A Case of Cauda Equina Syndrome in Early-Onset Chronic Inflammatory Demyelinating Polyneuropathy Clinically Similar to Charcot-Marie-Tooth Disease Type 1

To present a case of cauda equina syndrome (CES) caused by chronic inflammatory demyelinating polyneuropathy (CIDP) which seemed clinically similar to Charcot-Marie-Tooth disease type1 (CMT1). CIDP is an immune-mediated polyneuropathy, either progressive or relapsing-remitting. It is a non-hereditary disorder characterized by symmetrical motor and sensory deficits. Rarely, spinal nerve roots can be involved, leading to CES by hypertrophic cauda equina. A 34-year-old man presented with low back pain, radicular pain, bilateral lower-extremity weakness, urinary incontinence, and constipation. He had had musculoskeletal deformities, such as hammertoes and pes cavus, since age 10. Lumbar spine magnetic resonance imaging showed diffuse thickening of the cauda equina. Electrophysiological testing showed increased distal latency, conduction blocks, temporal dispersion, and severe nerve conduction velocity slowing (3 m/s). We were not able to find genetic mutations at the PMP 22, MPZ, PRX, and EGR2 genes. The pathologic findings of the sural nerve biopsy revealed thinly myelinated nerve fibers with Schwann cells proliferation. We performed a decompressive laminectomy, intravenous IgG (IV-IgG) and oral steroid. At 1 week after surgery, most of his symptoms showed marked improvements except foot deformities. There was no relapse or aggravation of disease for 3 years. We diagnosed the case as an early-onset CIDP with cauda equine syndrome, whose initial clinical findings were similar to those of CMT1, and successfully managed with decompressive laminectomy, IV-IgG and oral steroid.     

Clear Cell Ependymoma Occurring in the Cauda Equina

The authors present a rare case of clear cell ependymoma that developed in the cauda equina. A 54-year-old man was admitted to hospital with intermittent lower back pain. A neurological examination conducted on admission revealed no sensory or motor disturbance. Deep tendon reflexes in both lower extremities were normal. Magnetic resonance images demonstrated a 1.0 cm-sized intradural mass at the filum terminale. Gross total resection was performed via total laminectomy of L1 and L2. The tumor was confirmed to be clear cell ependymoma by histopathologic examination. His symptom was relieved after surgery.     

The Incidence and Management of Dural Tears and Cerebrospinal Fluid Leakage during Corrective Osteotomy for Ankylosing Spondylitis with Kyphotic Deformity

ObjectiveTo present the incidence and management of dural tears and cerebrospinal fluid leakage during corrective osteotomy [Pedicle Subtraction Osteotomy (PSO) or Smith-Petersen Osteotomy (SPO)] for ankylosing spondylitis with kyphotic deformity.MethodsA retrospective study was performed for ankylosing spondylitis patients with fixed sagittal imbalance, who had undergone corrective osteotomy (PSO or SPO) at lumbar level. 87 patients were included in this study. 55 patients underwent PSO, 32 patients underwent SPO. The mean age of the patients at the time of surgery was 41.7 years (21-70 years). Of the 87 patients, 15 patients had intraoperative dural tears.ResultsThe overall incidence of dural tears was 17.2%. The incidence of dural tears during PSO was 20.0%, SPO was 12.5%. There was significant difference in the incidence of dural tears based on surgical procedures (PSO vs. SPO) (p<0.05). The dural tears ranged in size from 12 to 221 mm². A nine of 15 patients had the relatively small dural tears, underwent direct repair via watertight closure. The remaining 6 patients had the large dural tears, consequently direct repair was impossible. The large dural tears were repaired with an on-lay graft of muscle, fascia or fat harvested from the adjacent operation site. All patients had a successful repair with no patient requiring reoperation for the cerebrospinal fluid leak.ConclusionThe overall incidence of dural tears during PSO or SPO for ankylosing spondylitis with kyphotic deformity was 17.2%. The risk factor of dural tears was complexity of surgery. All dural tears were repaired primarily using direct suture, muscle, fascia or fat graft.     

