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OBJECTIVE This study aimed to explore the migration process of the conus medullaris (CM) in early infancy using infant MRI and to evaluate the application of MRI for locating the infant CM level. METHODS The authors retrospectively analyzed the CM level on the lumbosacral MR images of 26 term infants aged < 3 months who were classified into three groups according to age. The authors numbered the CM level in each patient and analyzed the range and average of the CM level of the cohort. The authors studied the linear correlation between CM level and postnatal days with linear regression analysis, 1-way ANOVA, and the least significant difference test. RESULTS The CM level ranged from the superior border of the L1 vertebra to the top third of the L3 vertebra. About 96.2% of infants had CM higher than the superior border of the L3 vertebra. On average, CM was located between the L1–2 intervertebral disc and the inferior border of the L2 vertebra (mean ± SD score 1.64 ± 1.14). The three groups had no significant statistical difference in CM level (F = 1.071 and p = 0.359; groups 1 and 2, p = 0.408; groups 1 and 3, p = 0.170; groups 2 and 3, p = 0.755). CM level had no linear regression correlation with postnatal days within the first month (r2 = 0.061, F = 0.654, p = 0.438) or within the first 3 months (r2 = 0.002, F = 0.056, p = 0.816). CONCLUSIONS The CM level reaches the normal adult level by birth in term infants and does not ascend during childhood. On average, the CM was between the L1–2 intervertebral disc and the inferior border of the L2 vertebra in term infants. Considering the possibility of physiologically low-lying CM, the authors agree that normal CM is located above the L3 level in term infants and CM at the L3 level could be equivocal and should be investigated with other clinical data. The study data suggest that MRI is an accurate and valuable method for determining the CM level in term infants.

OBJECTIVE Although evaluating tissue elasticity has various clinical applications, spinal cord elasticity (SCE) in humans has never been well documented. In this study, the authors aimed to evaluate the impact of compression on human SCE in vivo. METHODS The authors prospectively assessed SCE using intraoperative shear wave elastography (SWE). All consecutive patients undergoing spinal cord (SC) decompression (laminectomy or corpectomy) between June 2018 and June 2019 were included. After intraoperative exposure of the patient’s dura mater, at least three SWE measurements of the SC and its coverings were performed. Intraoperative neurological monitoring in the form of motor and somatosensory evoked potentials was utilized. Cases were divided into two groups based on the state of SC compression following bone removal (laminectomy or corpectomy): patients with adequate decompression (the decompressed SC group [DCG]) following bone removal and patients with remining compression, e.g., compressing tumor or instability (the compressed SC group [COG]). RESULTS A total of 25 patients were included (8 females and 17 males) with a mean age of 48.28 ± 21.47 years. Most cases were degenerative diseases (10 cases) followed by tumors (6 cases), and the compression was observed at cervical (n = 14), thoracic (n = 9), and conus medullaris (n = 2) levels. The COG (6 cases) expressed significantly higher elasticity values, i.e., greater stiffness (median 93.84, IQR 75.27–121.75 kPa) than the decompressed SC in DCG (median 9.35, IQR 6.95–11.22 kPa, p < 0.001). Similarly, the compressed dura mater in the COG was significantly stiffer (mean ± SD 121.83 ± 70.63 kPa) than that in the DCG (29.78 ± 18.31 kPa, p = 0.042). Following SC decompression in COG, SCE values were significantly reduced (p = 0.006; adjusted for multiple comparisons). Intraoperative monitoring demonstrated no worsening from the baseline. CONCLUSIONS The current study is to the authors’ knowledge the first to quantitatively demonstrate increased stiffness (i.e., elasticity value) of the human SC and dura mater in response to external compression in vivo. It appears that SCE is a dynamic phenomenon and is reduced following decompression. Moreover, the evaluation of human SCE using the SWE technique is feasible and safe. Information from future studies aiming to further define SCE could be valuable in the early and accurate diagnosis of the compressed SC.

Introduction To the best of our knowledge, here we present two post-COVID19 longitudinally extensive transverse myelitis (LETM) with atypical presentations CASE PRESENTATIONS: A 44-year-old male who did not have any previous medical condition and a 73-year-old male foreigner who did not have any disease other than type 2 diabetes mellitus were admitted to our neurology clinic in the same period with similar clinical presentations of transverse myelitis. Upon admission, paraplegia and urinary-fecal incontinence were observed in their neurological examination. Neurological complaints had started within approximately 3-4 weeks following the resolution of the COVID-19 infection. Thoracic lower segment LETM was observed on spinal magnetic resonance imaging (MRI) in one of the patients, and long segment myelitis extending from the lower thoracic segment to the conus medullaris was observed in the other one. No significant diagnostic positivity was present in their diagnostic evaluation. In both cases, we assume a post-infectious etiology in terms of secondary immunogenic overreaction following COVID-19. Conclusion Our patients improved with multiple treatments such as methylprednisolone, intravenous immunoglobulin, and plasmapheresis. Whether post-infectious myelitis behaves differently from other viral infections after COVID-19 is currently unclear. Long lag times appear to be a post-infectious neurological complication resulting from the host response to the virus.

