioma using tissue glue.

Magnetic resonance imaging in the prenatal diagnosis of congenital diarrhea.

OBJECTIVE: Congenital diarrhea is very rare, and postnatal diagnosis is often made once the condition has caused potentially lethal fluid loss and electrolyte disorders. Prenatal detection is important to improve the immediate neonatal prognosis. We aimed to describe the prenatal ultrasound and magnetic resonance (MRI) imaging findings in fetuses with congenital diarrhea. METHODS: The study reports the pre- and postnatal findings in four fetuses that presented with generalized bowel dilatation and polyhydramnios. We analyzed the fetal ultrasound and MRI examinations jointly, then compared our provisional diagnosis with the amniotic fluid biochemistry and subsequently with the neonatal stool characteristics. RESULTS: In each of the four cases an ultrasound examination between 22 and 30 weeks' gestation showed moderate generalized bowel dilatation and polyhydramnios suggesting intestinal obstruction. MRI examinations performed between 24 and 32 weeks' gestation confirmed that the dilatation was of gastrointestinal (GI) origin, with a signal indicating intraluminal water visible throughout the small bowel and colon. The expected hypersignal on T1-weighted sequences characteristic of physiological meconium was absent in the colon and rectum. This suggested that the meconium had been completely diluted and flushed out by the water content of the bowel. The constellation of MRI findings enabled a prenatal diagnosis of congenital diarrhea. The perinatal lab test findings revealed two cases of chloride diarrhea and two of sodium diarrhea. CONCLUSION: Congenital diarrhea may be misdiagnosed as intestinal obstruction on prenatal ultrasound but has characteristic findings on prenatal MRI enabling accurate diagnosis; this is important for optimal neonatal management.

Antenatal diagnosis of a sacrococcygeal teratoma.

Although rare, sacrococcygeal teratoma is the most common congenital tumor. We report a case of a precociously diagnosed and rapidly growing cystic lesion. These tumors may be associated with hemodynamic and hemorrhagic complications. Therefore, affected fetuses should be carefully followed during the entire pregnancy by ultrasound and MR imaging in order to evaluate the evolution of the mass, its consequences on the fetal organs and to appreciate the wellbeing of the fetus. Delivery and post natal work up can therefore be optimized.

Fetal intracranial tumors: a review of 27 cases.

Fetal intracranial tumors are rare. The diagnosis is generally made on histology after birth. The aim of this study was to analyze clinical and imaging data in a series of fetal intracranial tumors and emphasize the findings that may help approach the diagnosis antenatally. We retrospectively analyzed imaging and clinical findings in 27 cases of fetal intracranial tumors assessed by ultrasound (27/27) and MR imaging (24/27). A histological diagnosis was always obtained. Main diagnoses included 15 germinal tumors (13 teratomas), 4 glial tumors, 2 craniopharyngiomas and 3 hamartomas. Average gestational age at diagnosis was 27 weeks for teratomas, 21 weeks for hamartomas and 34 weeks for glial tumors. All tumors but one were supra tentorial, and the lesion extended in the posterior fossa in two teratomas. A heterogeneous pattern, which was more frequently seen in teratomas, was better visualized by MR than US imaging. In addition, in two cases of teratomas, MR imaging better assessed the extension of the tumor. Teratomas and gliomas are the most frequent brain tumors in the fetus. US and MR imagings appear complementary in the prenatal assessment of these lesions.

In utero urinary bladder rupture: a case report.

We report a case of foetal urinary bladder rupture due to posterior urethral valves. A megacystis was diagnosed in a male foetus during routine second trimester ultrasound examination. The diagnosis of bladder rupture was made as, one week later, the bladder became undetectable with the appearance of ascites. During the follow-up, no oligohydramnios developed and intercurrent ascites resolved spontaneously. There are three described mechanisms releasing bladder hyperpressure: bladder diverticles, unilateral vesicoureteral reflux and bladder rupture. In this case, another mechanism might be involved: a patent urachus. The urethral valves were resected and no other surgical treatment was needed. The renal function remained normal. No long-term vesical follow-up of this pathology is available in the literature.

Perineal lipoma in a newborn boy--a case report.

We report the case of a newborn presenting with a pediculated mass arising from the anal margin. Antenatal sonogram and magnetic resonance imaging were unable to diagnose the precise nature of the lesion. Sacrococcygeal teratoma, an enterogenous cyst, a polyp, a prolapse or other perineal tumors were all proposed as possible entities. At birth, no other anatomic anomaly than this homogenous 2 cm para-anal lesion was seen. Excision of the mass was performed under general anesthesia. The postoperative histological exam showed mature fat cells. Reviewing the literature, there have been few previously reported cases of congenital perineal lipoma. It is a rare, benign and easy-to-treat condition that can be evocated by morphological sonography or magnetic resonance imaging (MRI).

Contribution of three-dimensional computed tomography in the assessment of fetal skeletal dysplasia.

