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Biomedical subjects

F Cuillier

Publications and source records attributed to F Cuillier.

15 recordsLinked to original sources

[Subependymal pseudocysts in the fetal brain revealing Zellweger syndrome].

Prognosis of subependymal pseudocyst is poor when associated with other anomalies. They can be caused by infectious, vascular, chromosomal or metabolic disorders but are rarely described in the antenatal period. We report the prenatal diagnosis of subependymal pseudocyst by MRI after prenatal detection of isolated ventriculomegaly at 23 weeks gestation. The karyotype was normal. The diagnostic of Zellweger syndrome was suspected and was confirmed after birth by metabolic studies. Metabolic studies with culture of chorionic villus cell is indicated for subsequent pregnancies.

Adult↗

[Antenatal discovery of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) at 12 weeks gestation].

Megacystis on antenatal scan in female fetuses is rare and has diagnostic implications. We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) in a female infant. The antenatal scan revealed abnormalities, but the diagnosis was not established until after delivery. MMIH is a rare autosomal recessive condition which is usually lethal in the first year of life. Prenatal diagnosis is hampered by the lack of specific diagnostic ultrasound findings and the absence of an identified genetic locus.

Colon↗

[Intrauterine device appendicitis: an exceptional complication].

We report a case of migration of an intrauterine contraceptive device to the appendix. In this patient with a clinical presentation suggestive of appendicitis, transvaginal ultrasonography visualized a device located outside the uterus, near the small bowel. The device, which was partially embedded in the appendix, was removed via laparoscopy and laparotomy. Appendicular migration of an intrauterine device is exceptional. A literature review spanning the past years only revealed a few reported cases. Most of the authors recommend removal because of the potential for inflammatory reactions that can cause bowel obstruction and perforation.

Adult↗

[An atypical Demons-Meigs syndrome].

Meigs'syndrome is defined as a hydrothorax with ascites and benign ovarian tumor, both of which resolve on removal of the tumor. Pseudo-Meigs'syndrome or atypical Meigs'syndrome occurs when a pelvic mass other than an ovarian fibroma is present with hydrothorax and ascites. Both these syndromes should be nevertheless considered in women who present hydrothorax and ascites. This case concerns a 50-year-old woman who presented a pseudo-Meigs'syndrome (Hydrothorax and uterine leiomyoma). The distinction between these two syndrome is useless, because tumour removal is the only treatment.

Ascites↗

Antenatal diagnosis and management of a vallecular cyst.

Vallecular cysts are rare. It is important to be aware of their presence as they can cause upper airway obstruction. We describe a case of congenital vallecular cyst diagnosed at 28 weeks of gestation. This early diagnosis enabled us to plan careful perinatal management. We believe that, in cases of suspected oropharyngeal tumors, elective delivery should be carried out in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

Adult↗

[Prenatal diagnosis at 25 weeks gestation and neonatal management of a vallecular cyst].

Due to the anatomical location, vallecular cyst is a rare but well-recognized cause of upper airway obstruction and death in newborn. This cyst can be accurately diagnosed by echography in utero and by MR imaging. Prenatal diagnosis allows for early consultation with surgical specialist, so that the time and place of the delivery can be addressed for neonatal preoperative planning. We report the first prenatal diagnosis of a vallecular cyst at 25 weeks of gestation. At birth, the cyst was drained and then marsupialized. We believed that, in cases of oropharyngeal tumors discovered in utero, elective delivery should be realised in a tertiary referral center in which emergency ventilation and tracheostomy are possible.

Adult↗

[Fallopian tube torsion: five cases with no other element].

Isolated Fallopian tube torsion is extremely rare and diagnosis is difficult. Laparoscopy is necessary, but surgery is often performed too late to preserve the tube. Five cases of Fallopian tube torsion with no other element are presented. Diagnostic difficulties, causes, ultrasonographic findings and treatment are discussed. Early diagnosis and surgical intervention is mandatory when exceptional isolated Fallopian tube torsion is suspected particularly in a nulliparous young woman.

Abdominal Pain↗

[Prenatal diagnosis of omphalopagus conjoined twins at 13 weeks of amenorrhea].

Conjoined twins are a rare occurrence. We present a case of conjoined twins at 13 weeks' gestation. This case demonstrated the possibility of making an accurate diagnosis of conjoined twins and delineating the extent of organ sharing in the first trimester. This analysis and the discover of another anomalies can help the parents with the option for pregnancy termination. Early diagnosis and precise delineation of the shared organs of conjoined twins are essential for optimal obstetric and postnatal management.

Female↗

[Fallopian tube torsion in a 15-year-old adolescent].

UNLABELLED: Isolated Fallopian tube torsion in teenagers is extremely rare and diagnosis is difficult. Coelioscopy is necessary, but surgery often occurs too late for tube conservation. CASE REPORT: A case of Fallopian tube torsion bringing about a cyst is presented. Diagnostic difficulties, echography, treatment and cause are discussed. CONCLUSION: Early diagnosis and surgical intervention is mandatory when isolated Fallopian tube torsion is suspected.

Adolescent↗

Antenatal presentation of isolated femoral hypoplasia discovered at 18 weeks of gestation.

Prenatal diagnosis performed by ultrasound scan is now a routine part of antenatal care in France. A case of congenital short femur in an otherwise healthy infant is described. Antenatal diagnosis was made at 18 weeks of gestation and ultrasonic follow-up was performed. The right femur was shorter than the left. Further sonographic exploration demonstrated unilateral femoral hypoplasia without another anomaly. In this case, the occurrence of congenital short femur was sporadic. The diagnosis was confirmed after delivery. Prenatal sonographic features, differential diagnosis, prognosis and management are discussed. This case illustrates the importance of ultrasound as an early detector of certain congenital anomalies and as a useful tool in their follow-up.

Adult↗

Maxillo-nasal dysplasia (binder syndrome): antenatal discovery and implications.

Binder syndrome (BS) or maxillo-nasal dysplasia is an uncommon developmental anomaly affecting primarily the anterior part of the maxilla and nasal complex. The characteristic findings are a failure of development in the premaxillary area with associated deformities of the nasal skeleton and the overlying soft tissues. Affected individuals typically have an unusually flat, underdeveloped midface (midfacial hypoplasia), with an abnormally short nose and flat nasal bridge, underdeveloped upper jaw, relatively protruding lower jaw and/or a 'reverse overbite' (or class III malocclusion). A case of BS was diagnosed at 24 weeks of gestation using two- and three-dimensional ultrasound. The first sign was an isolated flattened fetal nose in the mid-sagittal plane. Further ultrasound imaging showed the absence of the naso-frontal angle, giving impression of flat forehead and small fetal nose. We discuss about this entity.

Adult↗