Cases reported "Neural Tube Defects"

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1/9. 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.
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2/9. 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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3/9. Posttraumatic sagittal osseous bar in the spinal canal of an adult: a case report.

    Diastematomyelia is a congenital anomaly wherein the distal spinal canal is bisected by a longitudinally oriented septum made up of fibrous tissue, cartilage, or bone. The main lesion is expressed by characteristic gait disturbances and dysfunction of the anal and vesical sphincters resulting from damage to the cord or cauda equina. Symptoms almost invariably begin during childhood. By the time symptoms appear, the damage is largely irreversible. In rare instances, the neuropathic expression of diastematomyelia is delayed until adult life. Only a dozen such cases have been reported. Described herein is the case of a patient in whom the typical symptoms appeared at 28 years of age. decompression laminectomy and resection of the septum relieved the symptoms completely and permanently. The pathogenesis of nerve damage in diastematomyelia is thought to be different in patients with adult-onset disease than in children. This could explain why surgical treatment has a better prognosis in adults.
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4/9. prenatal diagnosis of diastematomyelia.

    INTRODUCTION: Diastematomyelia, also termed split cord malformation, is a form of occult spinal dysraphism characterized by a cleft in the spinal cord. prenatal diagnosis of this anomaly is possible by ultrasonography (US), and fetal MRI can be used to diagnose the type of diastematomyelia precisely. Diastematomyelia can be isolated or associated with other dysraphisms, segmental anomalies of the vertebral bodies, or visceral malformations (horseshoe or ectopic kidney, utero-ovarian malformation, and anorectal malformation). We present three cases of fetal diastematomyelia investigated using a multimodal prenatal work-up (US, MRI, 3D-CT). CASES: The first case, detected at 20 weeks' gestation, had a lumbar meningocele. At 30 weeks' gestation, direct US visualization revealed the division of the spinal cord into two hemicords. This patient illustrates an isolated type II diastematomyelia with a favorable prognosis. The second case, detected at 22 weeks' gestation, presented with disorganization of bony process of the vertebral column with a midline echogenic bony spur, asymmetrical hemicords, and a foot malposition. Fetal MRI at 26 weeks' gestation and CT/3D reconstructed at 32 weeks' gestation confirmed a type I diastematomyelia with orthopedic malposition. The third case, detected at 22 weeks' gestation, presented with widening of the lumbar canal and scoliosis. Prenatal work-up (US, MRI) disclosed other visceral malformations (pelvic kidney), which led to the assumption of a complex polymalformative syndrome. The pregnancy was terminated. Fetopathologic examination disclosed even more visceral malformations (anal atresia and unicorn uterus).
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5/9. prenatal diagnosis of diastematomyelia in a 15-week-old fetus.

    OBJECTIVE: A case of prenatal diagnosis of diastematomyelia is presented. methods: A case of fetal diastematomyelia, diagnosed by prenatal sonography, demonstrated the typical sonographic features of this condition. In this case it was detected at 15 weeks of gestation, and presented with a midline echogenic focus in the posterior region of the thoracolumbar spine. RESULTS: The pregnancy was terminated by induction of labor. The fetus was female and there was a 1-cm long endurated hyperemic lesion at the back of the fetus. We confirmed the diagnosis of diastematomyelia after termination of pregnancy by plain chest and abdominal X-ray and also MRI scanning. CONCLUSION: 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. prenatal diagnosis of this anomaly is possible in the early mid-trimester by sonography, thus allowing for early surgical intervention and a favorable prognosis.
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6/9. Myxopapillary ependymoma and fatty filum in an adult with tethered cord syndrome: a shared embryological lesion? Case report.

    OBJECTIVE AND IMPORTANCE: Myxopapillary ependymoma and fatty fila are traditionally thought to arise via completely different pathophysiologies. Recognition of these distinct pathologies in the same patient is important for appropriate treatment and prognosis. CLINICAL PRESENTATION: A 28-year-old woman presented with low back pain, bilateral leg radiculopathies, and mild leg weakness suggestive of tethered cord syndrome. magnetic resonance imaging revealed lesions in the area of the conus medullaris consistent with a myxopapillary ependymoma and fatty filum. INTERVENTION: Under the surveillance of intraoperative electromyographic monitoring, the patient underwent an L4-S2 laminectomy for transection of the fatty filum and gross total resection of the mass. Histopathological examination confirmed the presence of these two distinct pathologies. CONCLUSION: We report an unusual case of a myxopapillary ependymoma coexisting with a fatty filum in an adult patient. To the best of our knowledge, this association has not yet been reported. This raises the interesting question of a possible associative or causative relationship between these distinct pathologies, which have traditionally been thought to arise from different mechanisms.
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7/9. New data on diastematomyelia.

    Five cases of diastematomyelia are described and illustrated. These and a further 60 cases from the literature are analyzed. The data corroborate the opinion that early diagnosis and treatment result in a better prognosis.
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8/9. Amniography in prenatal diagnosis.

    The increasing use of prenatal diagnostic methods, including sonography and amniotic fluid analysis, has made it possible to suspect certain fetal defects at an early gestational age. In selected cases, accurate diagnosis of the specific malformation may have an effect on fetal and neonatal prognosis, and on prenatal counseling of the parents. As part of a large regional screening program for neural tube defects, we performed 28 midtrimester amniograms. We found 14 neural tube defects (nine spina bifida, four anencephaly, one Meckel syndrome), four abdominal wall defects, two tumors, and eight normal examinations. Radiographic examples of these malformations are presented, including previously undescribed findings in meningomyeloceles. The place of amniography in prenatal diagnosis is discussed.
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9/9. Tectocerebellar dysraphia with posterior encephalocele (Friede): report of the youngest case. Reappraisal of the condition uniting Cleland-Chiari (Arnold-Chiari) and Dandy-Walker syndromes.

    This is a neuropathological report of the youngest case ever recorded of tectocerebellar dysraphia with posterior encephalocele. All previously described stigmata were ascertained as well as a few additional findings. Some morphological features of this syndrome similar to and some different from the dandy-walker syndrome and the Cleland-Chiari (Arnold-Chiari) anomaly are briefly discussed. Finally the possibility of clinical diagnosis and favourable prognosis of this syndrome are suggested.
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