OBJECTIVE: To compare the diagnostic accuracy of two-dimensional (2D) ultrasound and three-dimensional (3D) computed tomography (CT) for the diagnosis of fetal skeletal anomalies. METHODS: Eleven pregnant women underwent 2D ultrasound and 3D-CT. Ten fetuses presented skeletal anomalies on 2D ultrasound and one fetus had a normal ultrasound exam but a familial history of osteopetrosis. We compared retrospectively the diagnoses established on 2D ultrasound and 3D-CT with the neonatal and/or postmortem work-up, which were used as the gold standard. RESULTS: 2D ultrasound provided the correct diagnosis in only two of the 11 cases. CT yielded the correct diagnosis in eight; in six of these, 2D ultrasound had been inconclusive. 3D-CT was more accurate than was 2D ultrasound in visualizing vertebral anomalies (abnormal shape of the vertebral bodies, abnormal interpedicular distance), pelvic bone malformations (delayed ossification of the pubic bones, abnormal acetabular shape) and enlarged metaphysis or synostoses in long bones. In three cases, neither 2D ultrasound nor CT provided the correct diagnosis. CONCLUSION: In this series, which included a variety of skeletal dysplasias, 3D-CT had a better diagnostic yield than did 2D ultrasound. Both imaging techniques are useful in the management of fetal dysplasia; 2D ultrasound is a useful screening test and 3D-CT is a valuable complementary diagnostic tool.

Evolution of fetal ultrasonography.

The authors wish to highlight the evolution that has occurred in fetal ultrasound in recent years. A first significant evolution lies in the increasing contribution of first trimester ultrasound for the detection of fetal anomalies. Malformations of several organs and systems have been diagnosed during the first trimester. Furthermore the systematic measurement of the fetal neck translucency has led to increasing rate of detection of aneuploidies and heart malformations. For several years now, three-dimensional (3D) and 4D ultrasound (US) have been used as a complementary tool to 2D US for the evaluation of fetal morphology. This brings an improved morphologic assessment of the fetus. Applications of the techniques are increasing, especially for the fetal face, heart and extremities. The third field where fetal US is continuously providing important information is the knowledge of the natural history of diseases. This has brought significant improvement in the postnatal management of several diseases, especially urinary tract dilatation and broncho-pulmonary malformation.

Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study.

OBJECTIVES: To identify important factors in the differential diagnosis of renal cysts associated with hyperechogenic kidneys. METHODS: This was a retrospective multicenter study. We identified 93 fetuses presenting between 1990 and 2002 with hyperechogenic kidneys and which had a diagnosis of nephropathy confirmed later. We analyzed retrospectively the prenatal ultrasound findings of those fetuses which were found sonographically to have renal cysts. RESULTS: Of the 93 fetuses presenting with hyperechogenic kidneys and with a later diagnosis of nephropathy, there were 28 with autosomal dominant polycystic kidney disease (ADPKD), 31 with autosomal recessive polycystic kidney disease (ARPKD), 11 with Bardet-Biedl syndrome, nine with Meckel-Gruber syndrome, six with Ivemark II syndrome, one with Jarcho-Levin syndrome, one with Beemer syndrome and one with Meckel-like syndrome. One third of the fetuses (30/93) had renal cysts. Cystic characteristics (size, location, number) were not very useful for diagnosis; more useful was diagnosis of an associated malformation. Three (11%) of the fetuses with ADPKD had cysts, as did nine (29%) of those with ARPKD, three (27%) of those with Bardet-Biedl syndrome, all (100%) of those with Meckel-Gruber syndrome, three (50%) of those with Ivemark II syndrome, and each of the three cases with other syndromes (Jarcho-Levin, Beemer and Meckel-like syndromes). None of the cases with trisomy 13 had cysts. There were no associated malformations in the 12 cases with renal cysts and polycystic kidney disease; the other 18 cases with renal cysts were associated with malformations that were often specific, such as polydactyly in Bardet-Biedl and Beemer syndromes, occipital defect and Dandy-Walker malformation in Meckel-Gruber or Meckel-Gruber-like syndromes, and thoracic and/or vertebral abnormalities in Jarcho-Levin and Beemer syndromes. CONCLUSION: Renal cysts associated with hyperechogenic kidneys are not rare. The clue to diagnosis is the demonstration of an associated malformation. If no malformation is found, the main diagnosis remains polycystic kidney disease, i.e. ARPKD or ADPKD.

Prenatal prognosis of congenital diaphragmatic hernia using magnetic resonance imaging measurement of fetal lung volume.

OBJECTIVES: To investigate the correlation between fetal lung volume (FLV), measured with magnetic resonance imaging (MRI), and postnatal mortality in newborns with prenatally diagnosed isolated congenital diaphragmatic hernia (CDH). METHODS: In a 4-year prospective multicenter study, 77 fetuses with isolated CDH diagnosed between 20 and 33 weeks' gestation underwent fast spin-echo T2-weighted lung MRI. These MRI-FLV measurements were compared with a previously published normative curve obtained in 215 fetuses without thoracoabdominal malformations and with normal ultrasound biometric findings. FLV measurements were correlated with postnatal survival. The mean gestational age at MRI was 31.3 weeks. RESULTS: The measured/expected FLV ratio was significantly lower in the newborns with CDH who died compared with those who survived (23.6 +/- 12.2 vs. 36.1 +/- 13.0, P < 0.001). When the ratio was below 25%, there was a significant decrease in postnatal survival (19% vs. 40.3%, P = 0.008). Survival was significantly lower for neonates when one lung could not be seen by fetal MRI compared with those fetuses with two visible lungs on MRI (17.9% vs. 62.1%, P < 0.001). CONCLUSION: In isolated CDH, FLV measurement by MRI is a good predictor of postnatal mortality due to pulmonary hypoplasia.