Adult-onset citrullinemia]

Adult-onset citrullinemia (CTLN2) is a rare hereditary metabolic disorder characterized by highly increased concentration of citrulline and ammonia in the plasma, which is ascribed to a deficiency of argininosuccinate synthetase (ASS), one of the urea cycle enzymes mainly located in the liver. Neurological manifestation in CTLN2 patients closely resemble those of hepatic encephalopathy and in the past, most patients usually followed rapidly deteriorating clinical courses and died of severe brain edema within a few years after onset. However, in 1995 the first CTLN2 patient who was successfully treated by living-related liver transplantation was reported and since then more than 30 patients had underwent this operation in our country, showing good outcomes. No primary defect had not been found within ASS gene locus, but the causative gene of this disorder is now identified as the "citrin gene", which might act as a aspartate/glutamate transporter in mitochondria. Different phenotypes are seen in the individuals with a citrin deficiency: neonatal intrahepatic cholestasis, juvenile-onset chronic pancreatitis and hepatocellular carcinoma without cirrhosis can precede the appearance of CTLN2. The precise pathogenesis of this disease that includes the relationship between the mutations of citrin gene and a deficiency of hepatic ASS activity remains unclear.     

副肿瘤性脊髓病的临床和影像特点

目的报道副肿瘤性脊髓病的临床表现、影像和血清学特征。方法检索宣武医院2010年1月至2019年6月期间的副肿瘤性脊髓病住院患者,系统分析其临床表现、血清学和影像学数据。结果10例患者中符合确定的副肿瘤综合征7例,可能的副肿瘤综合征3例。患者中亚急性起病3例,慢性起病7例,脊髓病起病后确诊时间平均为10.1个月。10例患者中7例表现为单纯副肿瘤性脊髓病,2例伴有周围神经病,1例伴有僵人综合征。10例患者中9例患者行腰穿检查脑脊液,其中8例有异常,5例淋巴细胞增多,5例蛋白升高,6例寡克隆区带阳性;7例患者神经肿瘤抗体阳性,分别为抗amphiphysin抗体1例、抗CRMP-5抗体1例、抗Hu抗体3例、抗Yo抗体1例、抗Ri抗体1例;7例患者病理证实为恶性肿瘤。10例患者中,脊髓磁共振异常5例,其中长脊髓病变4例(其中累及椎体节段14个1例,6个1例,3个2例),短脊髓病变1例,病灶均对称性累及传导束或者脊髓灰质。10例患者中9例接受治疗,其中单纯手术治疗3例,单纯糖皮质激素治疗1例,手术+糖皮质激素治疗1例,糖皮质激素+肿瘤化疗治疗2例,手术+糖皮质激素+肿瘤化疗治疗3例,患者临床症状均无明显改善。结论副肿瘤性脊髓病罕见,多表现为慢性进行性脊髓病且多先于肿瘤出现;多数患者脑脊液表现异常,影像学可表现为脊髓长节段病灶。该病治疗上以肿瘤治疗为主,免疫治疗为辅。     

An autopsy case of AIDS initially presenting with symptoms of myelopathy

An autopsy case of HIV encephalomyelopathy in a homosexual patient who initially presented with signs of myelopathy, such as urinary incontinence and spasticity of both legs, is reported. The pathological examination disclosed typical HIV encephalopathy with macrophages and multinucleated giant cells (MGC) in the cerebral white matter and loss of neurons of the cerebral cortex. The MGC contained HIV-1 p24 antigen. The thoracic spinal cord was markedly atrophied with degeneration of both lateral tracts, and histologically characterized by gliosis and perivascular accumulation of macrophages. Vacuolar changes and HIV-1 p24-containing cells were not observed in the spinal cord. The present case indicates that myelopathy can occur as an initial sign in AIDS patients, even though its pathomechanism remains to be elucidated.     