OBJECTIVE To explore the migration process of the conus medullaris (CM) and propose a normal range of CM levels during the third trimester. METHOD We retrospectively collected the ultrasonographic and clinical data of 588 fetuses during the third trimester. We located the CM and assigned scores. One-way analysis of variance and linear regression analyses were used to statistically analyze CM migration. Statistical significance was set at p

A 65-year-old right-handed retired male firefighter presented following a fall. He had a 3-month history of scrotal paraesthesia that had insidiously evolved to bilateral leg weakness. Following hospital admission, he developed acute urinary retention requiring catheterisation. He had a history of ulcerative colitis, which was well controlled with mesalazine. He was an ex-smoker and did not drink alcohol. Cranial nerve and upper limb examinations were unremarkable. On lower limb examination, tone was normal. He had mild (Medical Research Council grade 4/5) bilateral and symmetrical weakness involving hip and knee flexion, and ankle dorsiflexion. There was a sensory level to T7. Joint position was impaired in the lower limbs, and vibration sense was absent below the xiphisternum. Knee and ankle jerks were absent, and plantar responses were mute. Although there were no obvious upper motor neurone signs, three clinical signs on lower limb neurological examination suggested localisation to the spinal cord. Firstly, the presence of a sensory level at T7 implied involvement of the thoracic cord. Secondly, the pyramidal pattern of weakness (flexors preferentially affected more than extensors in the lower limbs) suggested corticospinal tract dysfunction, and finally, the acute sphincter dysfunction in the context of lower limb weakness pointed to involvement of the lower cord. It is important to keep in mind that peripheral lesions affecting the cauda equina may also present with a sphincter disturbance, but this would not explain the sensory level. Cord pathologies can present without upper motor neurone signs particularly in the acute phase (spinal shock). However, this patient’s symptoms had started 3 months before admission. Conus medullaris lesions often have a mixture of upper and lower motor neurone signs with early sphincter dysfunction. Nevertheless, if this patient has a lesion involving the conus medullaris it would have to extend upwards to T7 to explain the …

Background Spinal schwannomas that arise from spinal nerve root sheaths are the most common intradural extramedullary spinal tumours and are often accompanied by nerve roots or spinal cord irritation symptoms. The phenomenon of spinal schwannoma causing subarachnoid haemorrhage (SAH) is rare, with ependymoma of the conus medullaris accounting for most cases. Case report A 45-year-old man was admitted to our hospital due to progressive lower limb weakness and sudden back pain after hard physical work. The patient had not been able to walk for 2 hours upon admission. An emergency magnetic resonance imaging (MRI) scan showed that the spinal cord at the C6-T4 level was severely compressed by a subdural mass. During the emergency operation, exploration of the dura and arachnoid mater revealed a fresh blood clot covering a tumour located on the ventral side of the spinal cord. The size of the tumour was approximately 3 × 2 × 1 cm without adhesion to the surrounding tissue, but the drainage vein was ruptured. Postoperative pathology showed that the tumour was a schwannoma with areas of fresh haemorrhage and focal necrosis. Conclusions Spinal schwannomas presenting with SAH are rare events. In our opinion, spinal pathology with rapid progression of neurological symptoms requires early diagnosis and emergency management. Complete excision of haemorrhagic tumours is the goal of treatment to prevent recurrence, which can effectively avoid irreversible damage to the spinal cord resulting from spinal cord compression.

