Sphincter Disturbances Research Articles

Characterizing the clinical, radiological and serological features of children diagnosed with neuromyelitis optica spectrum disorder at pediatric neurology unit

Background. Neuromyelitis optica spectrum disorder is a rare autoimmune disease with a chronic inflammatory demyelinating characteristics that affects the central nervous. The aim of the study is to characterize the clinical, serological and radiological features of neuromyelitis optica disease in a sample of children from Iraq. Methods. A cross-sectional descriptive study has been carried out in the period from August 2019 to September 2020, in pediatric neurology ward in Children Welfare Teaching Hospital, Baghdad. In 12 retrospectively gathered cases, the medical registration of the ward was assessed. A total of 13 patients, aged 3-16 years were included. Results. Among the patients, girls represented 61.5% (8), and the females: males ration was (1.6:1). The patients' ages ranged from 3 to 16 years (mean 9.3 ± 4.02 years). All patients younger than 6 years were AQP-ve, in contrast to 15.3% in those older than 6 years. Negative AQP patients equally distributed between males and females. While females predominated in those with AQP positive status (5,71.4%). Weakness of the limbs and sphincteric disturbance were the first two common clinical features in both AQP positive and negative patients. The three most common brain sites insulted were deep white matter (10, 76.9%), periaqueductal area (5, 38.4%), and brainstem (4, 30.7%). All patients showed long spinal lesions, affecting predominantly the cervico-thoracic (61.53%). Conclusion. The demographic characteristics of the present cohort were comparative to that reported in the literature. Transverse myelitis phenotype was the most common and consistent one. Vomiting was more common in AQP +ve patients.

Filum terminale infected epidermoid cysts in pediatric age group; A case series

BackgroundEpidermoid cysts are rare and account for only 1 % of primary spinal tumors. It's due to inclusion of ectodermal tissue during the third and fourth weeks of gestation. Infected epidermoid cysts are exceedingly rare with very few reports in literature. The clinical presentations include radicular symptoms, motor weakness, sphincteric disturbance, and repeated chemical meningitis. Surgery of this kind of tumor remained a challenge and of a considerable recurrence rate. MethodsThis is a retrospective study reviewing the records of six children who were treated for filum terminale infected epidermoid cysts. All patients underwent microsurgery, and the surgical outcomes were studied through a follow up period of at least 24 months. ResultsAll children had a low back dermal sinus with purulent discharge. One child was a recurrent presentation after the previous two surgeries for evacuation of pus collection, and the other five children were operated for the first time. All the six children had an associated neurological deficit; one child presented with active central nervous system infection, and one child had a history of meningitis and admission to hospital prior to our surgery. Regular follow up revealed no recurrence in any of the six patients. The five patients, who presented with motor weakness, showed significant improvement of the motor power with regular post-operative physical therapy. ConclusionEpidermoid cysts are rare benign lesions that may lead to significant morbidity when infected. The aim of microsurgical excision is to remove the cyst content and its capsule without inducing or increasing neurological deficit by the aid of intraoperative neuromonitoring and microsurgery techniques.

Functional outcomes in intradural extramedullary spinal tumors.

