1/36. Anomalous ependyma inducing split cord and meningomyelocele?The case is that of a female fetus of 17 to 18 weeks' gestation with major defects of the central nervous system: (1) The thoracic vertebrae demonstrated rachischisis, with segmental diplomyelia; the duplicated cords were dissimilar in size and lay side by side within a single meningeal sheath lacking a dividing septum or spur. Cranially to the divided cord lay an unsplit segment of "open cord" lacking the posterior elements and exposing the centrally placed ependyma of the central canal flanked by glial and epidermal lining, respectively; it could be regarded as an example of a meningomyelocele. (2) Heterotopic massed ependymal cells, some of which were actively proliferating, were associated with the choroid plexus in the brain. Minor anomalies included cerebellar heterotopia and the malpositioning of dorsal root ganglia outside the meningeal sheath. Because the ependyma is such a powerful inducer of the development of neighboring tissue, the findings could be united by a common pathogenic theme, viz problematic ependymal development and migration within both the brain and spinal cord. The causative agent responsible for these abnormalities remains unidentified, but the balance of evidence suggests that its effect was felt during the second week of postconceptual age.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
2/36. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele.A fetus with lobar holoprosencephaly and lumbosacral meningomyelocele associated with duplication of the short arm of chromosome 3 is reported. The anomalies were detected on fetal ultrasound at 20 weeks' gestation and the autopsy findings correlated well with the prenatal findings. The fetal karyotype was 46,XY,der(3)del(3)(p26) dup(3)(p26p21.3). The association of holoprosencephaly with duplication 3p is well known, but to the best of our knowledge this is the first reported association of meningomyelocele with 3p duplication. These findings suggest that a gene or genes with a crucial role in central nervous system development are located on the short arm of chromosome 3.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
3/36. The split notochord syndrome with dorsal enteric fistula, meningomyelocele and imperforate anus.A male infant was referred to our department because of lumbosacral meningomyelocele, dorsal enteric fistula and imperforate anus. The mother had received a parenteral drug containing estradiol benzoate and progesterone for inducing abortion in the first trimester. She also used an anal pomade containing triamcinolone and lidocaine-HCl during the pregnancy for hemorrhoids. Sigmoid end colostomy was performed after meningomyelocele repair. On abdominal exploration a wandering spleen was detected but no other anomalies. Two months later, an abdominoperineal pullthrough was performed, and the patient was discharged well after three weeks. Our case is the sixth that had split notochord syndrome associated with dorsal enteric fistula and imperforate anus. Additionally, penoscrotal transposition and wandering spleen were present in this case. To our knowledge, these associated anomalies have been extremely rare.- - - - - - - - - - ranking = 0.19151434331988keywords = pregnancy (Clic here for more details about this article) |
4/36. Prenatal sonographic diagnosis of uterine rupture following open fetal surgery.BACKGROUND: Reported cases of uterine rupture diagnosed by ultrasound have shown fetal membranes ballooning through uterine rupture sites, or adjacent areas of hemorrhage. CASE: A 27-year-old gravida 3, para 2 had open fetal surgery to repair a fetal myelomeningocele at 28 weeks' gestation. Her postoperative course was complicated by threatened preterm labor and anhydramnios. At 33 weeks' gestation, with maternal symptoms of bowel obstruction, ultrasound showed a fetal leg and section of umbilical cord protruding through the uterine wall. CONCLUSION: Even in the presence of anhydramnios, uterine wall rupture was identified, because ultrasound evaluation of the uterine wall showed prolapsed fetal parts and umbilical cord. Persistent anhydramnios after open fetal surgery should prompt a search for uterine rupture.- - - - - - - - - - ranking = 2keywords = gestation (Clic here for more details about this article) |
5/36. Lethal pulmonary hypoplasia after in-utero myelomeningocele repair.BACKGROUND: In-utero surgical repair of fetal myelomeningocele has been performed as a means to improve the postnatal condition of affected infants. CASE: A nulliparous woman underwent in-utero surgical repair of a fetal lumbosacral myelomeningocele at 24 weeks' gestation. Her postoperative convalescence was complicated by pulmonary edema, abdominal pain, chronic oligohydramnios, and preterm labor. The infant was delivered by cesarean at 33 weeks' gestation, but expired from respiratory distress caused by pulmonary hypoplasia at 9 hours of age. CONCLUSION: Until the benefits of in-utero repair of fetal myelomeningoceles are determined by well-controlled clinical trials, this technique remains investigational. physicians and their patients who are considering this procedure must be fully aware of the potential risks that can occur.- - - - - - - - - - ranking = 2keywords = gestation (Clic here for more details about this article) |