OBJECTIVE The background for this investigation was the dramatic course of a 14-year-old girl with a spontaneous hemorrhage in the area of the conus medullaris resulting in a complete cross-sectional syndrome with bladder and bowel dysfunction. Despite immediate surgical treatment, the patient showed close to no postoperative improvement. Subsequent histopathological examination of the removed masses revealed a cavernoma. To better understand the link between the site and symptoms of conus medullaris lesions, the authors performed a literature search and then histological examination of the conus medullaris of 18 cadaveric specimens from body donors. METHODS After a literature search regarding the histological features of the structure of the conus medullaris did not lead to satisfying results, the authors performed histological examination of the conus medullaris in 18 cadaveric specimens from body donors. The largest (a) and smallest (b) diameters of the conus medullaris were measured, noting individual variations in the distance from the caudal ending of the gray matter to the macroscopically visible end of the conus medullaris. Correlations of these differences with sex, body height, gray matter transverse diameter, and cross-sectional area at the end of the gray matter were analyzed. RESULTS Gray matter displayed in the form of a butterfly figure was found along almost the entire length of the conus medullaris. The specific slide containing the end of the gray matter was noted. The distance between the caudal ending of the gray matter in the conus and the macroscopical end of the conus medullaris was defined as the gray matter to cone termination (GMCT) distance. There were great individual variations in the distance from the caudal ending of the gray matter to the macroscopically visible end of the conus medullaris. Analysis of the correlations of these differences with sex, body height, gray matter transverse diameter, and cross-sectional area at the end of the gray matter showed no significant sex-specific differences in the GMCT distance. Patient body height and transverse diameter at the end of the gray matter were found to be correlated positively with the GMCT distance. Moreover, greater height also correlated positively with the cross-sectional area at the end of the gray matter. CONCLUSIONS This report is, to the authors’ knowledge, the first published description of the histological structure of the conus medullaris and can serve as the basis for a better understanding of neurological deficits in patients with a conus medullaris syndrome. Findings that gray matter can be detected far into the conus medullaris, with large individual differences in the endpoint of the gray matter, are important for operative care of intramedullary masses and vascular malformations in this area. It is therefore important to use electrophysiological monitoring during these operations.

The aim of the present systematic review and meta-analysis was to identify when the ascent of the conus medullaris occurs in human foetuses considering differences in evaluation methods and sample characteristics. Five databases were searched for relevant articles using different combinations of keywords. Article selection and data extraction were performed independently by two reviewers. Disagreements were resolved by a third reviewer. The variables were distributed into four groups according to the gestational age of the specimens: I (13 to 18 weeks); II (19 to 25 weeks); III (26 to 32 weeks); IV (33 weeks to the probable date of birth). Eighteen articles were included. The majority used imaging exams as the evaluation method. Cadaveric dissections were reported in the remaining articles. Only morphological studies were included in the meta-analysis. Significant ascent occurs between groups I and III as well as groups II and IV. Despite the considerable heterogeneity among the studies included in the present review, the findings enabled the determination that the conus medullaris reaches its normal birth level by the 26th week. Further analyses should be performed based on nationality and ethnicity to diminish the heterogeneity of the data.

Background "Diffuse midline glioma, H3 K27M-mutant" (DMG) mainly arises within the pontine, thalamic, and spinal cord regions. Because of the rarity of spinal cord gliomas, the general knowledge surrounding DMGs is mainly based on pontine and thalamic gliomas, whereas tumor location tends to influence the clinicopathological features and prognosis. Objective To determine the clinicopathological characteristics and molecular profiles of DMGs located in the spinal cord. Methods The clinical and molecular pathologic features and prognosis were comprehensively analyzed in a series of 44 patients with spinal cord DMGs. Results The median age was 36 yr, and 88.7% of patients (39/44) were adults (≥18 yr). Histopathologically, malignant grades included grade II (16 cases), grade III (20 cases), and grade IV (8 cases). Compared with patients with histological grade IV, patients with lower histological grade (grade II/III) were older (37 vs 24 yr, P = .020) and were associated with longer overall survival (24.1 vs 8.6 mo, P = .007). All 30 tested tumors were isocitrate dehydrogenase (IDH) wild type, and 96% of cases (22/23) presented with unmethylated O6-methylguanine-DNA methyltransferase. Univariate and multivariate analyses showed that histological grade and presurgery McCormick Scale scores were independent prognostic factors for overall survival, whereas extensive surgical resection and chemoradiotherapy were not significantly associated with improved survival. The most frequent anatomic locations were the cervical enlargement (C4-T1, n = 16) and conus medullaris (T12-L1, n = 13), which exhibited distinctive clinical characteristics and molecular features. Conclusion The findings provide guidelines for the evidence-based practice of the specialized management of spinal cord DMGs.

Objective: To modify the current neural tube defect (NTD) classification for fetal medicine specialists, and to investigate the impact of prenatal ultrasound conus medullaris position screening on the detection rate of closed spinal dysraphism and pregnancy outcomes. Materials and methods: The clinical data of 112 patients prenatally diagnosed with neural tube defects in Taiji clinic from 2008 to 2018 were retrospectively analyzed. All cases were classified following the modified classification. We compared the detection rate before and after introducing the conus medullaris screening and pregnancy outcomes for NTD types. Results: Closed spinal dysraphism type prevailed in our sample (43.8%). The median gestational age at the time of detection for cranial dysraphism was 13.3 weeks, open spinal dysraphism was 22.0 weeks, and closed spinal dysraphism was 22.6 weeks. All cranial dysraphism (n = 43) and open spinal dysraphism cases (n = 20) had pregnancies terminated. For closed spinal dysraphism Class 1, the live-birth rate was 100.0% in the cases without other anomalies and 33.3% in the cases with other anomalies, respectively (X2 = 17.25, p

