Congenital thoracic cord segmental amyelia: a rare manifestation of segmental spinal dysgenesis

Segmental spinal dysgenesis (SSD) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop properly. We report a case of a 4-year-old female child who was born prematurely with a permanent neurological deficit in the lower limbs and sphincter incontinence. Radiological investigations revealed segmental agenesis of the thoracic spinal cord (D8-D11 vertebral levels) with an associated vertebral bony anomaly. The pathogenesis of this rare form of SSD syndrome is discussed and the relevant literature is briefly reviewed.     

Magnetic resonance imaging of spinal cord disease of childhood

Correct diagnosis of spinal cord disease in childhood is often delayed, resulting in irreversible neurologic deficits. A major reason for this delay is the lack of a reliable means to noninvasively visualize the spinal cord. Magnetic resonance imaging (MRI) should be useful in the evaluation of diseases of the spinal cord. A 1.5 Tesla MRI unit with a surface coil was used to study 41 children, including eight patients with intrinsic spinal cord lesions, eight patients with masses compressing the cord, 12 patients with congenital anomalies of the cord or surrounding bony structures, three patients with syrinxes, and three patients with vertebral body abnormalities. Intrinsic lesions of the cord were well seen in all cases as intrinsic irregularly widened, abnormally intense cord regions. MRI was helpful in following the course of disease in patients with primary spinal cord tumors. Areas of tumor were separable from syrinx cavities. Extrinsic lesions compressing the cord and vertebral body disease were also well visualized. Congenital anomalies of the spinal cord, including tethering and lipomatous tissue, were better seen on MRI than by any other radiographic technique. MRI is an excellent noninvasive "screening" technique for children with suspected spinal cord disease and may be the only study needed in many patients with congenital spinal cord anomalies. It is also an excellent means to diagnose and follow patients with other forms of intra- and extraspinal pathology.     

Developmental stenosis of the cervical spine in children

Developmental stenosis of the cervical spine results in a reduction of the caliber of the cervical spinal canal that is greatest in the anteroposterior dimensions. This usually becomes symptomatic in adults when a myelopathy may result from compression of the cervical cord by small osteophytes or by hyperextension injury without fracture or dislocation. Although incidence and prevalence data are not available, this condition does occur in the pediatric population since we have encountered three adolescents with this condition. The diagnosis of cervical spinal stenosis can be suggested when narrowing of the sagittal diameter of the spinal canal on a lateral cervical radiograph is identified. Subsequent corroboration can be obtained with myelography, computed tomography, or magnetic resonance imaging.     

Intramedullary spinal neurenteric cyst with fluid-fluid level

Spinal neurenteric cysts are rare intradural extramedullary lesions of the spine, commonly located in the cervical and thoracic regions. The majority localize ventral to the spinal cord and are associated with other vertebral anomalies. Here, the authors report a rare case of a 3-year-old boy presenting with a 1-week history of meningismus followed by rapid-onset (over a few hours) paraplegia. Magnetic resonance imaging revealed an intramedullary cystic lesion with a fluid-fluid level in the cervicothoracic region of the spinal cord without associated bony or soft tissue abnormalities. To the best of the authors' knowledge, such clinical and radiological presentation of a spinal neurenteric cyst has never been reported. A brief review of the pertinent literature is presented, and the possible pathophysiology of such a presentation is also discussed.     

Utility of spinal MRI in children with anorectal malformation

Background  The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. Objective  To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. Materials and methods  A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. Results  The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Conclusion  Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion.     

Spinal aneurysmal bone cyst causing acute cord compression without vertebral collapse: CT and MRI findings

Aneurysmal bone cyst (ABC) of the spine can cause acute spinal cord compression in young patients. We report the CT and MRI findings in a histology-proven case of spinal ABC presenting with sudden paraplegia. Typical features of a spinal ABC at the thoracic level with considerable extension into the posterior epidural space and cord compression were demonstrated. Special note was made of the disproportionately large longitudinal extent of the epidural component of the lesion. Associated vertebral collapse was absent. A fracture of the overlying cortex had probably allowed the lesion to decompress and track along the epidural space without significantly jeopardizing integrity of the osseous structures. This case illustrates a less frequently recognised mechanism of acute spinal cord compression by ABC.     

Traumatic spinal cord injury: unusual recovery in 3 children

We report on 3 children with traumatic spinal cord injury. All of them had normal x-rays of the vertebral column. There were no abnormalities of the spinal cord in myelography or magnetic resonance imaging. Although these situations are often associated with a poor neurological prognosis, we observed very unusual recoveries in these 3 cases.     

Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?

On the basis of two recently studied human fetuses and the historical records and remnant 19th century skeletons in the Museum Vrolik in Amsterdam, we have begun an analysis of an unusual form of somite dysgenesis. This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual colonic atresia, abdominal wall and diaphragmatic defect, Central nervous system abnormality with large head, and severe neurohypotrophic lower limb deformities. This study suggests the existence of an axial vertebral/costal dysgenesis complex with apparently or nearly normal number of cervical vertebrae. There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted.     

Recurring polysomatic hemangiomatosis: a new syndrome?

Systemic hemangiomatosis is extremely rare in adolescents and adults. The authors describe a 37-year-old man with a history of hepatic, splenic, cerebral, and multiple recurring osseous hemangiomas since age 14. After a 9-year period without disease progression, the patient presented with an acute bilateral lower extremity myelopathy. This was secondary to a T11 vertebral hemangioma that compressed the spinal cord. A 2-week course of radiation therapy failed to alleviate the patient's symptoms. Successful T11 vertebrectomy was then performed to decompress the spinal cord. The many organs and serially involved bones may represent a distinct variant of hemangiomatosis not previously described in the literature.     

脊髓栓系综合征合并脊柱、脊髓畸形临床研究

目的探讨脊髓栓系综合征的特征及与脊柱、脊髓畸形的相关性和治疗适应证。方法1989年10月～2003年7月收治脊髓栓系综合征321例。应用Kendall等级相关检验分析手术年龄与术后功能改善的关系。比较临床表现、影像学所见、术中所见和随访结果。结果321例患者中，294例合并有腰骶段脊柱裂，85例合并先天性脊柱侧弯，114例合并硬膜内或外脂肪瘤，76例合并脊髓空洞，63例合并脊髓纵裂，4例合并双重脊髓。主要术式包括：椎板切除、脊髓及神经根粘连松解、终丝切断、脂肪瘤切除、纵隔切除、硬膜重建。对先天性脊柱畸形同时行脊柱后路植骨融合加内固定78例，未行内固定而单纯行植骨融合34例。结论神经症状改善程度与手术年龄相关，年龄越小，改善越明显；肢体运动感觉障碍、上神经源性膀胱和脊柱变形手术治疗效果明显；而下神经源性膀胱、直肠功能障碍和足部畸形改善不明显。     

儿童胸腰椎骨折脱位的外科治疗

目的 探讨儿童胸腰椎骨折脱位的伤情特点及椎弓根钉固定手术方法与疗效.方法 自2000年1月至2007年12月,对15例胸腰椎骨折脱位并伴有不同程度脊髓神经损伤的患儿,男11例,女4例.年龄5～12岁,平均7岁8个月,采用胸腰椎后路复位、减压,同时行椎弓根钉系统内固定术.结果 15例患儿术后随访10～48个月,平均32个月,术后X线检查显示伤椎高度恢复50%～80%,脊椎脱位都得到纠正,椎弓根钉位置好,未见松动、断裂.无一例发生血管损伤及感染.术前不同程度的脊髓神经损伤症状除了2例全瘫患儿无恢复外,其他病例在术后均得到不同程度的恢复.结论 儿童胸腰椎骨折脱位属于高能量损伤,创伤严重,常伴有不同程度脊髓神经损伤及合并伤;椎弓根钉固定治疗儿童胸腰椎骨折脱位是一种安全、可行方法,达到重建脊柱稳定性,解除脊髓神经受压,便于术后护理及提高患儿生活质量.     

The association of spinal and gastroesophageal anomalies. Case report and review

Severe cervical radiculopathy occurred in a child with gastroesophageal duplication who had a previously unrecognized vertebral malformation. We review the literature on the association of vertebral and gastroesophageal anomalies and discuss the recent studies in human embryology which detail the relations of notochord to endoderm and neural ectoderm at about 3 weeks of gestation. This case illustrates the opportunity of preventing nerve root or spinal cord compromise due to such vertebral anomalies when the possibility of their association with gastroesophageal duplication is considered.     

Skeletal dysplasia and myelopathy in congenital disorder of glycosylation type IA

We report on a boy with a congenital disorder of glycosylation (CDG) Ia and a severe narrowing of the spinal canal caused by atlantoaxial subluxation with anterior displacement of C1. C1-laminectomy improved the progressive paresis. Progressive paresis caused by spinal cord compression is a hitherto unrecognized complication in patients with CDG-Ia.     