6/36. Amniography in second trimester diagnosis of myelomeningocele.Twenty-eight fetuses, at 14-22 gestational weeks, were examined by amniography to identify a thoracic, lumbar, or sacral myelomeningocele. The end point was a fluoroscopic spot film with the fetal back in profile, to show the presence or absence of a bulging midline mass. Fetal irradiation was 0.66 rad /- 0.36 (SD). There were 26 true negatives and one indeterminate examination. The one true positive was in a patient who had just had negative real-time ultrasonography. It is suggested amniography be used (1) when ultrasonography and amniotic fluid alpha fetoprotein determination disagree about the presence of a neural tube defect, and (2) for further confirmation when both these tests are positive.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
7/36. prenatal diagnosis of a fetus with lumbar myelocystocele.We present a case of a fetal lumbar myelocystocele, a rare congenital malformation, characterized by herniation of the central canal through a bony spina bifida. Routine ultrasound examination at 11 weeks' gestation by the primary obstetrician showed a suspicious cyst on the fetal back. Initially, the suspected diagnosis was a meningocele. After sonographic detection of newly developed fetal brain anomalies at 22 weeks' gestation the patient was referred to us. The enlarged cyst, which floated freely in the amniotic fluid, had a funnel-like appearance and was covered by a very thin layer of skin. With the help of ultrafast fetal magnetic resonance imaging the diagnosis of a fetal myelocystocele was made.- - - - - - - - - - ranking = 2keywords = gestation (Clic here for more details about this article) |
8/36. prenatal diagnosis of terminal myelocystocele in the fetal surgery era: case report.OBJECTIVE AND IMPORTANCE: We report a case of a child with terminal myelocystocele (TMC). This case exemplifies the importance of performing a multidisciplinary evaluation and magnetic resonance imaging in the patient with suspected meningomyelocele when fetal surgery is being considered. CLINICAL PRESENTATION: This patient was evaluated at the Center for Fetal Diagnosis and Treatment and considered for fetal surgery to repair meningomyelocele. TECHNIQUE: A follow-up based on both ultrasound and magnetic resonance imaging was performed throughout pregnancy. CONCLUSION: Although a definitive diagnosis of TMC was not established prenatally, the patient was not offered fetal surgery, based on multiple selection criteria. We correlate the pathophysiology of TMC with the radiographic and amniocentesis findings. TMC must be considered in the differential diagnosis in a fetus with a dysraphic defect.- - - - - - - - - - ranking = 0.19151434331988keywords = pregnancy (Clic here for more details about this article) |
9/36. Vanishing cerebellum in myelomeningocoele.Reduced hindbrain herniation observed after intrauterine myelomeningocoele repair suggests that posterior fossa changes in myelomeningocoele are secondary results of prolonged prenatal spinal cerebrospinal fluid leak. Exceptionally, this transforaminal herniation results in 'degeneration' of cerebellar tissue, presumably due to mechanically induced ischaemia. This phenomenon was called 'vanishing cerebellum in Chiari II malformation'. We report three similar cases of this apparently rare finding. Pregnancies were normal. Cerebellar hypoplasia was already recognized in one instance by prenatal ultrasound at gestational week 25. Postnatal imaging was similar in all three patients showing small posterior fossa, beaked midbrain tectum, small brainstem without pontine prominence, reduced cerebellar tissue with virtual absence of one hemisphere and supratentorial hydrocephalus. Our series is too small to draw firm conclusions about predisposing risk factors for and consequences of vanishing cerebellum. Cerebellar damage can interfere with cognitive development, as shown in children with cerebellar agenesis/ hypoplasia, congenital ataxia and small cerebellum following prematurity. A final conclusion on the cognitive consequence of vanishing cerebellum cannot be drawn on the available literature and our limited observations, as one of our patients died at 3 months and another is still too young for appropriate testing. However, the third (aged 15 years) is very severely retarded.- - - - - - - - - - ranking = 1keywords = gestation (Clic here for more details about this article) |
10/36. Spinal lipoma misinterpreted as a meningomyelocele on antenatal MRI scan in a baby girl.INTRODUCTION: Antenatal screening for spina bifida with ultrasound and MR imaging is increasingly used. CASE REPORT: A baby girl's antenatal MRI examination showed features originally interpreted as a lumbar meningomyelocele. Repeat MRI examination soon after birth showed features of a spinal lipoma (lipomeningomyelocele). This was excised surgically and complete spinal cord untethering was achieved. CONCLUSION: As antenatal MR scanning is increasingly used, and fetal surgery is becoming more prominent, the correct interpretation of such images is crucial. We present a rare case of a misleading antenatal radiological diagnosis of spina bifida, which would have had severe implications if termination of the pregnancy or intra-uterine surgical repair had been considered.- - - - - - - - - - ranking = 0.19151434331988keywords = pregnancy (Clic here for more details about this article) |
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