A 67-year-old man presented with headache, middle back pain that radiated to both legs, and paresthesia in the right leg for 1 day. He had eaten raw shrimp 1 week previously. Over the next week after admission, he developed urinary retention and weakness in both legs. The numbness in his right leg expanded to below the umbilicus. Magnetic resonance imaging of the spinal cord showed myelopathy with minimal cord swelling at T9 to the conus medullaris and a hemorrhagic lesion from T10 to T11. A complete blood count on day 28 after the onset of symptoms revealed leukocytosis without eosinophilia and no white blood cells in his cerebrospinal fluid. Results of an immunochromatographic test kit were positive for Angiostrongylus cantonesis but negative for Gnathostoma spinigerum. After a 4-week course of albendazole combined with a tapering dose of dexamethasone, he achieved nearly complete recovery.

We report an anatomical-based association between conus medullaris pial arteriovenous shunt that drain caudally towards the lumbosacral area with very delayed onset of an acquired lumbar epidural shunt, draining secondarily towards intradural veins and responsible for a venous congestive myelopathy with identical clinical symptoms. These patients require close clinical and imaging follow-ups in order to propose adequate treatments before onset of irreversible neurological deficits. MRA should include the lumbo-sacral area in its field of view.

Lipoma of the filum terminale (FL) is an abnormality in which fat is deposited in the filum terminale. This lipoma is often detected by skin abnormalities in the lumbosacral area such as a sacrococcygeal dimple. Some cases may develop tethered cord and become symptomatic. However, the genetic basis of FL is still unclear. This study aimed to determine whether there was a family history of FL or other forms of spina bifida among 54 families of 56 patients with FL and to examine whether there is a familial predisposition in FL. In addition, sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, and the level of conus medullaris between familial and spontaneous cases were evaluated. Of the 54 families of FL patients, there were 48 siblings. Among the 48 siblings, 2 had “occult” FL. The frequency of FL among siblings was estimated to be 4.2% (2/48), which was significantly higher than the sum of previously reported cases of spontaneous FL (0.91%; p = 0.017). However, there was no significant difference in sex, age at diagnosis, presence of symptoms, presence of sacrococcygeal dimple, diameter of filum terminale, or level of conus medullaris between familial and spontaneous cases. To our knowledge, this is the first report on familial FL and examination of the frequency of FL among siblings. The high probability of FL among siblings of FL patients suggests that genetic factors may play a role in FL development.

Introduction: Spinal atypical teratoid/rhabdoid tumour (AT/RT) is exquisitely rare and constitutes 2% of all AT/RTs. Case Presentation: A 6-year-old boy presented with low backache for the last 5 months. MRI of the spine showed a 1.5 × 1.5 × 4.7 cm intradural extramedullary mass extending from D10 to D12, causing compression of the conus medullaris. With a preoperative diagnosis of ependymoma, a gross total resection (GTR) of tumour was performed. Post-operative histopathology showed AT/RT. The tumour cells were immunopositive for cytokeratin, epithelial membrane antigen, smooth muscle actin, and p53 and immunonegative for MIC2, desmin, glial fibrillary acidic protein, and INI1. Post-operative neuraxis MRI revealed post-operative changes (D10–D12) with a 9 mm enhancing lesion at L5-S1 junction suggesting drop metastasis. There was no lesion in brain. Cerebrospinal fluid cytology did not show any malignant cell. The metastatic work-up was normal. He received 3 cycles of chemotherapy with ICE regimen (ifosfamide, carboplatin, and etoposide). Subsequently, he received craniospinal irradiation (CSI)-36 Gy/20 fractions/4 weeks followed by focal boost to primary tumour bed and spinal drop metastasis-14.4 Gy/8 fractions/1.5 weeks. Thereafter, he received 3 more cycles of ICE regimen. End-of-treatment MRI spine showed post-op changes (D10–D12) and 38.9% reduction of the L5-S1 lesion suggesting partial response. Six monthly spinal MRI showed serial reduction of the metastatic lesion leading to complete response (CR) 1 year after completion of treatment. On last follow-up (30 months from the initial diagnosis), he was neurologically intact and in CR. Conclusion: Multimodality management comprising GTR of tumour, CSI followed by focal boost, and multiagent chemotherapy (ICE) can lead to successful outcome in patients with this rare and aggressive spinal tumour.

