1/55. prenatal diagnosis of unilateral megalencephaly by 2D and 3D ultrasound: a case report.Unilateral megalencephaly is a rare malformation of the central nervous system characterized by an overgrowth of one cerebral hemisphere due to an anomaly of neuronal cell migration. It shows macroscopic and histological alterations of the central nervous tissue. We report on a case of this malformation detected prenatally with the support of 3D ultrasonography.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/55. Fetal brain infection with human parvovirus B19.Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.- - - - - - - - - - ranking = 0.26552708229133keywords = nervous system (Clic here for more details about this article) |
3/55. 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 = central nervous system, nervous system (Clic here for more details about this article) |
4/55. Dandy-walker malformation: prenatal diagnosis and outcome.Prenatal ultrasound identified Dandy-Walker malformation (DWM) in ten singleton pregnancies with concurrent central nervous system (CNS) anomalies and extra-CNS anomalies in eight cases. DWM was confirmed by postnatal magnetic resonance imaging (MRI) or pathological examination in nine cases. Karyotypes were normal in the seven infants tested. Postnatal neurological and developmental testing in the five survivors showed a spectrum of clinical outcome from minor defects to severe handicap. Postnatal investigation also disclosed additional CNS and extra-CNS findings not detected on ultrasound, as did autopsy in the other five infants. However, ultrasound diagnosis of DWM is accurate and is an indication for exhaustive screening for concurrent anomalies both within and outside the CNS and in chromosome structure and number, as the prognosis is heavily dependent on associated malformations and karyotype.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/55. Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis.Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant diagnosed with ECCL at birth. The antenatal sonogram at 28 weeks of gestation showed normal intracranial structures; the sonogram at 38 weeks of gestation showed asymmetry of the cerebral hemispheres and ventriculomegaly. magnetic resonance imaging at age 6 weeks demonstrated a porencephalic cyst on the left, hemiatrophy of the left cerebrum with cortical dystrophy, and a lipoma in the middle cranial fossa. Histologic findings of the resected cutaneous lesion confirmed the presence of fibrolipoma hamartoma. This case offers a unique insight into the antenatal and postnatal development of the hamartoneoplastic lesions of ECCL, and it highlights the difficulties inherent in the antenatal sonographic diagnosis of hamartoneoplastic syndromes.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/55. Variability in the phenotypic expression of fryns syndrome: A report of two sibships.We report on two sibships with four fetuses of 12, 15, 17, and 20 weeks of gestation, respectively, and 1 preterm baby of 31 weeks of gestation affected by a multiple congenital disorder with manifestation suggestive of Fryns syndrome. In addition to the characteristic malformation pattern in Fryns syndrome, they presented with fetal hydrops, cystic hygroma, and multiple pterygias, allowing prenatal ultrasound diagnosis as early as in the 11th week of gestation. The two affected fetuses of family 1 showed severe craniofacial anomalies with bilateral cleft lip and palate, acral hypoplasia, postaxial oligodactyly, persistent truncus arteriosus, and interrupted aortic arch, asplenia sequence, and complex central nervous system midline malformations. In family 2 with three affected sibs, ear anomalies with atresia of the auditory canals, postaxial hexadactyly, intestinal atresias, callosal defects, and eye colobomas were the most outstanding features. On the basis of the present findings and former reports, the inter- and intrafamiliar phenotypic variability in Fryns syndrome, possible pathogenetic mechanisms, and the value of prenatal diagnosis are discussed. In the pathogenetic discussion, a special emphasis is put on the neural crest cell developmental field.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/55. Fetal seizures: case report and literature review.We report a case of fetal seizures secondary to lissencephaly. Among the 13 published cases of fetal seizures, including ours, diagnosed at a mean gestational age of 35.5 weeks (range 20-42), a fetal heart rate tracing was available in ten and showed a normal pattern in three, low variability in two and repetitive decelerations or bradycardia in five. The most common cause of fetal seizures was congenital anomalies (seven of 13), mainly of the central nervous system (six of seven). Outcome among the 11 liveborn neonates included death by 6 months of age in eight cases, and mental or motor delay in three.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/55. A case of prenatally diagnosed fetal neurenteric cyst.The combination of a thoracic cystic mass with vertebral anomalies on prenatal ultrasound suggests a neurenteric cyst. The outcome of such cysts mostly depends on the extent of the displacement and functional impairment of the adjacent organs and of the associated central nervous system defects. We present a case of a neurenteric cyst diagnosed on prenatal ultrasound at 34 weeks of gestation which was treated successfully in the early neonatal period.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/55. Bilateral subpleural ectopic brain tissue in a 23-week-old fetus.Bilateral lesions were seen in the subpleural region in a 23-week-old aborted male fetus. This fetus was not macerated and showed no central nervous system abnormality on physical examination and vertebral magnetic resonance imaging (MRI). Postmortem examination revealed bilateral, paravertebral, subpleural, circumscribed, yellowish-white, fluent lesions 2.5 x 1 x 1 cm in size. These lesions were localized on the upper part of both lungs and there was no other internal malformation. Histological examination of lesions showed adult neurones and well-differentiated neural tissue with white and gray matter, choroid plexus, ependymal structures and, rarely, some peripheral neural cells in addition to immature neuroectodermal cells. These cells were more mature than those in the brain tissue.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/55. Mild ventriculomegaly as a counselling challenge.OBJECTIVE: Our purpose was to evaluate the outcome of a group of fetuses with mild ventriculomegaly. methods: We retrospectively collected all cases of antenatally diagnosed mild enlargement of the lateral cerebral ventricles (transverse diameter of the atrium between 10 and 15 mm) between 1992 and 1997. Cases were included in the study if no other ultrasonic anomalies (including soft markers) were found. TORCH screening, karyotyping, search for associated anomalies and neurological examination (including imaging) were performed. Outcome information was available for all cases up to 30 months. RESULTS: Fourteen cases were examined. TORCH was always negative, 1 case with a microdeletion of chromosome 1 was identified. During the course of pregnancy, 2 fetuses showed progression to frank hydrocephalus. Five cases of agenesis of the corpus callosum, 1 of lissencephaly and 1 of heterotopia were eventually diagnosed. After birth 2 syndromes were identified. Three babies died during the follow-up period, among the survivors 4 had severe neurological damage, 2 of them had no associated dysmorphic findings. DISCUSSION: A heterogeneous group of central nervous system disorders may manifest antenatally as mild ventriculomegaly. The current management may not be able to identify dangerous conditions that present subtle dysmorphic features, or be able to predict abnormal outcome in most of the cases.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
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