Diagnosis of Atlantoaxial Subluxation in Morquio's Syndrome and Spondyloepiphyseal Dysplasia Congenita

Compression of the spinal cord due to atlantoaxial subluxation was diagnosed in a patient with Morquio's syndrome and in another with spondyloepiphyseal dysplasia (SED) congenita by cervical radiography and magnetic resonance imaging (MRI). The patient with Morquio's syndrome, a 15 year old boy, had no neurologic symptoms and his somatosensory evoked potential (SSEP) was normal. However, MRI demonstrated spinal cord compression at C1-C2. In contrast, the patient with SED congenita, an 11 year old girl, had neck pain, hyperreflexia and loss of vibration sense in both legs. These findings were explained by the absence of P3 and later waves in SSEP and by compression of the spinal cord observed on MRI. Both SSEP and MRI should be used for evaluating disorders in which atlantoaxial subluxation might be present.     

Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia

Children with achondroplasia may have high cervical myelopathy due to stenosis of the cranio-cervical junction resulting in neurological disability and an increased rate of sudden death. To detect myelopathy we recorded somatosensory evoked potentials (SEPs) after median nerve stimulation in 30 patients with achondroplasia aged 13 months to 18 years (mean 6 years). In addition to the conventional technique of recording the cortical N20 and the central conduction time (CCT), we employed a noncephalic reference electrode recording the subcortical waveforms N13b and P13, generated near the cranio-cervical junction. The findings were related to the clinical status and MRI results. Eighteen patients had MRI evidence of spinal cord compression with indentation or narrowing of the upper cervical cord, and 13 showed signs of myelomalacia. Seven patients had neurological abnormalities. The sensitivities of the SEPs were 0.89 for cervical cord compression, 0.92 for myelomalacia and 1.0 for the clinically symptomatic patients. There were no false-positive results. The subcortical SEPs were more sensitive than the conventional recordings. However, the conventional SEPs were highly specific in the most severely affected patients; here the specificity was 1.0 for patients with myelomalacia and 0.96 for symptomatic patients. Postoperative SEPs improved after occipital decompression in two children. Conclusion The analysis of somatosensory evoked potentials, in particular of subcortical tracings, is useful in the detection of early cervical myelopathy in children with achondroplasia. Early neurosurgical decompression may prevent irreversible damage. Received: 23 June 1998 / Accepted in revised form: 21 September 1998     

Persistent or severe back pain and stiffness are ominous symptoms requiring prompt attention

BACKGROUND: Children with severe or persistent back pain and stiffness often have an underlying organic cause but there is a large differential diagnosis, examination may be difficult and the problem is relatively rare in general paediatric practice. These difficulties appeared to lead to delays in diagnosis and management of children with this problem. OBJECTIVES: To provide an approach to the diagnosis and management children with severe or persistent back pain or stiffness based on our clinical experience and the literature. METHODOLOGY: The case histories of 10 children with severe back pain seen by the authors over a 5-year period were reviewed. They were chosen as illustrative examples of the diagnostic and management problems and did not represent a systematic review of all cases seen by the authors over that time. RESULTS: Underlying causes included infection, inflammation, neoplasm, trauma and vascular malformation. Four of the children had spinal cord compression which required urgent decompression. There was one child with a conversion disorder but three children with organic disease were initially felt to have a conversion disorder. Investigations generally proceeded relatively slowly and the problem was not regarded as a semi-urgent situation carrying the risk of permanent paraplegia. Magnetic resonance imaging (MRI) scan of the spine was the investigation of choice. CONCLUSION: Children with severe or persistent back pain and stiffness have a wide variety of underlying causes. The possibility of underlying spinal cord compression should always be considered in children with this presentation. If the diagnosis is not obvious, MRI scan of the spine should be arranged without delay.     