Objective Conus medullaris teratomas are extremely rare, and the treatment experience has been limited. The purpose of the present study was to evaluate the clinical characteristics, radiological features, surgical outcomes, and prognosis of patients with conus medullaris teratoma. Methods We retrospectively reviewed the data from 39 patients who had undergone surgical resection for conus medullaris teratomas from January 2008 to December 2018. All the operations were performed by 1 senior doctor. The clinical features, pre- and postoperative magnetic resonance imaging findings, pathological features, treatment strategies, and outcomes were analyzed. The neurological status was evaluated using the modified Japanese Orthopaedic Association scale score. Results Of the 39 patients, the mean age was 30.9 years. Of the 39 patients, 20 were male and 19 were female. The symptom duration ranged from 0.3 to 252 months (mean, 61.6 months). Bladder and bowel dysfunction was the most common symptom (76.9%). Total resection was achieved in 25 patients (64.1%), subtotal resection in 11 (28.2%), and partial resection in 3 (7.7%). A mature teratoma was confirmed in all 39 patients. The neurological outcomes were improved 16 patients (45.7%), stable in 14 (40.0%), and aggravated in 5 (14.3%) at a mean follow-up of 62.7 months. Recurrence developed in 1 patient who had undergone subtotal resection. A second surgery with total resection was performed, and the patient's neurological symptoms were stable during follow-up. Conclusions Total surgical resection is the optimal treatment strategy for patients with conus medullaris teratoma. Safe maximum tumor removal and residual tumor inactivation using electrocoagulation are recommended when total resection cannot be achieved. Surgery can provide a low recurrence rate and an acceptable low complication rate.

In conus medullaris and cauda equina surgery, identification of the sacral nerve roots may be uncertain in spite of their anatomical/radiological landmarks. Mapping the sacral roots by recording the muscular responses to their stimulation may benefit from EMG recording of the External Anal sphincter (EAS) in addition to the main muscular groups of the lower limbs. In a consecutive series of 27 lumbosacral dorsal rhizotomy (DRh), authors carried out a prospective study on the reliability of the EMG recording of the EAS for identification of the S1 and S2 sacral roots. An EAS-response was recorded in all the 27 (bilaterally) explored individuals, testifying good sensitivity and selectivity of the method. EAS-responses were obtained in 96.3% of the 54 stimulated sides of the S2 root versus in only 16.66% for the S1 root, so that an absence of response would indicate S1 rather than S2 level. Furthermore, comparison between myotomal distribution of the S1 and S2 roots showed a significant difference (p

Background Spinal dural arteriovenous fistulas (DAVFs) and spinal arteriovenous malformations (AVMs) are relatively rare. Moreover, multiple spinal cord vascular lesions in an individual, such as double DAVFs and DAVF with AVM, are extremely rare. To date, there are only several reported cases of concomitant spinal DAVFs and AVMs. Case Description A 25-year-old woman presented with pain of the right lower limb persisting for 1 month. Spinal magnetic resonance imaging showed prominent signal flow voids in the lumbosacral canal. Spinal digital subtraction angiography (DSA) showed a sacral DAVF fed by the right lateral sacral artery and a spinal intradural AVM at the conus medullaris fed by the anterior spinal artery from the left T11 intercostal artery. The drainage veins in these 2 lesions were respective and without common anastomosis. The diagnosis of concomitant sacral DAVF and conus AVM was made. Microsurgery was performed to excise these lesions successfully in the same operation. The patient's symptoms gradually improved after surgery. Postoperative spinal DSA confirmed the complete disappearance of the 2 lesions. Conclusions The concomitant presence of sacral DAVF and conus AVM is extremely rare. Nonetheless, clinicians should be aware of the possibility of the coexistence of multiple types of spinal vascular lesions in a single patient.

Background Intramedullary metastases to the caudal neuraxis with exophytic extension to the extramedullary space are rare. We describe the unique case of a patient with locally recurrent breast cancer who developed an intramedullary-extramedullary metastasis to the conus medullaris and cauda equina 22 years after primary diagnosis, the longest interval between primary breast cancer and intramedullary spread to date. We also reviewed the published literature on focal breast metastases to the conus medullaris or cauda equina. Case Description A 66-year-old woman with a history of node-positive estrogen receptor/progesterone receptor–positive, infiltrating ductal carcinoma diagnosed in 1997 and locally recurrent in 2007. Initial treatment included lumpectomy and targeted chemoradiation with mastectomy and hormonal therapy at recurrence. Twelve years later, she developed 6 weeks of bilateral buttock and leg pain without motor or sphincter compromise. Magnetic resonance imaging of the total spine revealed a 2 x 1.7 cm bilobed intradural, intramedullary-extramedullary, homogenously enhancing, T1-and T2-isointense lesion involving the conus medullaris and cauda equina. She underwent subtotal resection of a hormone receptor–positive breast metastasis. Her pain improved postoperatively and she was stable at 5 months. Conclusions We provide evidence that patients who present with symptoms of spinal neurologic disease and a history of hormone receptor–positive breast cancer require high suspicion for metastatic pathology, despite significant time lapse from primary diagnosis. The tumor may involve both the intramedullary and extramedullary space, complicating resection. Symptom relief and quality of life should guide resection of metastatic lesions to the caudal neuraxis.

