1/35. 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 = brain (Clic here for more details about this article) |
2/35. 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 = brain (Clic here for more details about this article) |
3/35. Sonographic diagnosis of exencephaly: omphalocele at 11 weeks of gestation.This report presents a sonographic diagnosis of exencephaly combined with omphalocele at 11 weeks of gestation. The transvaginal ultrasound showed frog-eye appearance face with no skull, abnormal shape of disorganized brain with covering membrane separated from brain mass by anechoic fluid in some area, and omphalocele of 8 mm diameter. Therapeutic abortion was successfully done with misoprostol. Postabortal macroscopic findings confirmed the prenatal diagnosis. The combination of exencephaly and omphalocele is rare, and this is one of the earliest diagnosis of not only exencephaly but also omphalocele. To our best knowledge, this represents the earliest diagnosis of the combination. In conclusion, transvaginal ultrasound proved highly informative for both exencephaly and omphalocele as early as in first trimester.- - - - - - - - - - ranking = 2keywords = brain (Clic here for more details about this article) |
4/35. 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 = 8.7983140173717keywords = central nervous system, nervous system (Clic here for more details about this article) |
5/35. 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 = 18.596628034743keywords = central nervous system, nervous system, brain (Clic here for more details about this article) |
6/35. Neurenteric cyst with alteration of signal intensity on follow-up MR images.SUMMARY: Intracranial neurenteric cysts are uncommon and usually have low intensity on T1-weighted MR images and high intensity on T2-weighted MR images. We report a case of a neurenteric cyst that was situated in front of the medulla oblongata and the size of which increased with alteration of MR signal from high to isointense compared with that of brain on T1-weighted images obtained 33 months after the initial MR images. We think that the signal change of the cyst was probably caused by a change of protein concentration.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
7/35. 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 = 8.7983140173717keywords = central nervous system, nervous system (Clic here for more details about this article) |
8/35. In utero MR imaging and management of foetal hydrocephalus and NTDs in the third trimester.Although ultrasound (US) remains the gold standard in foetal imaging, in utero magnetic resonance (MR) imaging of the foetal nervous system may be useful in the late stages of pregnancy. The authors performed MR scanning in pregnant women in whose foetuses US examination had shown hydrocephalus and neural tube defects (NTDs). These cases are definitely diagnosed as hopeless at such a late stage. In this report, three pregnant patients are presented to illustrate the morphological imaging features, and their outcome is discussed. This report is an example of how radiological investigations can be most valuable, when US and MR imaging are used as complementary in imaging of the foetuses.- - - - - - - - - - ranking = 2.1115264741191keywords = nervous system (Clic here for more details about this article) |
9/35. recurrence of a neurenteric cyst with malignant transformation in the foramen magnum after total resection. Case report.A 53-year-old man presented with recurrence of a neurenteric cyst with malignant transformation in the foramen magnum 3.5 years after total resection of the original tumor had been reported. For 2 years following the initial surgery, the patient had been in good condition, but then underwent ventriculoperitoneal shunt placement for intracranial hypertension. At the time there was no evidence of recurrence of the tumor on magnetic resonance (MR) images. One and one-half years later, he presented with headache and anorexia. A massive recurrent tumor was identified on MR images. The tumor was severely adhesive to the brainstem, cranial nerves, and vessels, allowing only partial resection. Histological examination of tumor specimens obtained during the first and second craniotomies indicated a malignant change from a typical neurenteric cyst with a one-layer epithelium in the first specimen to an adenocarcinoma with papillary proliferation in the second. The results of various immunohistochemical studies of the first specimen were typical of those of a neurenteric cyst. The second specimen displayed stronger staining of carbohydrate 19-9 and carcinoembryonic antigens than the initial specimen. The percentage of ki-67 antigen (MIB-1)-positive cells increased from 0% in the first specimen to 6.7% in the second. To the authors' knowledge this is the first case in which malignant transformation has been demonstrated after total resection of a neurenteric cyst in the foramen magnum.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
10/35. Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings.Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar hypoplasia and vertebral segmentation anomalies. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with Wildervanck syndrome. This case is presented with MR images. Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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