Intradural extramedullary (IDEM) spinal cord tumors account for approximately two-thirds of benign intraspinal neoplasms. These are amenable to gross total excision but can have variable functional outcomes, which plays a key role in assessing their impact on a patient's quality of life. Understanding the functional outcomes associated with these tumors is crucial for healthcare professionals to devise appropriate treatment plans and provide comprehensive care. In this study, we retrospectively reviewed the outcomes of 130 patients with IDEM tumors who underwent surgery in the past six years between January 2017 and December 2022 at a single institution. Patient demographics, symptoms, and tumor characteristics (anatomical and pathological) in all operated spinal IDEM tumors were analyzed. The neurological findings obtained during the preoperative stage and the postoperative follow-up were evaluated according to the Frankel grading. The back pain was assessed using the Denis pain scale (DPS). The age range, gender distribution, presentation, histopathology, and tumor characteristics were analyzed. The histopathological outcomes of the study were as follows: 56 cases of schwannoma, 37 cases of meningiomas, 16 patients of neurofibroma, six cases of epidermoid cyst, five cases each of ependymoma and dermoid cyst, three cases of arachnoid cyst, two cases of metastasis, and one case of paraganglioma. Pain was the most common symptom (38.5%), followed by weakness in limbs (31.5%), paresthesia/numbness (22.3%), and sphincter disturbance (7.7%). Complete total resection was seen in 93% of cases, with 7% undergoing subtotal excision. The complications encountered were - four cases of surgical site infection and one case each of cerebrospinal fluid leak, pseudomeningocele, and epidural hematoma. In our series, 49.3% of patients had significantly good improvement in functional outcomes as per improvement in Frankel score, and 43% of patients had good functional improvement. Significant functional improvement was noted at immediate postoperative follow-up, 2-week follow-up, and six-month follow-up periods. Reoccurrence was seen in 7 cases (5.4%). The DPS score mean values showed a significant decrease over the follow-up duration as compared to preoperative mean values. Significantly poor outcome was seen in IDEM tumours present anteriorly. The IDEM tumors are usually benign and are readily detected by contrast-enhanced magnetic resonance imaging scans. These have variable functional outcomes in different centers. Assessing this functional outcome is an essential aspect of managing IDEM spinal tumors. It was observed through our study that the ventral location of the tumor, thoracic tumors, and poor preoperative neurological status of the patient correspond with poorer postoperative functional outcomes. Furthermore, a significant decrease in the pain symptoms with improvement of Frankel score was seen postoperatively, thus this being suggestive of a significant improvement of functional outcome after surgery. This study helps to conclude that the morbidity associated with the resection of IDEM tumors is not as significant as originally thought to be.

Deep neurological phenotyping in oculo-dento-digital syndrome.

Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great phenotypic heterogeneity. Neurological manifestations are thought to occur in about one third of cases, but systematic studies are not available. We performed deep neurological phenotyping of 10 patients in one ODDD pedigree. Retrospective case series. We analyzed in depth the neurological phenotype of a three-generation family segregating the heterozygous c.416T > C, p.(Ile139Thr) in GJA1. Clinical and neuroradiological features were retrospectively evaluated. Brain MRI and visual evoked potentials were performed in 8 and 6 cases, respectively. Central nervous system manifestations occurred in 5 patients, the most common being isolated ataxia either in isolation or combined with spasticity. Furthermore, sphincteric disturbances (neurogenic bladder and fecal incontinence) were recognized as the first manifestation in most of the patients. Subclinical electrophysiological alteration of the optic pathway occurred in all the examined patients. Neuroimaging was significant for supratentorial hypomyelination pattern and hyperintense superior cerebellar peduncle in all examined patients. The neurological involvement in ODDD carriers is often missed but peculiar clinical and radiological patterns can be recognized. Deep neurological phenotyping is needed to help untangle ODDD syndrome complexity and find genotype-phenotype correlations.

Intraoperative direct venous puncture and embolization for arteriovenous shunt below the conus medullaris: a prospective cohort study

BackgroundArteriovenous shunt below the conus medullaris (AVS-BC) is easily misdiagnosed and mistreated due to its rarity. Achieving an anatomical cure solely through endovascular or surgical means is challenging. This study...

HTLV-1 Proviral Load Absolute RT-qPCR Development for Assessing on Clinical Outcomes in HAM/TSP Patients.

The significance of HTLV-1 proviral load as a prognostic biomarker in HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) has been a subject of controversy. This study aims to assess the impact of HTLV-1 proviral load (PVL) on the clinical outcome in patients with HAM/TSP. An absolute quantitative HTLV-1 PVL RT-qPCR, TaqMan method was developed with 100% sensitivity and specificity. Then, from 2005-2018, the HTLV-1 PVL of 90 eligible newly diagnosed HAM/TSP patients were assessed for demographic, clinical symptoms and their associations with HTLV-1-PVL. The quality control of the designed RT-qPCR showed a sensitivity and specificity of 100%. Spasticity in lower limbs in 58.9% and urinary symptoms in 17.8% of HAM/TSPs were observed. Using this designed RT-qPCR, the HTLV-1-PVL strongly affected spasticity and sphincter disturbance (p=0.05). The multivariate logistic test showed that only the beginning of lower limb weakness along with tremor was associated with PVL (OR: 2.78. 95% CI (0.99-1.02) and p=0.05). Urinary incontinence was prevalent among these patients; however, no association was identified with the HTLV-1 proviral load (PVL). The absolute RT-qPCR developed for measuring HTLV-1 proviral load (PVL) demonstrated reliable results. Despite a high prevalence of urinary incontinence in these patients, no association was observed with the PVL. Consequently, it appears that HTLV-1 proviral load is specifically associated with developing spasticity in HAM/TSP.