Myelopathy patients studied with magnetic resonance for multiple sclerosis plaques

Seven patients with isolated spinal cord symptoms, and with evoked potential (EP) recordings and/or cerebrospinal fluid (CSF) findings supporting a demyelinating cause for their myelopathy, were examined with cervical and cranial magnetic resonance imaging (MRI). Lesions in the cervical spinal cord were detected in 6 of the patients, including 2 who also had disseminated lesions in the brain compatible with multiple sclerosis (MS). In one patient MRI of the cervical spinal cord was normal, while plaques were seen in the periventricular region of the brain and in the brain stem. Thus, in the 3 patients with cerebral plaques, MRI supported the diagnosis of MS by showing dissemination in space. In the remaining 4 patients MRI provided support for the diagnosis of MS by demonstrating the cervical spinal cord plaques while excluding other potential causes of myelopathy, such as spinal cord compression and intramedullary tumor.     

The spinal cord in lightning injury: a report of two cases

We present 2 patients in whom the predominant neurological complication following lightning strike was spinal cord injury. One patient, who was followed for 5 years, showed clinical, electrophysiologic and MRI evidence of cervical spinal cord injury. This patient had significant recovery, which in part, may be related to early and intense rehabilitation. The second patient presented with the symptoms and signs of spinal shock which then evolved into a myelopathy. Follow-up several months later showed almost complete resolution of symptoms. These patients demonstrate that the prognosis of spinal cord injury complicating a lightning strike may not be uniformly poor.     

颅内硬脑膜动静脉瘘引起严重脊髓症状(3例报告)

目的 :结合 3例硬脑膜动静脉瘘 (IDAVF)伴脊髓表面引流的影像学、临床表现、病程特点 ,探讨引起脊髓症状的原因。方法 :分析 3例IDAVF伴脊髓表面引流的影像学特点、临床表现、病程发展 ,结合文献加以分析和讨论。结果 :临床症状主要表现为颅内症状者 1例 ,脊髓症状者 2例。结论 :IDAVF伴脊髓表面引流的临床表现与脊髓根静脉的引流出路有关。硬脑膜动静脉瘘伴脊髓症状的诊断较困难 ,特别是仅有脊髓症状者。年轻人中慢性脊髓病变 ,急性加重时应注意颅内血管造影可做出诊断     

24例肝性脊髓病临床分析

目的分析肝性脊髓病的诊断及预后。方法收集2008-2009年郑州大学第一附属医院收治的肝性脊髓病24例,完善相关实验室检查,部分患者行脊髓MRI、运动诱发电位、肌电图等检查,并给予降氨、限制蛋白质摄入、补充B族维生素、营养神经等治疗。结果 24例患者预后均不佳,随访1年发现,2例患者症状改善,其余22例患者症状进行性加重,其中10例死于严重的肝衰竭及其相关并发症。结论肝性脊髓病的预后不良,目前尚无特殊治疗方法,肝脏移植可能是治疗该病的有效方法。     

Superior sensitivity of motor over somatosensory evoked potentials in the diagnosis of cervical spondylotic myelopathy

Myelopathy secondary to cervical spondylosis is often a difficult clinical diagnosis. Furthermore, with the introduction of magnetic resonance imaging (MRI) an increasing number of patients are identified with spondylotic cervical spinal cord compression. We analyzed the value of functional assessment of the spinal cord by motor and sensory evoked potentials (MEP and SEP) in the detection of myelopathy, with special emphasis on the correlation of clinical and electrophysiological findings. Fifty-one patients with at least some degree of spinal cord compression because of cervical spondylosis, as shown by MRI, were included in the study, grouped according to clinical symptoms. We found that patients who had no clinical symptoms whatsoever indicating myelopathy (they were referred to MRI examination mostly because of cervical radiculopathy), had in the large majority normal MEP and SEP findings. Patients with slight, unspecific and non-confirmative symptoms without pyramidal signs had mostly abnormal MEP but normal SEP findings. This points to the superior sensitivity of MEP over SEP in detecting myelopathy in its early stages. Patients with obvious clinical signs of myelopathy, including pyramidal signs had both abnormal MEP and SEP findings. Altogether these findings may help clinicians in interpreting MRI signs of cervical spinal cord compression.     