Sacral Nerve Stimulation for Treatment of Intractable Pain Associated with Cauda Equina Syndrome

Sacral nerve stimulation (SNS) is an effective treatment for bladder and bowel dysfunction, and also has a role in the treatment of chronic pelvic pain. We report two cases of intractable pain associated with cauda equina syndrome (CES) that were treated successfully by SNS. The first patient suffered from intractable pelvic pain with urinary incontinence and fecal incontinence after surgery for a herniated lumbar disc. The second patient underwent surgery for treatment of a burst fracture and developed intractable pelvic area pain, right leg pain, excessive urinary frequency, urinary incontinence, voiding difficulty and constipation one year after surgery. A SNS trial was performed on both patients. Both patients'' pain was significantly improved and urinary symptoms were much relieved. Neuromodulation of the sacral nerves is an effective treatment for idiopathic urinary frequency, urgency, and urge incontinence. Sacral neuromodulation has also been used to control various forms of pelvic pain. Although the mechanism of action of neuromodulation remains unexplained, numerous clinical success reports suggest that it is a therapy with efficacy and durability. From the results of our research, we believe that SNS can be a safe and effective option for the treatment of intractable pelvic pain with incomplete CES.     

Foraminal Synovial Cyst Associated with Ankylosing Spondylitis

Ankylosing spondylitis (AS) is frequently associated with inflammatory lesions of the spine and continuous fatigue stress fractures; however, an association with an intraspinal synovial cyst has not been previously reported. A 55-year-old man with a five year history of AS who presented with back pain and a right radiculopathy was admitted to the hospital. Five years previously, he underwent a percutaneous vertebroplasty for an osteoporotic L1 compression fracture, and was diagnosed with AS at that time. Plain radiographs showed aggravated kyphosis and a stress fracture through the ossified posterior element, below the prior vertebroplasty. Magnetic resonance images revealed a right foraminal cystic lesion at the L2-L3 level with effacement of the nerve root. A 1.6 cm cystic lesion that appeared to arise from the L2-L3 facet joint without direct communication was excised from the L2-L3 foramen. Pathological examination confirmed synovial cyst. The patient''s symptoms resolved immediately after surgery except for a mild dysesthesia of the right leg. We report herein a rare case of foraminal synovial cyst associated with AS accompanying posterior element fracture with a review of literature.     

Cauda equina syndrome with normal MR imaging

The aim of this study was to compare the clinical characteristics of patients with and without abnormal MR imaging admitted to a neurosurgical unit with suspected cauda equina syndrome using a retrospective study of consecutive admissions to a regional neurosurgical unit over a 10-month period. Clinical details were obtained from the case notes. A lumbar spine MR scan to investigate possible cauda equina syndrome was performed in 66 patients. There were no significant differences between those with abnormal imaging (n = 34, 52%) and those with a normal scan (n = 32, 48%) in respect of sex, clinical history or features recorded on examination. Those with normal imaging had a high frequency of weakness (n = 18, 59%), saddle numbness (n = 17, 57%), leg numbness (n = 24, 80%), urinary incontinence (n = 13, 54%) and urinary retention (n = 9, 53%). A large number of patients present to neurosurgical units with symptoms suggestive of cauda equina syndrome without any radiological evidence of structural pathology. While some may have had an alternative organic cause, we propose that these symptoms may have a “functional” origin in many patients.     

Features of the Filum Terminale in Tethered Cord Syndrome with Focus on Pathology

