Cases reported "Neural Tube Defects"

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1/146. 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.
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2/146. Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region.

    Studies in mouse, chicken and xenopus have shown that Slug is selectively expressed in the dorsal part of the developing neural tube. Ablation and antisense experiments in chicken suggest that Slug may be an important factor during neural tube closure. We therefore investigated the role of Slug as a possible candidate contributing to the aetiology of neural tube defects (NTD) in humans. We characterised the genomic structure of human SLUG including determination of the exon-intron boundaries. The coding sequence of SLUG was screened for mutations in 150 patients with NTD using single strand conformation analysis (SSCA). In one patient, we identified a missense mutation 1548C-->A in exon 2 causing an exchange of a conserved amino acid (D119E) in the Slug subfamily-defining region preceding the first zinc finger. This is the first description of a human mutation in the SLUG gene. In accordance with the findings in model organisms, the SLUG mutation may be causally related to the development of NTD in our patient and could be considered as a predisposing factor.
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3/146. Tethered cord syndrome in adults.

    adult onset of tethered cord syndrome is a rare pathologic entity. Its treatable nature makes early diagnosis and timely surgical intervention important goals. Because of present referral patterns, adult patients with tethered cord syndrome may present initially to their primary care physician. We present a recent representative case of adult-onset tethered cord syndrome, with emphasis on initial complaints and the symptom constellation relevant to the primary care physician. Thorough clinical history and physical examination should direct investigators to include tethered cord syndrome in the differential diagnosis of select patients.
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keywords = cord syndrome, cord
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4/146. spinal cord tethering associated with amniotic band syndrome.

    amniotic band syndrome (ABS) comprises fetal morphological abnormalities that may be associated with fibrous amniotic bands that damage developing fetal parts resulting in cutaneous scars, erosions and ulcerations, digital constricting bands, craniofacial and visceral anomalies. Multiple asymmetric encephaloceles and anencephaly are neural-tube-like defects previously reported with ABS. This is the first report of spinal dysraphism with dorsal spinal cord tethering associated with ABS. We examine the pathogenetic theories of ABS in light of this report.
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5/146. Myolipoma in a tethered cord. Case report and review of the literature.

    The intradural myolipoma is a very rare tumor, consisting of fully differentiated striated muscle fibers mingled with fat. Only four previous cases have been identified. The authors present a case in which this tumor was associated with a symptomatic tethered spinal cord in an 18-year-old man.
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6/146. 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.
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7/146. 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.
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8/146. Primary tethered cord syndrome: diagnosis and treatment of an insidious defect.

    Failure to recognize the signs and symptoms of tethered cord syndrome in patients with spina bifida occulta can result in tragic consequences. Of patients with tethered spinal cord, 35% have bowel and/or bladder dysfunction. scoliosis, foot or leg length discrepancies, pes cavus, and varus or valgus deformities also can occur. Early assessment and intervention by the neuroscience nurse who is familiar with these clinical signs can help prevent significant deformities and irreversible neurological deficits.
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ranking = 2153.0192591864
keywords = cord syndrome, cord
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9/146. Body stalk anomaly in monozygotic twinning: a case report.

    We describe a case of concordant body stalk anomaly in a monozygotic twin. autopsy of the fetus showed abnormalities compatible with the maldevelopment of embryonic folding. Abdominal viscera were in a sac covered by the amnion and were attached directly to the placenta. The anus was not visible and no discernible external genitalia were noted. Other findings included a neural tube defect and a rectal duplication as an enteric cyst. umbilical cord had only one vein and an artery. No abnormalities were found on pathologic examination of the placenta. Although we encountered cases previously with gastroschsis and omphalocele, this was the first case of body stalk anomaly that we recognized as an enteric cyst, which is extremely rare in twins.
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10/146. F wave monitoring during surgery for adult tethered cord syndrome--a case report.

    We would like to report our first attempt in intraoperative study of F wave response electromyography (EMG) to monitor the spinal motor function during a spinal surgery for excision of a giant lumbosacral lipoma.
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ranking = 1721.6154073491
keywords = cord syndrome, cord
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