BackgroundWe propose two new concepts, the Filum Disease (FD) and the Neuro-cranio-vertebral syndrome (NCVS), that group together conditions thus far considered idiopathic, such as Arnold-Chiari Syndrome Type I (ACSI), Idiopathic Syringomyelia (ISM), Idiopathic Scoliosis (IS), Basilar Impression (BI), Platybasia (PTB) Retroflexed Odontoid (RO) and Brainstem Kinking (BSK).MethodWe describe the symptomatology, the clinical course and the neurological signs of the new nosological entities as well as the changes visible on imaging studies in a series of 373 patients.ResultsOur series included 72% women with a mean age of 33.66 years; 48% of the patients had an interval from onset to diagnosis longer than 10 years and 64% had a progressive clinical course. The commonest symptoms were: headache 84%, lumbosacral pain 72%, cervical pain 72%, balance alteration 72% and paresthesias 70%. The commonest neurological signs were: altered deep tendon reflexes in upper extremities 86%, altered deep tendon reflexes in lower extremities 82%, altered plantar reflexes 73%, decreased grip strength 70%, altered sensibility to temperature 69%, altered abdominal reflexes 68%, positive Mingazzini’s test 66%, altered sensibility to touch 65% and deviation of the uvula and/or tongue 64%. The imaging features most often seen were: altered position of cerebellar tonsils 93%, low-lyingConus medullarisbelow the T12L1 disc 88%, idiopathic scoliosis 76%, multiple disc disease 72% and syringomyelic cavities 52%.ConclusionsThis is a paradigm shift that opens up new paths for research and broadens the range of therapeutics available to these patients.

Although terminal syringomyelia suggests a tethered spinal cord, a consensus has still not been established for surgical indications, when there are no associated abnormalities or only minor associated abnormalities. We analyzed surgical outcomes of sectioning a filum terminale in patients with terminal syringomyelia to elucidate the significance of untethering surgery. Fifty-seven pediatric patients with terminal syringomyelia who underwent untethering via sectioning the filum terminale between 2007 and 2018 were retrospectively analyzed. Postoperative outcomes of symptoms and MRI findings were evaluated. Of 57 patients, 40 had other associated abnormalities (25 with filar lipoma and 29 with low conus medullaris) that could be responsible for tethered cord. Nineteen patients had symptoms. The mean age at the time of surgery was 18 months (3–96 months). The mean follow-up period was 3.3 years (1–9 years). Preoperative symptoms improved in 9 patients (47%) after surgery. At 1 year after the surgery, the size of syringomyelia decreased in 19 (33%), increased in 4 (8%), and did not change in 34 (69%) patients. Of 28 patients who were followed up for more than 3 years, the size decreased in 17 (61%), increased in 1 (4%), and did not change in 10 (35%). When untethering was performed by sectioning a filum terminale, the size of terminal syringomyelia decreased in more than half of patients in the long term. Sectioning the filum terminale demonstrated the possibility of radiological and clinical improvement in patients with terminal syringomyelia.

Spine ultrasound (US) examinations are widely performed in neonates and infants with sacral dimple to exclude associated congenital malformations. Increased utilization of, and improvements in, sonographic technology has resulted in the frequent identification of echogenic filum terminale (FT) containing fat below the conus medullaris, termed FT lipoma or fatty FT. We examined the value of screening US, especially for diagnosis of FT lipoma, in infants with “simple sacral dimple.” This study was a retrospective review of spinal US and magnetic resonance imaging (MRI) findings performed in our hospital on full-term and preterm infants with simple sacral dimple. We reviewed the clinical records and spinal sonographic scans of 337 patients, and the MRI scans of 40 patients with simple sacral dimple. We evaluated the thickness and echogenicity of FT on US, and the presence of fat in the FT was determined by MRI. In total, 50 of the 337 patients showed strong echogenic FT on US. Correlation with MRI data was possible in 40 of the 50 patients with strong echogenic FT. MRI scans of all 40 of these patients revealed the presence of fat in the FT. The maximum thickness in the strong echogenic area of the FT lipomas of these 40 patients was 1.7 ± 0.4 mm (range 1.2–2.5 mm), and the minimum thickness was 1.1 ± 0.2 mm (range 0.8–1.4 mm). Among the 40 infants, 13 (32%) had maximum FT thickness > 2 mm (mean thickness 2.2 ± 0.2 mm; range 2–2.5 mm) and 27 (68%) had echogenic FT