ObjectiveFilum transection is one of the most commonly performed operative procedure in pediatric neurosurgery. However, the clinical and pathological features as well as the surgical indication are not well-established. This study aimed to analyze the characteristics of patients who underwent transection of the filum during the last 10 years in a single institute. MethodsA total of 82 patients underwent transection of the filum during the period. As a general rule, we performed the transection in patients who are symptomatic or have abnormality in the urologic or neuromuscular evaluations. There were exceptions as asymptomatic patients who only fit the definition of thickened filum (width greater than 2.0 mm or conus level below L3 vertebral body) were operated by parent’s wish or surgeon’s preference according to radiological findings, etc. ResultsSeventy-six out of 82 patients had fibrous tissue in the pathologic specimen of filum. Interestingly, patients who had glial cells were more correlated with no preoperative syrinx, and no progression of syrinx even for those who did have syrinx initially. Also, larger percentage of symptomatic patients had peripheral nerve twigs than asymptomatic patients. No difference in conus level or thickness of filum was found between patients with or without preoperative syrinx. Significantly more patients with syrinx (56%) were chosen to be operated without any symptom or abnormality in study i.e., solely based on radiological findings than those without syrinx (21%). The surgical outcome for syrinx was favorable, as all but one patient had either improved or static syrinx. The exceptional case had increase in size due to the upward displacement of the proximal end of the cut filum. ConclusionThis study evaluated the pathological, clinical, radiological features of patients who underwent transection of the filum. Interesting correlations between pathological findings and clinical features were found. Excellent outcome regarding preoperative syrinx was also shown.     

Cauda equina compression syndrome in a patient affected by thalassemia intermedia: complete regression with blood transfusion therapy

Surgical excision followed by radiotherapy has been reported to be successful in the treatment of spinal cord compressions due to extramedullary hematopoiesis in patients affected by thalassemia. The authors report a case of cauda equina compression in such a patient successfully treated with repeated blood transfusions.     

Surgical Experience of Neglected Lower Cervical Spine Fracture in Patient with Ankylosing Spondylitis

The management of lower cervical fractures in patients with ankylosing spondylitis (AS) differs from normal cervical fractures. Patients with AS are highly susceptible to extensive neurologic injuries and spinal deformities after cervical fractures from even minor traumatic forces. These injuries are uniquely complex, require careful imaging assessment, and aggressive surgical management to optimize spinal stability and functional outcomes.     

Delayed Traumatic Diaphragm Hernia after Thoracolumbar Fracture in a Patient with Ankylosing Spondylitis

Traumatic diaphragm hernia can occur in rare cases and generally accompanies thoracic or abdominal injuries. When suffering from ankylosing spondylitis, a small force can develop into vertebral fracture and an adjacent structural injury, and lead to diaphragm hernia without accompanying concomitant thoracoabdominal injury. A high level of suspicion may be a most reliable diagnostic tool in the detection of a diaphragm injury, and we need to keep in mind a possibility in a patient with ankylosing spondylitis and a thoracolumbar fracture, even in the case of minor trauma.     

Chronic inflammatory demyelinating polyradiculoneuropathy presenting as cauda equina syndrome in a diabetic

Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) may occur in association with diabetes mellitus (DM). We report a case of a poorly controlled diabetic patient who presented with rapid onset of bilateral lower extremity weakness and sensory loss associated with sacral and posterior thigh paresthesias and urinary and bowel incontinence, indicative of cauda equina syndrome (CES). Subsequent evaluation was consistent with CIDP. Monthly infusions with intravenous immunoglobulins (IVIg) with strict glycemic control using insulin resulted in remarkable clinical and electrophysiological recovery. This case report describes a rare presentation of CIDP and emphasizes the importance of early utility of electrodiagnostic (EDX) studies in the clinical evaluation of diabetic patients presenting with rapidly progressive lower extremity weakness and sensory loss associated with diminished reflexes.     

Surgical Outcomes after Traumatic Vertebral Fractures in Patients with Ankylosing Spondylitis

Objective

Ankylosing spondylitis is an inflammatory rheumatic disease mainly affecting the axial skeleton. The rigid spine may secondarily develop osteoporosis, further increasing the risk of spinal fracture. In this study, we reviewed fractures in patients with ankylosing spondylitis that had been clinically diagnosed to better define the mechanism of injury, associated neurological deficit, predisposing factors, and management strategies.

Methods

Between January 2003 and December 2013, 12 patients with 13 fractures with neurological complications were treated. Neuroimaging evaluation was obtained in all patients by using plain radiography, CT scan, and MR imaging. The ASIA Impairment Scale was used in order to evaluate the neurologic status of the patients. Management was based on the presence or absence of spinal instability.