Radiation myelopathy in children

Three children, 1 with medulloblastoma, 1 with anaplastic cerebellar tumor, and 1 with acute lymphocytic leukemia, received craniospinal irradiation with an estimated cord dose between 1,100 and 1,200 rets. All 3 patients after a latent period of seven to eight months developed subacute transverse myelopathy. The myelopathy was cervical in 2 patients and thoracic in 1. Spinal fluid examination showed high protein levels in 2 patients. Myelography demonstrated a swollen cord in 2 patients and normal appearance in 1. Autopsy in 1 patient disclosed a necrotizing myelopathy. The findings suggest that children tolerate less well than adults what previously have been considered safe doses of radiation to the spinal cord.     

合并脊髓静脉高压综合征的脊髓血管母细胞瘤的手术治疗

目的 总结合并脊髓静脉高压综合征（VHM）的脊髓血管母细胞瘤的诊治经验。方法 回顾性分析2005~2019年手术治疗的10例脊髓血管母细胞瘤的临床资料,结合术前MRI T2像及病人临床表现评估VHM,并总结脊髓血管母细胞瘤合并VHM的诊治经验。结果 单发肿瘤9例,其中肿瘤位于颈段3例、胸段4例、腰段2例;多发1例（颈段、胸段及腰段均有）。术前存在VHM 6例,术前MRI均可见病变节段以外的脊髓中央区MRI T2高信号,存在明显的脊髓功能损伤症状,如肢体运动功能障碍或大小便功能障碍等。10例肿瘤均全切除,其中1例多发肿瘤一次切除3个胸段肿瘤。无手术死亡病例。结论 脊髓血管母细胞瘤为富含血管的血管性肿瘤,往往有高流量的血流通过,引流静脉常迂曲扩张并同脊髓表面正常引流静脉沟通导致VHM,有症状者应早期手术,避免出现不可逆的神经功能损伤,肿瘤切除后VHM自然治愈。     

A comparison of myelopathy associated with megavoltage irradiation and remote cancer.

Two middle-aged women with malignancy of the aerodigestive tract were treated by megavoltage irradiation. Both subsequently developed transverse myelopathy. The diagnosis of radiation myelitis was rendered in one. The other was thought to have metastatic compression of the spinal cord; in this case, evidence was such that radiation myelopathy also was appropriate. The irradiation dose-time relationships in both patients were biologically low compared to published isoeffect curves available in the literature. The first patient had injury within the irradiated region and the main neurological damage was found there. In the second patient the entire spinal cord was necrotic, clearly placing the second case outside the radiation myelopathy syndrome. Gross and microscopic examinations of the tissues of these two patients show that the remote effects of malignancy upon the central nervous system can imitate the clinical picture of radiation myelitis.     

Diffusion-weighted imaging in noncompressive myelopathies: a 33-patient prospective study

Diffusion-weighted imaging (DWI) is frequently used to differentiate cerebral lesions. The aim of our study was to evaluate the diagnostic value of DWI and the measurement of the apparent diffusion coefficient (ADC) in noncompressive myelopathy explorations. Thirty-three patients presenting a spinal cord syndrome due to a noncompressive myelopathy underwent spinal cord MRI between September 2005 and November 2008. For each patient, the ADC was calculated in the pathological spinal cord. ADC values were also measured in the healthy spinal cord of ten control subjects. Statistical analysis was based on the Student’s t test. Twenty-one patients presented an inflammatory myelopathy: Nine patients presented multiple sclerosis, three patients presented a parainfectious myelopathy, two patients acute disseminated encephalomyelitis, one patient neuromyelitis optica, one patient systemic lupus erythematosus, and five patients a myelopathy of unknown aetiology. Six patients presented a spinal cord infarction. ADC values were significantly lower in spinal cord infarct (mean ADC = 0.81 ± 0.08 × 10⁻³ mm²/s) than in inflammatory spinal cord lesions (mean ADC = 1.37 ± 0.23 × 10⁻³ mm²/s) and in healthy control spinal cord (mean ADC = 0.93 ± 0.07 × 10⁻³ mm²/s). These results are important to differentiate ischaemic from inflammatory myelopathies, especially at the acute phase when clinical presentation and extensive work-up are not able to show an aetiologic diagnosis. Although these results are similar to those described in cerebral explorations, ADC measurements remain technically limited for the moment.     