Background Epidermoid cysts of the spinal cord may rupture, resulting in keratin dissemination in the subarachnoid space, in the ventricles, and along the central canal of the spinal cord causing meningitis, myelopathic changes, or hydrocephalus. Case Description A 53-year-old woman with no past medical history presented with a 2-week history of headache located in the occipital region associated with neck pain. Brain magnetic resonance imaging demonstrated multiple fat droplets scattered throughout the subarachnoid and intraventricular spaces with significant edema of the right posterior temporoparietal lobes with trapping of the right temporal horn of the lateral ventricle and atrium. An intracranial lesion could not be observed in the study. The spinal region was suspected as the possible culprit, and spinal imaging showed a large cystic lesion at the level of the conus medullaris. The patient underwent neuronavigation endoscopic exploration of the right lateral ventricle with flushing of the keratin particles followed by a posterior lumbar decompression with resection of the epidermoid cyst. Pathology was consistent with an epidermoid cyst. Successful recovery with improvement in symptoms was quickly observed. Conclusions When an epidermoid cyst is suspected but no intracranial lesion is found, the intraspinal area should be studied. Rupture of a spinal epidermoid cyst may cause meningitis and inflammation producing obstructive hydrocephalus. We present this rare entity and describe the diagnostic and surgical techniques used.

A 64-year-old man presented for evaluation of proximally pronounced weakness of the arms with preserved facial and lower extremity strength. Symptoms slowly developed over the last 2 years, and the patient's history was notable for severe Listeria monocytogenes meningitis 4 years before presentation, which was adequately treated with antibiotics. On examination, symptoms clinically reassembled man-in-the-barrel syndrome and localized to the cervicothoracic central cord. Blood analysis was unremarkable, and CSF analysis showed no recurrent or persistent infection. Spinal MRI revealed pockets of sequestered CSF from C3 to C4 and areas of CSF space effacement from C3 to T12. MRI findings were interpreted as cord tethering suggestive of adhesive arachnoiditis. CT myelogram showed insufficient contrast agent migration above T10 and contour irregularities of the conus medullaris, confirming the postulated pathomechanism of cord tethering. Final diagnosis was therefore cervicothoracic central cord damage due to cord tethering in the setting of postinfectious adhesive arachnoiditis following bacterial meningitis. The patient failed a course of pulsed methylprednisolone therapy, and symptoms progressed. Best supportive care was provided. The clinical presentation of adhesive arachnoiditis is variable, and advanced imaging techniques and invasive studies such as CT myelogram may be required to establish the diagnosis. Timely diagnosis is warranted as early surgical or medical therapy can improve symptoms.

Background Spinal AVF (SAVF), a potentially treatable cause of myelopathy, remains a challenging diagnosis. Its rarity and non-specific imaging findings often result in misdiagnosis despite a high index of clinical suspicion. The classically described high T2 signal in the spinal cord or prominent vascular flow voids in the intradural space were not infrequently missed on initial imaging, only to be picked up at follow-up imaging after progression of symptoms. Additionally, small sized fistulas( Case presentation First was a 50-year-old man presented with spastic paraparesis and was found to have an AVF at the cervical region arising from the vertebral artery. Second, a 45-year-old man with acute paraplegia post-operatively, initially treated for a transverse myelitis before lumbar region AVF was detected. Thirdly, a 27-year-old man presented with subacute lower thoracic myelopathy and deteriorated after corticosteroid treatment. The last patient, who initially appeared to have conus medullaris/cauda equina syndrome had a SAVF at the mid thoracic level. Presentation varied with some exhibiting acute deterioration mimicking other spinal cord pathology such as inflammatory disorders. All patients eventually underwent endovascular treatment with successful embolization of SDAVF. None of them exhibited further neurological deterioration after embolization. Conclusion Successful treatment of SAVF is possible provided the diagnosis is made early, allowing timely intervention. Certain clues may aid the diagnosis. Firstly, arteriovenous fistula can be located distant to the clinical localization of myelopathy resulting in the unexpected longitudinally extensive spinal cord signal change. This clinical-radiological discrepancy can be a useful clue in diagnosing SAVF. Secondly, an acute myelopathic presentation immediately post-surgery may be related to SAVF. Other SAVF feature of note includes progressive myelopathy mimicking immune-mediated myelitis among young adults below 30 years of age refractory to immune therapy.