Results

A total of 9 cervical and 4 thoracolumbar fractures were identified in a review of patients in whom ankylosing spondylitis had been diagnosed. Of these, 7 fractures were associated with a hyperextension mechanism. 10 cases resulted in a fracture by minor trauma. Posttraumatic neurological deficits were demonstrated in 11 cases and neurological improvement after surgery was observed in 5 of these cases.

Conclusions

Patients with ankylosing spondylitis are highly susceptible to spinal fracture and spinal cord injury even after only mild trauma. Initial CT or MR imaging of the whole spine is recommended even if the patient''s symptoms are mild. The patient should also have early surgical stabilization to correct spinal deformity and avoid worsening of the patient''s neurological status.     

脊髓拴系综合征终丝超微结构的观察分析

目的 探讨脊髓拴系综合征（TCS）病人脊髓圆锥末端终丝的结构变化,为TCS的诊治提供客观依据。方法 选择2021年10月～2022年5月手术切除的16例TCS病人的终丝标本,进行病理染色,并在显微镜和电镜下观察。结果 HE染色显示TCS终丝波浪状的弹性纤维明显减少,胶原纤维明显增多,可见大量的脂肪细胞。天狼猩红染色显示TCS终丝以Ⅰ型胶原纤维为主,Ⅲ型则嵌入其中。间二苯酚染色显示TCS终丝几乎都是浅色的胶原纤维。网状纤维染色显示TCS终丝多见空泡状的脂肪细胞,偶见穿梭于胶原纤维中的黑色网状纤维。扫描电镜观察显示TCS终丝多见大量排列紊乱、方向性差的胶原纤维,部分可见散在的脂肪细胞;透射电镜观察显示TCS终丝内部多见密集交错的胶原纤维以及这些纤维的规律性的横纹,偶可见成纤维细胞、脂肪细胞等。16例Ⅰ型胶原纤维数量增多,占终丝的大部分;6例可见脂肪细胞,3例显示小血管。结论 多数TCS终丝的弹性纤维、网状胶原纤维明显减少,Ⅰ型胶原纤维异常增加。     

Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature

Introduction A 14-year-old girl, followed in our department for Marfan syndrome, presented with postural headache for a month. Neurological examination was normal. The diagnosis of intracranial hypotension syndrome was suspected. Discussion Bilateral subdural hematomas were found on brain magnetic resonance imaging (MRI), and spinal MRI showed large lumbosacral arachnoid diverticula; no cerebrospinal fluid leaks could be found. Despite bed rest and hydration for 2 weeks, postural headache remained. Epidural blood patching was also performed. Subsequently, the patient became asymptomatic and could stand up after 1 day. Brain MRI did not find recurrent subdural hematoma after 1 month. Dural ectasia is one of the major criteria of Marfan syndrome, and it is often poorly symptomatic. Intracranial hypotension is a rare complication especially in children, and management is not standardized. In this case report, blood patching was sufficient. Further research into the diagnosis and management of spontaneous intracranial hypotension is required.     

Epilepsy in Angelman Syndrome Associated with Chromosome 15q Deletion

We report eight sporadic cases of typical Angelman syndrome (AS) associated with chromosome 15q12 deletion. Age at first visit was 3-35 months (average 18 months), and follow-up period was 4-20 years (average 14.1 years). The characteristic features of epilepsy in AS are (a) seizure onset in early childhood (8 of 8); (b) evolution of seizure type with age (8 of 8); (c) EEG abnormality changes from high-voltage slow bursts (HVS) in infancy to diffuse spike and waves in middle childhood (4 of 5); (d) atypical absence seizures (8 of 8), often occurring as atypical absence status (4 of 8); and (e) diminution of seizure discharges and clinical seizures after puberty (7 of 7). We believe that AS may frequently exist in the intractable epilepsies of childhood with severe mental retardation. We stress the importance of AS as one of the main etiologic background diseases of the intractable epilepsies with infantile onset such as West syndrome, Lennox-Gastaut syndrome, and others.     