Postnatal development of brainstem serotonin-containing neurons projecting to lumbar spinal cord in rats

We quantified postnatal changes in brainstem serotonin (5-hydroxytryptamine, 5-HT)-containing neurons projecting to lumbar spinal cord. The medulla-spinal cord descending neurons were identified by a retrograde neurotracer, choleratoxin B subunit (CTb), and 5-HT neurons were stained by immunohistochemistry. Double-labeled neurons were assumed to be 5-HT neurons projecting to the lumbar spinal cord, and were quantitatively analyzed in each raphe nucleus in the medulla. The following results were obtained: (1) At PND 3, numerous CTb-labeled neurons (CTLN) were already present in the raphe pallidus (B1), while few CTLN were seen in raphe obscurus (B2) and raphe magnus (B3). CTLN then rapidly increased in number and were separately distributed after PND 7 in B3 and after PND 14 in B2. (2) At PND 3, numerous 5-HT-containing neurons were already present in B1-B3, with 23.4% and 14.0% of them labeled with CTb in B1 and B2, respectively, while there were few double-labeled neurons in B3. From PND 3 to 28, although the proportion of double-labeled to 5-HT neurons remained unchanged in B1 and B2, that in B3 rapidly increased from 5.8% at PND 7 to 28.8% at PND 14. Previous studies have shown that the 5-HT neurons in B3 send fibers mainly to the dorsal horn, while those in B1 and B2 send fibers mainly to the ventral horn at all spinal cord levels. Taken together, the present findings suggest that the brainstem 5-HT systems influence the ventral horn of the spinal cord, where spinal motoneurons exist earlier than in the dorsal horn. The functional significance of these early 5-HT systems in motor development and/or disabilities is discussed.     

Vitamin B12 extensive thoracic myelopathy: clinical, radiological and prognostic aspects. Two cases report and literature review

The myelopathy caused by vitamin B12 deficiency is known as subacute combined degeneration. It is rare, but a well known cause of demyelination of the dorsal columns of the spinal cord. The magnetic resonance imaging is characterized by an increased signal on T2-weighted images involving the posterior columns of cervical and thoracic cord. There have been few cases in literature with extensive lesions (more than seven levels) of the thoracic spinal cord. The clinical and radiological improvements are possible if the replacement of vitamin B12 is initiated precocious. We present two rare cases of extensive thoracic myelopathy due to vitamin B12 deficiency. The first is a young woman with complete clinical recovery and important radiologic improvement after early treatment. In addition, the second case is an older man with partial response to the treatment. Those cases illustrate the importance of considering vitamin B12 deficiency in any patient, who presents with myelopathy.     

Thoracic myelopathy secondary to seizure following scoliosis surgery

The incidence of spinal injuries is increased in people with epilepsy although compressive thoracic myelopathy has not been reported. We describe a 15-year-old girl with SCN1A mutation (Dravet syndrome), refractory generalized tonic-clonic seizures, and prior posterior instrumentation and fusion for scoliosis, who presented with progressive lower extremity weakness. Junctional kyphosis with disc herniation and spinal cord compression directly rostral to the instrumentation was apparent on imaging. On history, the patient had suffered a particularly severe convulsive seizure just before developing symptoms. Surgical decompression and stabilization led to a complete neurologic recovery. This unusual presentation of myelopathy illustrates the need to consider this complication in patients with epilepsy and spinal instrumentation.     

