1/88. Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/88. Extraspinal dural arteriovenous fistula in a patient with lipomyelodysplasia: value of MRI and MRA.Spinal dural arteriovenous fistulae are extremely rare in spinal dysraphism. A fistulous malformation within a lipomyelomeningocele has not been reported previously. A 50-year-old man presented with progressive paraparesis and bladder dysfunction. MRI revealed a large lumbar lipomyelomeningocele. A vascular malformation was indicated by abnormal signal in the thoracolumbar spinal cord and dilated perimedullary veins. Phase-contrast MRA demonstrated only the slow-flow veins of the fistula and an intradural ascending vein. Contrast-enhanced ultra-fast MRA gave excellent delineation of all parts of the fistula within the dysraphic lesion.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
3/88. Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with x-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD.- - - - - - - - - - ranking = 4keywords = malformation (Clic here for more details about this article) |
4/88. Iniencephaly: prenatal diagnosis and management.Iniencephaly is a rare malformation characterized by the triad of occipital bone defect, cervical dysraphism and fixed retroflexion of the fetal head. Because of its almost invariable lethal prognosis, termination of pregnancy is commonplace when this condition is diagnosed before viability. In this report we describe eight cases of iniencephaly prenatally diagnosed by ultrasound between 18 and 28 weeks of gestation and discuss the subsequent obstetric management in a country where elective abortion is illegal. Prenatal karyotyping was performed in seven cases, revealing a normal complement in all fetuses. One pregnancy miscarried at 24 weeks. Uneventful vaginal delivery was accomplished in six of the remaining seven cases, one delivered spontaneously at 29 weeks and five were induced between 28-32 weeks due to increasing polyhydramnios. In the remaining case the pregnancy progressed to 35 weeks, at which time spontaneous labour began and an emergency Caesarean section was performed because of malpresentation. There were no survivors in this series. We conclude that, in countries were elective abortion is not allowed, women carrying an iniencephalic fetus may benefit from preterm induction of labour in order to avoid labour dystocia, maternal trauma during delivery and the risks of a Caesarean section.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
5/88. neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.neural tube defects (NTD) are common findings in the 13q deletion syndrome, but the relationship between the 13q- syndrome and NTDs is poorly understood. We present a child with a 13q deletion and lumbosacral myelomeningocele. This was a boy with microcephaly, telecanthus, minor facial anomalies, and ambiguous genitalia. Cytogenetic and fluorescence in situ hybridization analysis showed a de novo 46,XY,del(13)(q33.2-->qter) with no visible translocation. By using microsatellite markers, the deletion breakpoint was mapped to a 350-kb region between D13S274 and D13S1311 and was paternal in origin. An analysis of 13q deletions with NTDs, including the present case, suggests that a deletion in 13q33-34 is sufficient to cause an NTD. The deletions associated with NTDs are distal to and nonoverlapping with the previously defined critical region in 13q32 for the major malformation syndrome [Brown et al., 1999: Am J Hum Genet 57: 859-866]. Our analysis also suggests that one or more genes in 13q33-34 produces NTDs by haploinsufficiency.- - - - - - - - - - ranking = 0.5keywords = malformation (Clic here for more details about this article) |
6/88. Prenatal ultrasound evaluation of fetal diastematomyelia: two cases of type I split cord malformation.Isolated diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord, conus medullaris and/or filum terminale with splaying of the posterior vertebral elements. This condition is the result of the presence of an osseous or fibrocartilaginous septum producing a complete or incomplete sagittal division of the spinal cord into two hemicords. It may be isolated or associated with other segmental anomalies of the vertebral bodies. prenatal diagnosis of this anomaly is possible in the early midtrimester by sonography, thus allowing for early surgical intervention and a favorable prognosis. Two cases of fetal diastematomyelia diagnosed by prenatal sonography are presented, each demonstrating the typical sonographic features diagnostic of this condition. The first case, detected at 28 weeks' gestation, presented with disorganization of the bony processes of the vertebral column with a midline echogenic focus. The second fetus, diagnosed at 17 weeks' gestation, had a similar appearance with widening of the posterior elements and the presence of a midline echogenic bony spur. Postnatally, both infants underwent magnetic resonance imaging for a definitive diagnosis. Surgical repair of the defect was performed in the neonatal period in both cases.- - - - - - - - - - ranking = 2keywords = malformation (Clic here for more details about this article) |