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases with severe cervical spinal canal narrowing documented by radiography, magnetic resonance imaging (MRI), and autopsy. In all, nine cases of CDPX1 with severe cervical spinal cord compression have now been described. Because these cases account for a large proportion of all reported CDPX1 cases, we believe that an antenatal suspicion of CDPX1 should lead to genetic counseling and to investigations for spinal cord compression. After birth, this complication must be routinely anticipated, and we suggest spinal MRI in all CDPX1 infants. Unless spinal cord compression is confidently ruled out, we recommend that these newborns receive the same care as trauma patients suspected of craniocervical junction disruption. No conflicts of interest occurred for this work.     

Diastématomyélie : diagnostic anténatal. À propos de deux observations

Diastematomyelia is a rare form of spinal dysraphism characterized by a sagittal cleft in the spinal cord. It may be isolated or associated with segmental anomalies of the vertebral bodies. Prenatal diagnosis of this malformation is possible by sonography and MRI, thus allowing for early surgical intervention and a favorable prognosis. Two cases of fœtal diastematomyelia are presented, each demonstrating the sonographic and MRI features diagnostic of this condition.     

ACQUIRED SPINAL CORD INJURY IN HUMAN FETUSES WITH MYELOMENINGOCELE

Experimental studies have shown that there is a potential to attempt in utero repair of myelomeningocele in human fetuses. To provide a better understanding of the pathology of these lesions we prospectively studied eight stillborn human fetuses with myelomeningocele autopsied at The Johns Hopkins Hospital. The intact vertebral column with surrounding structures was removed, processed as a single block, and prepared as serial histologic sections. Study of the slides showed in all cases that in the center of the myelomeningocele the vertebral arch was open, the arrangement of meninges was such that the dura mater was open and in continuity with the deep layers of the dermis, and the pia mater was open and in continuity with a layer consisting of the superficial dermis and the epidermis. These meningeal relationships created an abnormally configured arachnoid space containing cerebrospinal fluid ventral to the spinal cord, which rested on the open pia mater and was exposed on the dorsal aspect of the sac. At the level of the myelomeningocele the naked cord had undergone varying degrees of injury up to complete loss of neural tissue. Where ventral remnants of the cord remained it was evident that a large degree of normal development of the cord had occurred. In most instances it appeared that the injury or destruction of the dorsal spinal cord was recent and consistent with occurrence during delivery. The results of this study support the concept that in utero surgery could preserve and protect the exposed spinal cord in a myelomeningocele of a human fetus and thus could reduce the severity of the neurologic deficit at birth.     

Vertebral osteomyelitis in an infant presenting with pseudotumor and narrowing of the spinal canal

In an 8-week-old infant, kyphosis caused by destruction of the 7th thoracic vertebra was observed. A paraspinal mass and narrowing of the spinal canal due to vertebral osteomyelitis were present. Treatment with antibiotics and bracing was carried out with no evidence of neurologic disturbances over a follow-up period of 24 months.     

Pseudopseudohypoparathyroidism with spinal cord compression

We describe a patient with pseudopseudohypoparathyroidism who had an osseous tubercle on the anterolateral margin of the foramen magnum causing compression of the spinal cord. This patient had no evidence for any endocrinopathies and had no other spinal canal anomalies. We suggest that the morphologic phenotype found in patients with pseudopseudohypoparathyroidism, also known as Albright's hereditary osteodystrophy, has an associated risk for spinal cord compression due to congenital vertebral anomalies. The poor recovery of neurologic function following spinal decompression mandates prompt recognition and therapy of this condition in patients with Albright's hereditary osteodystrophy.     

Spinal cord compression by vertebral hemangioma

Asymptomatic vertebral hemangiomas occur frequently in adults but the discovery of a similar lesion in the pediatric age group is uncommon. A case which involves all the neural arch components with resultant spinal cord compression is rare and is reported with a review of pertinent literature.     

Seat belt syndrome. Acute spinal cord injury due to incorrect use of two-point seat belts

Traumatic spinal cord injury (SCI) is a rare entity in the pediatric age group. These injuries are mainly caused by road traffic accidents (RTA), especially in children not wearing a seat belt. The use of child safety devices such as seat belt restraints has decreased morbidity and mortality in RTA but their incorrect use can also produce serious injuries that are grouped under the term "seat-belt syndrome". This syndrome associates vertebral and spinal cord injuries, intra-abdominal, cutaneous, and muscle-skeletal lesions. We present three patients with complete spinal cord and intra-abdominal injuries, requiring urgent surgery in two of them. On examination, all three patients had seat belt marks on the lower abdominal region. The three patients can be included in this syndrome and its main cause was the use of a two-point seat belt.