Spontaneous spinal epidural hematoma in infancy: Review of the literature and the “seventh” case report

Spontaneous spinal epidural hematomas (SSEH) are a rare cause of spinal cord compression in childhood and especially in infancy. We reviewed the literature and describe a case of an 8-month-old boy with a large spontaneous cervico-thoracic epidural hematoma. With this review we want to detail the importance of early investigation, diagnosis and treatment in infants with SSEH. In our case the infant presented with irritability and crying and an ascending paralysis within four days. Magnetic resonance imaging (MRI) of the spine demonstrated an extensive epidural hematoma between C5 and L1, serious medullar compression and secondary cervical and thoracic medullar edema and hydromyelia. An emergency laminectomy was performed with evacuation of a well organized hematoma. There was a partial recuperation of the neurologic symptoms.Based on the scarce literature which only concerns seven case reports, SSEH is a rare cause of spinal compression in infancy. The presentation is often not specific and neurological symptoms are often lacking in the beginning. However early diagnosis with MRI and prompt neurosurgical intervention are important to improve outcome.     

Cerebral and occipito-atlanto-axial involvement in mucopolysaccharidosis patients: clinical,radiological, and neurosurgical features

Background

Neurosurgical features of mucopolysaccharidosis (MPS) patients mainly involve the presence of cranio-vertebral junction (CVJ) abnormalities and the development of communicating hydrocephalus. CVJ pathology is a critical aspect that severely influences the morbidity and mortality of MPS patients. Hydrocephalus is slowly progressing; it must be differentiated from cerebral atrophy, and rarely requires treatment. The aim of this paper was to review the literature concerning these conditions, highlighting their clinical, radiological, and surgical aspects to provide a practical point of view for clinicians.

Results

CVJ involvement may present with cervical pain, unsteady gait, frequent falls, and progressive impairment of autonomous ambulation, an acute tetraplegia even after minor trauma. Magnetic resonance imaging (MRI) of the cervical spine, including active dynamic flexion and extension scans, is the most powerful imaging technique for detecting spinal cord compression at the CVJ in MPS patients. The main radiological features include atlanto-axial subluxation, odontoid hypoplasia, periodontoid soft tissue masses, spinal canal narrowing, and spinal cord compression. Together with MRI, fine-cut computed tomography (CT) scans with coronal and sagittal three-dimensional reconstructions are important diagnostic tools in the preoperative workup thanks to the information gleaned about bone structure conformation and angles. Finally, angio-CT slices are equally useful in preoperative planning, defining vertebral artery position in relation to bony structures. Surgery of the CVJ is proposed both to treat cord compression with MRI signs of myelopathy or as a preventive treatment in patients at high risk of cord damage. Among different surgical options, we always suggest performing decompression and instrumented stabilization.Hydrocephalus may occasionally present clinically with intracranial hypertension symptoms such as headache, vomiting, and high sight impairment. Neurocognitive symptoms may be hidden by the constitutive cognitive impairment. MRI with a study of dynamic cerebrospinal fluid (CSF) flow is helpful to differentiate from ventriculomegaly, which does not require treatment. Ventriculo-peritoneal shunt placement is the gold standard to treat hydrocephalus, although endoscopic third ventriculostomy has recently shown good results in some patients.

Conclusion

Early recognition of CVJ pathology and hydrocephalus is critical to avoid the development of severe complications. A multidisciplinary approach involving physicians, neuroradiologists, and neurosurgeons is needed to detect such conditions and to select patients eligible for surgery.

     

Cervical spinal cord injury in abused children

Five infants and toddlers who sustained cervical spinal cord injury as the result of child abuse are described. Three cases are previously unreported. Diagnosis was complicated by coexistent brain injuries and their treatments, subtle and/or evolving paralysis, and central cord syndrome, in which arm function is diminished but leg function is preserved. Definitive spinal imaging by magnetic resonance imaging (MRI), computed tomography, and plain radiographs was delayed because of life support efforts. When completed, the MRI was most sensitive to cord injury. Evidence of associated bony spinal injury was often absent or unapparent until healing occurred; 4 children had spinal cord injury without (or with minimal) radiological abnormality. The 3 children presenting to our hospital with cord injury represent 1% of the estimated cases of inflicted head injury seen during a 23-year period.     