Nabiximols oromucosal spray in patients with multiple sclerosis-related bladder dysfunction: A prospective study.

Spasticity and urinary disturbances can profoundly impact the daily lives of persons with multiple sclerosis (pwMS). Cannabis has been associated with improvement in sphincteric disturbances. To our knowledge, few studies have evaluated the effect of nabiximols oromucosal spray (Sativex®) on urinary disturbances by instrumental methods. This longitudinal study was conducted to assess the effect of nabiximols oromucosal spray on urinary disturbances by clinical and urodynamic evaluation in pwMS. Neurological, spasticity, and quality of life (QoL) assessments were performed before (T0), and at one (T1) and six (T6) months after the start of nabiximols treatment. At these same time points, patients were assessed for urinary disturbances by the International Prostatic Symptoms Score (IPSS) and a urodynamic test evaluating maximum detrusor pressure (Pdet), bladder filling capacity (CCmax), uninhibited detrusor contractions (UDC), bladder volume at first desire (BVFD), post-void residual volume (PVR) and voluntary abdominal pressure (PA). Of 31 pwMS enrolled in the study, 25 reached T1 and 18 reached T6. Mean IPSS total score, its subscores, and IPSS QoL decreased significantly from T0 to T6 (p=0.000), with no differences according to sex, age, MS type, disease duration and disability at baseline. Pdet improved significantly from T0 to T6 (p=0.0171), and CCmax changed only marginally (p=0.0494); results were similar in patient subgroups naïve to or previously exposed to urological treatment. All patients with overactive bladder showed improvement in their urodynamic assessment based on significant reduction of Pdet (p=0.0138). In patients with mainly hypotonic bladder, mean Pdet decreased from T0 to T6 without reaching statistical significance; most urodynamic parameters showed a trend to improve. Mean numerical scale scores for MS spasticity, and for spasms, pain and tremors, decreased significantly from T0 to T6. The mean 'physical health composite' score of the MS Quality of Life-54 questionnaire increased significantly from T0 to T6 (p=0.0126). Our data suggest that nabiximols has an appreciable effect on ameliorating subjective perception of urinary disturbances and appears to have a positive effect on objective urodynamic parameters, particularly in patients with hyperactive bladder.

Surgical outcomes and risk factors for recurrence of myxopapillary ependymoma: a single-center experience.

Myxopapillary ependymomas (MPEs) are low-grade, well-circumscribed tumors that often involve the conus medullaris, cauda equina, or filum terminale. They account for up to 5% of all tumors of the spine and 13% of spinal ependymomas, with a peak incidence between 30 and 50 years of age. Because of the rarity of MPEs, their clinical course and optimal management strategy are not well defined, and long-term outcomes remain difficult to predict. The objective of this study was to review long-term clinical outcomes of spinal MPEs and identify factors that may predict tumor resectability and recurrence. Pathologically confirmed cases of MPE at the authors' institution were identified and medical records were reviewed. Demographics, clinical presentation, imaging characteristics, surgical technique, follow-up, and outcome data were noted. Two groups of patients-those who underwent gross-total resection (GTR) and those who underwent subtotal resection (STR)-were compared using the Mann-Whitney U-test for continuous and ordinal variables and the Fisher exact test for categorical variables. Differences were considered statistically significant at p ≤ 0.05. Twenty-eight patients were identified, with a median age of 43 years at the index surgery. The median postoperative follow-up duration was 107 months (range 5-372 months). All patients presented with pain. Other common presenting symptoms were weakness (25.0%), sphincter disturbance (21.4%), and numbness (14.3%). GTR was achieved in 19 patients (68%) and STR in 9 (32%). Preoperative weakness and involvement of the sacral spinal canal were more common in the STR group. Tumors were larger and spanned more spinal levels in the STR group compared with the GTR cohort. Postoperative modified McCormick Scale grades were significantly higher in the STR cohort compared with the GTR group (p = 0.00175). Seven of the 9 STR patients (77.8%) underwent reoperation for recurrence at a median of 32 months from the index operation, while no patients required reoperation after GTR, for an overall reoperation rate of 25%. Findings of this study emphasize the importance of tumor size and location-particularly involvement of the sacral canal-in determining resectability. Reoperation for recurrence was necessary in 78% of patients with subtotally resected tumors; none of the patients who underwent GTR required reoperation. Most patients had stable neurological status postoperatively.

