Cases reported "Neural Tube Defects"

Filter by keywords:



Filtering documents. Please wait...

1/42. 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 = 1
keywords = upper
(Clic here for more details about this article)

2/42. 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 = 4.3494395727717
keywords = back
(Clic here for more details about this article)

3/42. 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 = 1
keywords = upper
(Clic here for more details about this article)

4/42. Intramedullary neurenteric cyst in mid thoracic spine in an adult: a case report.

    Neurenteric cysts are very rare, particularly in adults. These are congenital intraspinal cysts of endodermal origin. A 67 years old man, presenting with backache and paraesthesiae of one and half years' duration, followed by subacute flaccid paraplegia, developing in a week is described. MRI revealed intramedullary cyst at T7. He underwent emergency thoracic laminectomy and complete excision of the cyst. Histopathology confirmed a neurenteric cyst. In view of their rarity, peculiarity in terms of age, location and presentation, we report this case.
- - - - - - - - - -
ranking = 4.3494395727717
keywords = back
(Clic here for more details about this article)

5/42. An unusual cause of incontinence.

    BACKGROUND: Incontinence is the most common urological symptom of tethered cord syndrome and may present as the earliest sign of this condition. The presence of unexplained incontinence with spinal anomalies, low back and leg symptoms, should raise the suspicion of tethered cord syndrome and lead to a lumbar MRI study, even though only subtle neurological abnormalities are found. OBJECTIVE: This case acts as a timely reminder of the need to be familiar with adult tethered cord syndrome so that an appropriate diagnosis is made promptly. DISCUSSION: The two groups of tethered cord syndrome, group 1 and group 2, are briefly defined; this paper discusses the presenting history of a patient in the first group.
- - - - - - - - - -
ranking = 4.3494395727717
keywords = back
(Clic here for more details about this article)

6/42. A case of diastematomyelia associated with myeloschisis in a hemicord.

    We report a case of myeloschisis on the right hemicord in a patient with diastematomyelia. The patient was a female neonate with myeloschisis visible at birth in the upper lumbar region. Radiological examination, including three-dimensional CT and MRI, clearly revealed a bony septum as well as the myeloschisis on the right hemicord, which enabled us to make a precise preoperative diagnosis of this complex anomaly. Closure of the myeloschisis and removal of the septum were successfully accomplished in one stage to prevent subsequent infection and neurological deterioration. The presence of combined diastematomyelia and myeloschisis is consistent with the hypothesis of an ontogenic basis of development and emphasizes the importance of early imaging for diagnosis in this complex anomaly.
- - - - - - - - - -
ranking = 1
keywords = upper
(Clic here for more details about this article)

7/42. 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 = 0.81295350712174
keywords = headache
(Clic here for more details about this article)

8/42. Neuroradiologic-pathologic correlation in a neurenteric cyst of the clivus.

    A 28-year-old woman presented with left-sided frontotemporal headache lasting 6 wk. Head CT and MR imaging revealed a clival mass, which was interpreted as a chondrosarcoma. The lesion was removed at endoscopic endonasal surgery; histologic and immunohistochemical findings proved it to be neurenteric cyst. On CT scans, the lesion was lytic, with an intact cortex; it was uniformly hyperintense relative to gray matter on T1-weighted MR images and iso- to hypointense relative to CSF on T2-weighted MR images.
- - - - - - - - - -
ranking = 0.81295350712174
keywords = headache
(Clic here for more details about this article)

9/42. Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.

    Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
- - - - - - - - - -
ranking = 1
keywords = upper
(Clic here for more details about this article)

10/42. Thoracic diastematomyelia with concurrent intradural epidermoid spinal cord tumor and cervical syrinx in an adult. Case report.

    Diastematomyelia is a rare entity in which some portion of the spinal cord is split into two by a midline septum. Most cases occur in childhood, but some develop in adulthood. A variety of concurrent spinal anomalies may be found in patients with diastematomyelia. The authors describe a 38-year-old right-handed woman who presented with a 7-month history of lower-extremity pain and weakness on the right side. She denied recent trauma or illness. Sensorimotor deficits, hyperreflexia, and a positive Babinski reflex in the right lower extremity were demonstrated on examination. neuroimaging revealed diastematomyelia extending from T-1 to T-3, an expanded right hemicord from T-2 to T-4, and a C6-7 syrinx. The patient underwent T1-3 total laminectomies, resection of the septum, untethering of the cord, and excision of the hemicord lesion. The hemicord mass was determined to be an intramedullary epidermoid cyst; on microscopic evaluation the diastematomyelia cleft was shown to contain fibroadipose connective tissue with nerve twigs and ganglion cells. Postoperatively, the right lower-extremity pain, weakness, and sensory deficits improved. Diastematomyelia can present after a long, relatively asymptomatic period and should be kept in the differential diagnosis for radiculopathy, myelopathy, tethered cord syndrome, or cauda equina syndrome. Numerous spinal lesions can be found in conjunction with diastematomyelia. To the authors' knowledge, this is the first case in which a thoracic epidermoid cyst and cervical syrinx occurred concurrently with an upper thoracic diastematomyelia. Thorough neuraxis radiographic evaluation and surgical treatment are usually indicated.
- - - - - - - - - -
ranking = 1
keywords = upper
(Clic here for more details about this article)
| Next ->


Leave a message about 'Neural Tube Defects'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.