小儿椎管内肠源性囊肿的诊断与治疗

目的探讨小儿椎管内肠源性囊肿的临床表现、MRI影像及显微手术治疗。方法回顾性分析1996年至今8年间5例椎管内肠源性囊肿的临床资料，并结合文献加以分析。结果全部病例采用显微外科手术治疗，其中2例全切，2例次全切除，1例大部切除。无一例死亡，经病理报告证实均为肠源性囊肿，术后神经根痛症状基本消失。随访0．5～2年，无一例复发；格拉斯哥预后评分，良好恢复4例，中残1例；脊髓损伤的Frankel分级，E级4例，D级1例。结论小儿椎管内肠源性囊肿有典型的临床表现和MRI特征，作为一种先天性病变，其最佳治疗方法是早期确诊并采取显微外科手术方法切除。     

Imaging of spinal injury in abusive head trauma: a retrospective study

Background

Spinal imaging has been a neglected part of abusive head trauma (AHT) imaging. As most of the radiographs and CT spine are negative in AHT in infants, the cervical spine is assumed to be normal. There is increasing evidence in the role of injury to brainstem and cervical cord in the pathogenesis of AHT. In addition, in courts of law, there is fierce debate about AHT, its mimics and other disparate nontraumatic diagnoses explaining the neuroradiological and skeletal findings. However, this discussion ignores the evidence and significance of spinal injury. We sought to study the cervical spine in an AHT cohort to understand the true prevalence of spinal injuries in AHT and contrast it with cohorts of accidental and nontraumatic groups to give the clinicians a robust diagnostic tool in evaluating AHT.

Objective

The purpose of this study is to compare the relative incidence of spinal ligamentous and soft-tissue abnormalities on spinal MRI among three groups of children ages <48 months: 1) those with AHT, 2) those with accidental trauma, and 3) those with nontraumatic conditions.

Materials and methods

This comparative study included 183 children who underwent spine MRI: 67 with AHT, 46 with accidental trauma and a clinical suspicion of spinal injury, and 70 with nontraumatic conditions. Clinical and radiographic findings were collected in all cases and were analyzed retrospectively to identify MRI evidence of traumatic spinal injuries. The incidence of spinal injuries among the three groups was compared. The incidence of spinal ligamentous injuries was calculated for those with and without radiographic evidence of hypoxic-ischemic encephalopathy. All comparisons were performed using Fisher exact test with P?Results Cervical spine ligamentous injuries (predominantly the nuchal, atlanto-occipital and atlanto-axial ligaments) were present in 78% of the AHT group, 46% of the accidental trauma group and 1% of the nontraumatic group; all of these differences were statistically significant. Among the AHT group, ligamentous injuries were statistically correlated with evidence of brain ischemia.

Conclusion

Injury to the cervical spinal posterior ligamentous complex is common in AHT and even more prevalent than in clinically symptomatic traumatic cases. The high correlation between the radiographic findings of occipitocervical ligamentous injuries and hypoxic-ischemic brain injury is consistent with an interpretation that transient upper occipitocervical spinal cord injury in AHT leads to disordered breathing and results in hypoxic-ischemic encephalopathy. We recommend imaging the entire spine in AHT to properly identify and classify these injuries.     