7/88. Split cord malformation with diastematomyelia presenting as neurogenic claudication in an adult: a case report.STUDY DESIGN: This is a report of a rare presentation of a split cord malformation with diastometamyelia. OBJECTIVES: This report draws attention to the fact that the only manifestation of diastmetamyelia in the adult patient may be neurogenic claudication. SUMMARY OF BACKGROUND DATA: patients with split cord malformations and diastometamyelia rarely have symptomatic onset in adulthood. When present, a traumatic event leading to an acute neurologic change is the usual presentation. methods: An adult patient presented with symptoms of neurogenic claudication in the left leg. magnetic resonance imaging examination showed a split cord malformation and diastometamylia at L3-L4 with spinal stenosis of the left hemicord. Decompressive laminectomy and subtotal resection of the bony spur were performed. RESULTS: Two years after decompression, the patient has complete resolution of his leg symptoms and is back to work. CONCLUSIONS: Neurogenic claudication without any objective neurologic deficit or neurocutaneous stigmas of an underlying spinal cord abnormality may be the only presentation in the adult with diastometamyelia. decompression to relieve both clinical and radiologic evidence of spinal stenosis obtained excellent outcome.- - - - - - - - - - ranking = 3.5keywords = malformation (Clic here for more details about this article) |
8/88. Prosencephalic commissures dysgenesis combined with spinal neural tube defects.The neuropathological picture of four cases of prosencephalic malformations coexisting with spinal dysraphic anomalies inclined us to discuss the nosological position of these abnormalities. The hypoplastic anomalies of prosencephalic commissures combined with well-cleaved (except for basal ganglia) brain hemispheres allow to think of failure within lamina terminalis. The observations support the opinion that described malformations are consequence of abnormal planning of prosencephalic formation. Our description testifies ones more that as a result of prolonged time of injury a complex picture of developmental anomalies is noted.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
9/88. Rudimentary meningocele: remnant of a neural tube defect?BACKGROUND: Rudimentary meningocele, a malformation in which meningothelial elements are present in the skin and subcutaneous tissue, has been described in the past under a variety of different terms and has also been referred to as cutaneous meningioma. There has been debate as to whether rudimentary meningocele is an atretic form of meningocele or results from growth of meningeal cells displaced along cutaneous nerves OBJECTIVE: We reviewed the clinical, histological, and immunohistochemical characteristics of rudimentary meningocele in an attempt to assess the most likely pathologic mechanism for it. DESIGN: Retrospective study. SETTING: University hospitals. patients: Thirteen children with rudimentary meningocele. MAIN OUTCOME MEASURES: medical records were reviewed and histopathologic examination as well as immunohistochemistry studies were performed for each case. A panel of immunoperoxidase reagents (EMA, CD31, CD34, CD57, S-100, and CAM 5.2) was used to assess lineage and to confirm the meningothelial nature of these lesions. RESULTS: Recent evidence indicating a multisite closure of the neural tube in humans suggests that classic meningocele and rudimentary meningocele are on a continuous spectrum. CONCLUSION: Rudimentary meningocele seems to be a remnant of a neural tube defect in which abnormal attachment of the developing neural tube to skin (comparable to that in classic meningocele) could explain the presence of ectopic meningeal tissue. In the majority of cases, no underlying bony defect or communication to the meninges could be detected. However, in light of the probable pathogenesis, imaging studies to exclude any communication to the central nervous system should precede any invasive evaluation or intervention.- - - - - - - - - - ranking = 0.54807791394921keywords = malformation, nervous system (Clic here for more details about this article) |
10/88. valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.Fetal Valproate syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.- - - - - - - - - - ranking = 0.096155827898423keywords = nervous system (Clic here for more details about this article) |
| | Next -> |