Pattern of Autonomic Involvement in Adult Patients with Guillain Barre Syndrome in a Tertiary Hospital

Background: Guillain Barre Syndrome (GBS) is an acute post infectious immune mediated peripheral neuropathy with a marked variation in pathology, clinical presentation and prognosis. Autonomic dysfunction is one of the important manifestations of GBS which may lead to significant morbidity and mortality. Objective: The aim of the study is to assess the autonomic involvement, to determine its frequency and pattern of involvement in adult patients with GBS Methods: An observational, descriptive, cross sectional study was carried out in the Department of Neurology, BSMMU, Dhaka from March, 2015 to September, 2017. Total 43 patients of GBS and 35 apparently healthy controls were recruited as the study population. On the basis of nerve conduction study patients were classified into different groups: acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor sensory axonal neuropathy (AMSAN) and other variants. Disability status at the time of autonomic testing was measured by Hughes functional grading scale. The following tests of autonomic nervous system were performed in both patients and controls 1) resting heart rate and heart rate on changing posture (30: 15 ratio) 2) supine blood pressure and blood pressure on changing posture 3) heart rate response to valsalva maneuver 4) heart rate response to deep breathing and E: I ratio 5) sphincter disturbance by symptoms questionnaire. Results: The mean age of patients was 35±12 years (range18 to 65 years) and 58.1% were male. Around 88.4 % of patients showed some sort of autonomic dysfunction. Variation of heart rate by different maneuver like posture change, deep breathing and valsalva maneuver was found commonly. Among them 30:15 ratio was abnormal in majority of the patients (82.4%) followed by abnormal max-min HR/min (58.1%) and abnormal valsalva ratio (37.2%). Other abnormalities were postural hypotension (38.2%), sinus tachycardia (25.6%), hypertension (16.3%), hypotension (2.7%), sinus arrhythmia (4.7%), constipation (30%), urinary retention (7%) and urinary incontinence (4.7%). Conclusion: In this study different patterns of autonomic dysfunction was found in 88.4% of patients with GBS involving both sympathetic and parasympathetic components. The present study found no significant association between autonomic dysfunction and motor disability scores. Thus autonomic function assessment is essential in every patient with GBS in addition to motor & sensory function. Bangladesh Medical Res Counc Bull 2022; 48(3): 174-179

A case series of pediatric neurobrucellosis: a rare complication to a common disease.

The first case is from a rural area and presented with a prolonged fever associated with profuse sweating, which was complicated later by headache and sudden left-sided weakness associated with urine incontinence without signs of meningeal irritation. Laboratory and radiological tests confirmed the diagnosis of NB after other cerebral infections were ruled out, and the patient received the full brucella regimen and recovered well. The second patient presented with a gradual onset of fever that did not respond to conventional treatment. Days later, his condition was complicated by a convulsion that was not preceded by an aura and was not accompanied by symptoms of weakness, increased intracranial pressure, or sphincteric disturbances. He has a history of drinking raw milk, and tests for brucella were positive, ruling out other intracranial infections and masses. He received full brucella treatment and showed good recovery. A patient from an endemic area who has a prolonged fever and neurological symptoms should be considered positive for NB until it is ruled out.

Surfer's myelopathy: a case report

Background: As surfing gains adherents, the injuries derived from its practice become more frequent, one of which is the so-called surfer's myelopathy. Case presentation: We present the case of a patient with an abrupt onset of mild back-lumbar pain, followed by paresthesia and motor involvement of both lower limbs as well as sphincter disturbance in the context of the immediate practice of an aquatic sport. Thoracic spinal cord MRI showed T2 hyperintensities in the central part of the spinal cord between T8-T12. Surfer's myelopathy is a nontraumatic spinal cord injury, of vascular etiology, caused by the prolonged hyperextension of the spine. Conclusion: The importance of this work lies in being one of the few in Peru addressing this pathology and the need of awareness for taking preventive measures by young athletes.

Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China.

The hereditary spastic paraplegia (HSP) is a rare hereditary disease in nervous system due to the damage of corticospinal tract. HSP has various inheritance modes, including autosomal dominant inheritance, autosomal recessive inheritance, X-linked inheritance, and mitochondrial inheritance in some cases. At present, there are at least 80 subtypes of HSP. Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype in autosomal recessive inheritance, and its pathogenic factor is KIAA1840 gene, which encodes spatacsin protein. A total of 52 SPG11 patients aged from 4-24 years old have been reported. Their initial symptoms were gait disturbance and/or mental retardation. As the disease develops, they may present with mental retardation, sphincter disturbance, decreased vision, ataxia, amyotrophy, pes arcuatus, ophthalmoplegia, peripheral neuropathy, and others. Except agenesis of the corpus callosum and periventricular white matter changes, patients might show cortical atrophy, ventricular dilation, and cerebellar atrophy, and so on. Chinese SPG11 patients manifested significant clinical and genetical heterogeneity and no obvious gender difference. Of them, 37 pathogenic mutations of KIAA1840 gene were detected, which all introduced truncated mutation of spatacsin protein. KIAA1840 gene frameshift mutation is the most common type of mutation.

Outcomes and Complications of Incomplete Spinal Cord Injury in the Thoracolumbar Region

Background and Aim: Improvement of neurological disorders in patients with incomplete spinal cord injury (SCI) remains an important issue worldwide. This study aimed to explore the outcomes and complications of patients with incomplete SCI in the thoracolumbar region within one year after trauma. Methods and Materials/Patients: In this longitudinal prospective study, patients with traumatic incomplete SCI were studied. The demographic and clinical variables including age, sex, site of injury, motor force, sensory disorder, and sphincter dysfunction were recorded on admission and 3, 6, 9, and 12 months after discharge. SPSS software, version 28 was used for data analysis. Results: Out of 120 patients with incomplete SCI, 100 patients were included. The mean age of the participants was 32.39±7.47 years and the mean duration of hospitalization was 14.78±3.81 days. The most common injury site was T12-L1 (43%). Over time, the average motor force of patients increased. The lowest and highest averages were observed during hospitalization and 12 months after discharge, respectively. No significant difference was observed in the paired comparison of motor force at 3, 6, 9, and 12 months after discharge. The frequency of sensory disorders decreased over time. The highest and lowest frequencies belonged to the hospitalization time (81%) and 12 months after discharge (9%). No significant difference was observed between the time intervals of 6, 9, and 12 months, as well as the time of hospitalization and discharge. Over time, the frequency of sphincter dysfunction decreased. Pulmonary infection (12%) and bed sores (9%) were the complications observed during hospitalization. Complications observed 12 months after admission were bed sores (21%) and venous thrombosis (17%). Conclusion: The highest recovery rate of motor force was recorded within the first three months. The frequency of sensory and sphincter disturbances in patients decreased over time with the highest recovery rate during the first six months after the injury.

Are we meeting the standards set for informed consent in spinal surgery?

Informed consent empowers patients to exercise their autonomy and actively participate in their medical care. Guidance published by the British Association of Spine Surgeons (BASS) lists three components of consent: provision of information booklets, patient-centred dialogue and completion of appropriate consent forms. The aim of the study was to review the quality of the spinal surgery consent process against the BASS guidance in a single tertiary neurosurgery centre in London. Retrospective review of clinic letters and consent forms was performed for 100 consecutive cases of elective, non-instrumented spinal decompression surgeries performed in 2019. Documentation was graded for inclusion of the intended benefit (improvement of pain/prevention of neurological deterioration), alternative management options (including no treatment), surgical options and risks (infection, bleeding, paralysis, sphincter disturbances, dural tear and recurrence). Provision of supplementary information booklets was recorded. Two-tailed Fisher exact test was used to calculate statistical significance where appropriate. Documentation of indications and risks of elective spinal surgery, specifically risk of recurrence (62%) and sphincter disturbance (85%), was suboptimal on the consent forms. Documentation of these risks was also poor in clinic letters (<50%). Alternative treatment options were explained in less than half of the clinic letters, and there was no documentation of information booklet provision prior to elective surgeries. Lack of informed consent plays a major role in medical malpractice claims in spinal surgery. Poor documentation puts the surgeon in a liable position. BASS guidance could be implemented to create a more standardised process of consent in spinal surgery.