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction

In order to investigate the diagnostic properties of MRI of the brain and spine in achondroplastic children with regard to decompressive surgery, 25 patients were examined by conventional morphological and by “functional” imaging of CSF flow and magnetic resonance angiography (MRA) of the veins and sinuses at the cranial base following a special protocol. The results were compared to those from age-matched controls and were correlated with each other and retrospectively with the neurological findings. Measurements of distances and angulations at the cranio-cervical junction (CCJ) from MR scans showed similar values to those from conventional radiographs and CTs and thus can be used without correction for spatial distorsion. Signs of cervical medullary compression, myelomalacia and intramedullary cyst formation were found in six, seven and three children respectively. These alterations correlated significantly with each other (P < 0.05). Semiquantitative evaluation of CSF flow demonstrated interruption of CSF pathways at the CCJ, which correlated with CCJ narrowing (P < 0.05). MRA showed a significant narrowing of the jugular foramina with a variable compensatory enlargement of the emissary veins and a significant reduction of the total outflow area (P < 0.01). There were no significant correlations between these MR changes and neurological deficits. Conclusion Due to this unexpectedly poor correlation between magnetic resonance and clinical findings in achondroplastic children, the present role of magnetic resonance in the clinical setting is limited to the demonstration of spinal cord compression in individual cases. In three of our patients with prominent neurological abnormalities, the severe changes demonstrated by magnetic resonance imaging strongly supported the indication for surgical decompression. Received: 13 October 1999 and in revised form: 28 March 2000 and 2 May 2000 / Accepted: 7 May 2000     

Severe cervical kyphosis in osteopathia striata with cranial sclerosis: case report

We report a 29-month-old girl with osteopathia striata with cranial sclerosis (OS-CS), who showed several unusual manifestations, including short stature, muscular hypotonia, short lingual frenulum, an accessory ear and a granuloma at the oral edge. The most unusual distressing finding was severe cervical kyphosis with a dysplastic cervical spine. MRI revealed impingement of the upper spinal cord. To clarify the mode of inheritance of this disease in this patient, we performed a methylation-specific PCR analysis. It eventually showed random inactivation of X-chromosomes, suggesting an autosomal dominant trait. Received: 10 January 2000 Revised: 3 October 2000 Accepted: 12 October 2000     

Severe mid-cervical kyphosis with cord compression in larsen's syndrome and idastrophic dysplasia: Unrelated syndromes with similar radiologic findings and neurosurgical implications

Mid-cervical kyphosis in diastrophic dysplasia (DD) with cord compression and weakness has been recognized for the last three decades. A strikingly similar situation exists in Larsen's syndrome (LS), an otherwise unrelated problem of weakness with lay joints and dislocations with typical facies. Forty patients with DD were studied of whom seven had cervical spine kyphosis: one patient had spontaneous correction over the ensuing two decades. Seven patients with LS were studied of whom four had cervical spine changes with cord compression. There was one sudden death among the patients with LS and no cases of spontaneous correction. Muscle weakness in DD and LS should lead to evaluation of cervical spine kyphosis with cord compression. Plain films, CT and recently MRI are useful.     

Traumatismes médullaires périnatalsSpinal cord birth injuries

Background. - Injury to the spinal cord is still observed in the neonate. Its prognosis is poor. Case reports. - The first neonate was delivered by cesarean section for breech presentation with hyperextension of the neck. She rapidly developed acute respiratory distress and paraplegia. MRI showed spinal cord hemorrhage involving the cervical and upper thoracic cord with rupture of the cord. The patient died a few weeks later. The second neonate was delivered vaginally in breech presentation without any difficulty. She progressively developed tetraplegia evolving into spasticity. MRI showed stretching of cervical spinal cord. The patient later developed sphincter disturbances, repeated urinary and pulmonary infection and severe scoliosis. Conclusions. - Early prenatal damage to the spinal cord was possible in the first patient. Ultrasonography could help to evaluate the extent of damage. The condition leads to difficult ethical and therapeutic problems.     