Methotrexate-induced myelopathy mimicking subacute combined degeneration of the spinal cord

Methotrexate (MTX), a folate antagonist, is widely used to treat hematological malignancies. Although it is known to cause myelopathy, little is known about the pathophysiology and natural history of this myelopathy. We describe a 42-year-old woman with acute lymphoblastic leukemia who was treated with chemotherapy consisting of intrathecal MTX who developed a progressive myelopathy. The myelopathy mimicked, radiologically, subacute combined degeneration (SACD) of the spinal cord. This myelopathy mimicking SACD could be explained by the folate antagonism of MTX. The progressive clinical signs and serial MRI in this patient further our understanding of the natural progression of this myelopathy.     

Ischaemic myelopathy secondary to disseminated intravascular coagulation in AIDS

Summary A 39-year-old patient with AIDS presented with a rapidly progressive myelopathy with a partial Brown-Séquard syndrome. He died, 9 weeks after onset of the first neurological signs, from diffuse encephalopathy. Neuropathological examination revealed multiple, usually small, frequently haemorrhagic, infarcts or various ages and numerous fibrin thrombi in medium and small penetrating vessels and capillaries of the brain and spinal cord, characteristic of disseminated intravascular coagulation. There were no inflammatory changes. Immunohistochemical studies for human immunodeficiency virus, cytomegalovirus, varicella zoster virus, herpes simplex virus type 1 and type 2 were negative. Ischaemic spinal cord lesions due to disseminated intravascular coagulation may represent an unusual cause of focal, non-inflammatory, non-tumoral, myelopathic syndrome in AIDS.     

Myelopathy but normal MRI: where next?

For most patients presenting with a spinal cord syndrome MR scanning has become the key investigation in establishing the diagnosis. However, myelopathy with normal spinal imaging remains a common clinical conundrum. In this review we discuss the diagnoses to consider for the neurologist presented with a patient with "MR normal myelopathy". We will illustrate this scenario with a series of short cases and consider the further investigation of "MRI normal" myelopathy.     

多种脊髓诱发电位测评高龄脊髓型颈椎病患者颈脊髓机能

目的调查高龄脊髓型颈椎病患者的颈脊髓机能状态,并结合磁共振影像学（MRI）及X线放射学探讨其病理生理形成机制.方法对23例MRI显示为多椎间脊髓压迫的高龄脊髓型颈椎病患者,采用经颅电刺激-脊髓硬膜外记录、经脊髓硬膜外刺激-脊髓硬膜外记录、经正中神经刺激-脊髓硬膜外记录的三种脊髓诱发电位进行颈脊髓机能测定.结果17例患者（73.9%）显示为颈脊髓单一椎间的障碍,其中10例位于C3-4、5例位于C4-5、2例位于C5-6.另外6例患者（26.1%）的正中神经刺激-脊髓硬膜外记录结果表现为多个或两个椎间的障碍.结论在MRI影像学上显示为多椎间脊髓压迫的高龄脊髓型颈椎病患者,其多数在脊髓电生理上：表现为单一颈椎椎间的脊髓白质损伤,特征是不仅脊髓后索的感觉传导束,而且侧索的皮质脊髓束也受到损伤.结合X线放射学结果分析,C3-4或C4-5颈椎椎间的过大活动度或不稳是导致高龄脊髓型颈椎病患者脊髓传导束损伤的一个重要原因.     

Non-traumatic anterior spinal cord infarction in a novice surfer: a case report

We present a case involving a 24-year-old woman who developed anterior spinal cord infarction with paraplegia but preserved posterior column sensation shortly after her first surfing lesson. The clinical presentation and magnetic resonance imaging findings were compatible with anterior cord infarction from T11 to conus medullaris. However, a thorough diagnostic workup revealed no predisposing factors of ischemia. Like previously reported cases of surfer's myelopathy, our patient was inexperienced and lacked trained back muscles, though none of the previously related cases were reported to have anterior cord infarction. In this case report, we discuss the probable relationship between surfing and ischemic myelopathy. Non-traumatic myelopathy in surfing is a relatively new entity thought to occur in surfers while paddling their boards in a hyperextended position and perform the Valsalva maneuver while attempting to stand up on the boards, which may increase intra-spinal pressure. Increased awareness of this injury may make it possible to recognize its early symptoms and prevent further injury.