Top of basilar artery infarction

Rationale: The posterior circulation represents 20% of blood supply to the brain, and its occlusion, commonly by embolism, causes brainstem, cerebellar, and lower cerebral infarctions. The clinical presentation varies from mild symptoms to severe neurological deficits or death. The duration of intervention is vital, commonly with antithrombotic drugs or through intervention. Patient concerns: The first case was a 36-year-old-female admitted due to snakebite. On admission, she developed acute kidney injury, sepsis, and compartment syndrome, for which she underwent fasciotomy, improved, and was discharged. Two days later, she presented with sudden onset of left-sided weakness. The second was an 85-year-old male with hypertension and end-stage renal disease on regular hemodialysis who presented with high-grade continuous fever associated with rigor, confusion, and decreased level of consciousness for 2 days. The third case was a 30-year-old woman admitted to the emergency department because of an abrupt loss of consciousness that occurred when she was going to the bathroom; she was unable to speak, swallow, or move her limbs. There was no fever, sphincteric disturbance, or seizure. She had a history of severe chronic bifrontal headache that started 4 months prior to elective cesarean section. Diagnosis: The patients were diagnosed as top of basilar artery infarction. Interventions: The first patient received enoxaparin, intravenous fluids, proton-pump inhibitors, antibiotics, and rivaroxaban. The second patient received intravenous antibiotics, dual antiplatelet therapy, enoxaparin, blood transfusions, and frequent hemodialysis sessions. The third patient received intravenous fluids, antibiotics, and oral anticoagulants (rivaroxaban 15 mg twice daily for 2 weeks then 20 mg once daily). Outcomes: The 3 patients were discharged following pharmacological treatment. The first and third cases showed improvement in their symptoms. However, the second patient developed bilateral epistaxis and bleeding after medication and did not show improvement in his symptoms; however, he died due to intradialytic hypotension. Lessons: We reported 3 Sudanese patients who had complicated medical sequelae due to top basilar artery occlusion, received anticoagulants and supportive therapy, and showed variable recovery over weeks, with the exception of 1 patient who died after follow-up.

The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Anorectal Abscess, Fistula-in-Ano, and Rectovaginal Fistula.

The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Anorectal Abscess, Fistula-in-Ano, and Rectovaginal Fistula.

New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.

ObjectiveSpastic paraplegia‐12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon‐2 (RTN2) mutations. We described the clinical and genetic features of three SPG12 patients, functionally explored the potential pathogenic mechanism of RTN2 mutations, and reviewed RTN2‐related cases worldwide.MethodsThe three patients were 31, 36, and 50 years old, respectively, with chronic progressive lower limb spasticity and walking difficulty. Physical examination showed elevated muscle tone, hyperreflexia and Babinski signs in the lower limbs. Patients 1 and 3 additionally had visual, urinary, and/or coordination dysfunctions. Patient 2 also had epileptic seizures. RTN2 mutations were identified by whole‐exome sequencing, followed by Sanger sequencing, segregation analysis, and phenotypic reevaluation. Functional examination of identified mutations was further explored.ResultsThree variants in RTN2 were identified in Patient 1 (c.103C>T, p.R35X), Patient 2 (c.230G>A, p.G77D), and Patient 3 (c.337C>A, p.P113T) with SPG, respectively. Western blotting revealed the p.R35X with smaller molecular weight than WT and other two missense mutants. Immunostaining showed the wild type colocalized with endoplasmic reticulum (ER) in vitro. p.R35X mutant diffusely distributes in the cytoplasm, losing colocalization with ER. p.G77D and p.P113T co‐localized with ER, which was abnormally aggregated in clumps.InterpretationIn this study, we identified three cases with complicated SPG12 due to three novel RTN2 mutations, respectively, presenting various phenotypes: classic SPG symptoms with (1) visual abnormalities and sphincter disturbances or (2) seizures. The phenotypic heterogeneity might arise from the abnormal subcellular localization of mutant Reticulon‐2 and improper ER morphogenesis, revealing the RTN2‐related spectrum is still expanding.