Magnetic resonance imaging of lesions of the posterior fossa and upper cervical cord in childhood

Magnetic resonance imaging (MRI) promises to be an effective, noninvasive means of visualizing intracranial pathology. It should be especially useful in the evaluation of posterior fossa and cervical spinal cord disease of childhood; computed tomographic (CT) evaluation is frequently suboptimal in this region. MRI results are reported for 46 consecutively seen children with posterior fossa and/or cervical spinal cord disease (28 had brain malignancies; seven had congenital anomalies; three had cerebrovascular accidents). MRI was performed primarily by the partial saturation on a .12 Tesla resistive proton unit. All patients underwent concurrent CT evaluation. MRI demonstrated abnormalities in 96% of scans in patients with structural CNS disease (48 of 50). CNS malignancies were visualized in 100% (28 of 28) of children studied. MRI was especially useful in demonstrating the full extent of infiltrating gliomas and the anatomic location of other mass lesions. MRI frequently demonstrated disease to be more extensive than seen on CT. MRI was more sensitive than CT in documenting response to treatment and disease relapse in patients with infiltrating tumors. Cystic regions within tumors were poorly seen on MRI. Congenital anomalies were demonstrated in all patients evaluated and were better delineated using MRI than CT. MRI is sensitive in the evaluation of posterior fossa and cervical spinal cord disease of childhood and it has obvious advantages over CT; however, its specificity in such evaluations has yet to be proven.     

Radiologic imaging of severe cervical spinal cord birth trauma

The radiological approach of a child with severe cervical spinal cord injury after a difficult breech delivery is presented. This diagnosis is often missed due to concurrent asphyxia. Ultrasound studies clearly showed the localisation and the extent of the injury. These findings were later confirmed by MRI.Conclusion Ultrasonography is recommended as the initial imaging technique to evaluate possible spinal cord lesions in the neonate.     

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.     

Urodynamic findings in the tethered spinal cord: the effect of tethered cord division on lower urinary tract functions.

PURPOSE: The aim of this study is to evaluate the effect of division of the tethered spinal cord urodynamically in spinal dysraphic cases. METHODS: Between 1995-1997, 20 cases (11 males, 9 females) aged from 5 months to 13 years with TSC were investigated. 13 cases (65%) were classed as belonging to the myelomeningocele group and 5 cases (35%) to the spina bifida occulta group. We used a computerized urodynamic system to evaluate the functions of the lower urinary tracts pre- and postoperatively. The definitive diagnosis of cord tethering was made using magnetic resonance imaging (MRI) in 19 cases (95%) and spinal ultrasound in 1 case (5%). Division of filum terminale and laminectomy were carried out in all cases by the Neurosurgery Department, and 2 cases with retethering were operated on twice. RESULTS: All of these cases were assessed urodynamically in the preoperative and postoperative period. Significant improvements were noted in detrusor functions (35%); electromyography recordings (45%); high leak point pressures (55%) and anal and urinary continence (70%). CONCLUSION: Lower urinary tract dysfunctions secondary to tethered cord syndrome are very common in spinal dysraphic cases and significant improvements can be achieved with a judiciously timed division of the spinal tethered cord.     

Spinal muscular atrophy: MR evaluation

The neurogenic myopathy of spinal muscular atrophy (SMA) is degeneration of anterior horn cells of the spinal cord and associated muscle weakness. In three patients with the severe type, according to Dubowitz's classification, magnetic resonance imaging (MRI) of the lower extremity showed severe atrophy of the entire muscle bundles of the thigh and the calf. Nine intermediate type patients had ragged atrophy of muscle bundles of the thigh and the calf with selective preservation of adductor longus muscle. Five patients with the mild type had fatty infiltration of muscle bundles and increased intermuscular fat planes. MRI was insufficient for the evaluation of cervical cord abnormalities. MRI of the lower extremity was a reliable complementary modality for the diagnosis and follow-up of SMA patients.     