Factors Associated with the Success of Trial Spinal Cord Stimulation in Patients with Chronic Pain from Failed Back Surgery Syndrome

Objective

Spinal cord stimulation (SCS) is an effective means of treatment of chronic neuropathic pain from failed back surgery syndrome (FBSS). Because the success of trial stimulation is an essential part of SCS, we investigated factors associated with success of trial stimulation.

Methods

Successful trial stimulation was possible in 26 of 44 patients (63.6%) who underwent insertion of electrodes for the treatment of chronic pain from FBSS. To investigate factors associated with successful trial stimulation, patients were classified into two groups (success and failure in trial). We investigated the following factors : age, sex, predominant pain areas (axial, limb, axial combined with limbs), number of operations, duration of preoperative pain, type of electrode (cylindrical/paddle), predominant type of pain (nociceptive, neuropathic, mixed), degree of sensory loss in painful areas, presence of motor weakness, and preoperative Visual Analogue Scale.

Results

There were no significant differences between the two groups in terms of age, degree of pain, number of operations, and duration of pain (p>0.05). Univariate analysis revealed that the type of electrode and presence of severe sensory deficits were significantly associated with the success of trial stimulation (p<0.05). However, the remaining variable, sex, type of pain, main location of pain, degree of pain duration, degree of sensory loss, and presence of motor weakness, were not associated with the trial success of SCS for FBSS.

Conclusion

Trial stimulation with paddle leads was more successful. If severe sensory deficits occur in the painful dermatomes in FBSS, trial stimulation were less effective.     

Neuroleptic Malignant Syndrome Associated with Amoxapine and Lithium in an Older Adult

This report describes the presentation of neuroleptic malignant syndrome (N0M.S) in the primary care setting in an older adult with major depression with psychosis. This patient had been stable on a regimen of amoxapine, lithium carbonate, lorazepam, and benztropine. The patient had rigidity, altered sensorium, diaphoresis, autonomic instability, elevated WBC count and urine myoglobin, and creatine phosphokinase (CPK) reaching 1331 U/I. He was successfully treated with bromocriptine.     

Sleep-Related Problems in Youth with Tourette's Syndrome and Chronic Tic Disorder

This study reports the prevalence and symptom correlates of sleep related problems (SRPs) in a sample of young people with Tourette's Syndrome (TS) or Chronic Tic Disorder. Fifty-six young people (and one of their parents) with a tic disorder were administered the Yale Global Tic Severity Scale. Children completed the Pediatric Quality of Life Inventory and Multidimensional Anxiety Scale for Children. Parents completed the Pediatric Quality of Life Inventory – Parent Proxy and Child Behavior Checklist. Overall, SRPs were widely endorsed, with 80.4% experiencing at least one SRP and 19.7% experiencing four or more. SRPs were negatively associated with quality of life and positively associated with internalising and externalising behaviours. Children with comorbid anxiety disorders had more SRPs than those without. We conclude by recommending that SRPs be assessed in young people with tics (particularly when comorbid anxiety is present), and highlight the role of psychotherapeutic and pharmacological intervention in reducing SRPs.     

Brain Imaging in Cerebellar Ataxia Associated with Autoimmune Polyglandular Syndrome Type 2

Autoimmune polyglandular syndrome (APS) type 2 (Schmidt syndrome) is a disorder characterized by a combination of autoimmune adrenal insufficiency, autoimmune thyroid disease, and type 1 autoimmune diabetes mellitus. We describe the first case of subacute cerebellar syndrome associated with APS type 2. Brain magnetic resonance imaging showed atrophy of the cerebellum and the vermis, as well as of the anterior pituitary gland. Magnetic resonance spectroscopy showed decreased N‐acetylaspartate/creatine ratio in the cerebellum and in the pons. Our findings expand the spectrum of neurological deficits in APS type 2 and underlines that cerebellar pathways may be a main target of the disorder.