Review/perspective on hysterical paralysis: A diagnosis of exclusion for spinal surgeons.

Background: Hysterical paralysis (HP) and/or conversion disorders (CD) are diagnoses of exclusion for spine surgeons. Before assigning this diagnosis to a patient, they must first undergo a full neurodiagnostic evaluation (i.e., X-rays, MR, CT/Myelo-CT) to rule out organic spinal pathology. Here, we reviewed select articles highlighting how to differentiate HP/CD patients from those with spinal disease.Methods: Several case studies and small series of patients with HP/CD were included in our analysis. Notably, prior to being assigned the diagnoses of HP/CD, patients had to first undergo X-ray, MR, CT, and/or Myelo-CT evaluations to rule out spinal disorders; typically, their neurodiagnostic studies were normal.Results: Patients with HP/CD often presented with varying clinical complaints of motor paralysis despite intact reflexes, normal sensory examinations, and lack of sphincter disturbance (i.e. intact rectal tone). Further, go and nogo functional MRI (fMRI) examinations demonstrated inconsistencies in areas of brain activation for patients with HP/CD complaints.Conclusions: HP/CD are diagnoses of exclusion, and patients should first undergo a full panel of neurodiagnostic studies to rule out organic spinal disease. While those with HP/CD should not have unnecessary operations, those with real “surgical pathology” should have appropriate spine surgery performed in a timely fashion.

Idiopathic Aqueductal Stenosis: Late Neurocognitive Outcome in ETV Operated Adult Patients.

ObjectiveThe aim of the present study is to evaluate a neurocognitive outcome in patients affected by late-onset idiopathic aqueductal stenosis (LIAS) who underwent endoscopic third ventriculostomy (ETV).Materials and MethodsA prospective study was conducted between January 2015 and December 2017 in a series of 10 consecutive adult patients referred to the Neurosurgery Department of IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy. All the adult patients admitted with absence of CSF flow through the aqueduct in phase-contrast (PC)—MRI sequences or a turbulence void signal in T2—weighted images in midsagittal thin-slice MR sequences underwent a specific neuroradiological, neurological, and neurocognitive assessment pre- and postoperatively.ResultsAll patients affected by gait and sphincter disturbances improved after ETV. Attentive and executive functions as well as visuo-spatial memory and verbal executive functions improved in several patients. Similarly, the affective and behavioral scales improved in almost 50% of the patients. No major complications have been recorded, and no patients required a second surgery for shunt placement.ConclusionEndoscopic third ventriculostomy represents a safe and effective surgical procedure for the treatment of LIAS. In addition to neurological improvement, we demonstrated also postoperative neurocognitive improvement mainly in attentive and executive functions, visuo-spatial memory, verbal executive functions, and behavioral and affective domains.

Is Cauda Equina Surgery Safe Out-of-Hours? A Single United Kingdom Institute Experience

Cauda equina syndrome (CES) can have devastating neurological sequelae if surgical treatment is delayed. However, out-of-hours surgery (weekdays from 6:00 pm to 8:00 am and all weekend operations) can potentially result in higher rates of intraoperative complications, resulting in worse outcomes. In the present study, we have described our outcomes for patients with CES during an 8-year period (December 2011 to October 2019) with the aim of assessing the risk of out-of-hours surgery. We performed a retrospective analysis of inpatient events and outcomes at 6 months of follow-up. Patient demographics, symptoms, and management data were extracted, and a risk factor analysis was performed using logistic regression. The outcome measures were the incidence of complications and symptom changes at follow-up. Symptom outcome changes between 2 time points were analyzed using repeated measures. A total of 278 patients were included in the present study. Surgery out-of-hours (P= 0.018) and prolonged operations (P= 0.018) were significant risk factors for intraoperative complications. Improved outcomes at 6 months of follow-up were found for lower back pain, sciatica, altered saddle sensation, and urinary sphincter disturbance, with no significant changes for the remaining symptoms. Out-of-hours surgeries did not significantly affect individual symptom outcomes. Our analysis has suggested that emergency decompressive surgery for patients with CES does not result in worsening of outcomes with out-of-hours surgery compared with in-hours. However, our findings also showed that no clear benefit exists to expediting surgery for those with severe presentations. Thus, decompressive surgery should be undertaken at the earliest possible time to safely do so.