小儿颈椎及颈脊髓损伤

目的 总结小儿颈椎及颈脊髓损伤的诊断治疗经验。方法 回顾分析４７例小儿颈椎及颈脊髓损伤。男３１例,女１６例,年龄６－１４岁,平均１１．６岁。新鲜损伤１９例,陈旧性损伤２８例。其中上颈椎损伤３３例,下颈椎损伤１０例,多节段间隔性颈椎损伤１例。无Ｘ线异常的脊椎损伤３例,非手术治疗２７例,手术治疗１９例,未治１例。结果 早期死亡１例。４５例获１－１２年随访,恢复正常或接近正常者３４例,明显改善者６例,５     

Primary central nervous system lymphoma causing multiple spinal cord compression and carcinomatous meningitis in a 6-year-old: a case report

Primary central nervous system lymphoma (PCNSL) is an uncommon form of non-Hodgkin lymphoma affecting the brain, spinal cord, and leptomeninges. Carcinomatous meningitis (CM) and spinal cord compression in PCNSL are very rare and usually present in advanced stages of the disease. The average survival time of a CM patient is about 4 to 6 weeks, which may be extended to about 4 to 6 months with treatment. Here we present a case of CM and spinal cord compression by multiple PCNSL in a 6-year-old girl, who has survived 2 years and 9 months posttreatment with no recurrence. To the best of our knowledge this is the very first case reporting survival after CM. The patient presented with weakness of her right arm, right leg, and left side of the face. Examination revealed mild facial asymmetry with left facial lower motor neuron palsy and lateral gaze restriction of left eye. Magnetic resonance imaging of her spinal cord showed postcontrast enhancement of the intradural structures on the spinal canal at levels C3-C6 and L1-L5 and along with the intracranial leptomeninges. Histopathological examination of the neoplastic tissue from cauda equina revealed B-cell non-Hodgkin lymphoma. After chemotherapy her disease regressed and magnetic resonance imaging showed no evidence of recurrence or residual disease. In our experience the response to chemotherapy was remarkable and recommend that aggressive tumor resection strategies should be reserved for cases with severe signs of spinal compression.     

Symptomatic spinal intradural arachnoid cysts in the pediatric age group: description of three new cases and review of the literature.

Spinal arachnoid cysts are a relatively uncommon lesion that may be either intra- or extradural, and intradural spinal arachnoid cysts are even less common. These cysts are usually asymptomatic but may produce symptoms by compressing the spinal cord or nerve roots suddenly or progressively. We present three cases in the pediatric age group with spinal intradural arachnoid cysts without a preceding history of trauma. Three patients with symptomatic intradural arachnoid cysts were investigated with conventional T1- and T2-weighted magnetic resonance imaging (MRI). The MRI scans demonstrated the intradural arachnoid cysts with slightly lower CSF signal intensity on the gradient echo images and slightly higher signal intensity on T1-weighted images. The first cyst was located at the level T12-L1 and compressed the conus medullaris, with neurogenic bladder and cauda equina syndrome for 2 months. The second was located at the level C5-T1 ventrally, with spastic gait and neurogenic bladder for 4 years. The other was located at T2-3 ventrally, with sudden onset of quadriplegia after jumping rope. The combined treatment of total resection and wide fenestration in our three patients produced an excellent return of neurologic function in each one, except for residual urinary disturbance in case 2. Intradural spinal arachnoid cysts appear to result from an alteration of the arachnoid trabeculae; some such cysts are ascribed anecdotally to previous trauma or arachnoiditis, whereas the majority are idiopathic and congenital. The majority of intradural spinal arachnoid cysts occur in the thoracic region and most are dorsal to the neural elements. Only 10 cases have been reported in which the intradural arachnoid cysts were located anterior to the cervical spinal cord, of which 8 were in the pediatric age group, like our case 2. Myelography, postcontrast CT myelography and MRI have been demonstrated as useful for the diagnosis of intradural arachnoid cysts. MRI is the imaging modality of choice, and the extent, size and nature of the lesion in our cases were well demonstrated by MRI. Surgical treatment is necessary if progressive neurological dysfunction appears in the course of spinal cord compression. Complete surgical excision of the cysts is the best choice of treatment, and wide fenestration and shunting of the cyst to the peritoneum, pleural cavity or right atrium were the modalities of choice. MRI offers a noninvasive and effective means to make the diagnosis of arachnoid cysts easier. Intradural arachnoid cysts may cause progressive myelopathy; however, the postoperative prognosis is good if the operation is performed prior to neurologic deficits.