A 31-year-old man presented with a 2-week history of progressive paraparesis, leg numbness and urinary retention. He had no fever. Neurological examination identified paraplegia with hyper-reflexia in both lower limbs. Pain and proprioceptive sensation were decreased below the T7 level. Magnetic resonance (MR) scan of the spine showed a T2-hyperintense lesion extending from the fourth cervical vertebra level to the conus medullaris with the ‘flip-flop sign’ and the ‘candle guttering appearance’ (figure 1). MR scan of the brain was unremarkable. Cerebrospinal fluid (CSF) examination showed an elevated opening pressure (25 cm H2O) with no pleocytosis, glucose 1.7 mmol/L (25% of glycaemia) and protein 1.6 g/L. CSF PCR testing for varicella zoster virus, herpes simplex virus, cytomegalovirus and tuberculous mycobacteria were negative. Serum antiaquaporin 4 antibodies were absent. He …

INTRODUCTION: The etiologies of pediatric spinal cord infarction are commonly cardiovascular problems resulting from hypotensive events from trauma and abdominal aortic surgery. Non-traumatic spinal cord infarction in children is rare and remains difficult to diagnose. We report a case of non-traumatic spinal cord infarction of the conus medullaris in a child who recovered after receiving only rehabilitative treatment. CASE PRESENTATION: A 12-year-old female patient experienced sudden low back pain for 2 days, followed by weakness in the lower extremities and difficulties in micturition. On admission, magnetic resonance imaging indicated spinal cord infarction of the conus medullaris. After initial treatment with prednisone and mannitol, a few weeks of intensive rehabilitation was recommended. Physical therapy focused on improving lower limb strength. A plastic solid ankle-foot orthosis was used with Lofstrand crutches throughout the period of rehabilitation. After 2 months of rigorous therapy, she was able to walk independently. DISCUSSION: Non-traumatic spinal cord infarction of the conus medullaris in children is extremely rare. The current case is unique because it involves a patient who presented with pediatric spinal cord infarction of the conus medullaris and showed remarkable neurological recovery after rehabilitation. The case describes a rare spinal cord infarction in a pediatric patient and emphasizes the importance of providing an accurate diagnosis and treatment.

We describe the clinical course of a 56-yr-old woman without a significant medical history presenting with nontraumatic paraplegia found to have an infarction of the conus medullaris after intensive lumbar hyperextension exercises. This condition, known as surfer's myelopathy, has been described in multiple case reports that attributed a similar mechanism and presentation. We present a case of surfer's myelopathy associated with weightlifting, which has not been previously reported. We conclude that this diagnosis should be considered in patients who present after spine hyperextension activity with nontraumatic paraplegia. Furthermore, we support the nomenclature change to "acute hyperextension myelopathy," better reflecting the underlying pathophysiology.

Cohort study. Long-term urological outcomes in patients with spinal lipoma after prophylactic tethered cord release (TCR) in infancy were investigated. Children’s hospital in Yokohama, Japan. Children under one year of age with spinal lipoma who underwent TCR between 1990 and 2010 were investigated. According to Arai’s classification, lipomas other than filar lipoma were classified into four types: caudal, dorsal, transitional, and lipomyelomeningocele. The level of the conus medullaris was divided into three categories: L3-5, L5/S1, and sacral. Urological outcomes, including the need for clean intermittent catheterization (CIC), urinary incontinence, presence of renal deterioration, and the need for bladder augmentation, were investigated by both lipoma type and level of the conus medullaris. Fifty-three patients met the inclusion criteria. The median follow-up period was 14.2 years (interquartile range 9.6–17.6 years). Of the 53 patients, ten (19%) were on CIC, and six (11%) were incontinent. Overall, two patients (4%) had renal deterioration detected by DMSA renal scan, and two (4%) needed augmentation cystoplasty. Of the lipoma types, transitional type showed the worst outcomes with respect to need for CIC (54%) and urinary incontinence (38%). There were no significant differences in renal deterioration and the rate of bladder augmentation by lipoma type. No urological outcomes were significantly associated with conus level. Even after prophylactic TCR in infancy in children with spinal lipoma, 19% of patients needed CIC in long-term follow-up. Of the lipoma types, transitional type showed the worst outcomes with respect to need for CIC and urinary incontinence.

Objective Spinal dural arteriovenous fistulas (DAVFs) are rare but can cause serious gait and micturition disturbances. Delays in diagnosis and treatment result in poor clinical outcomes; however, the process of misdiagnosis is unknown. Methods Forty consecutive patients were retrospectively analyzed. Results Thirty-one patients (78%) were initially misdiagnosed with lumbar spinal stenosis or other diseases, mostly by orthopedic surgeons, even though most patients (85%) had specific symptoms or characteristic neuroimaging findings of spinal DAVFs: they often presented with spastic gait (thoracic myelopathy), progressive ascending numbness that begins in the distal lower extremities (epicous syndrome), and urinary tract symptoms (conus medullaris syndrome); initial lumbar MRI showed T2 signal change in the conus medullaris and vascular flow voids around the cord. The median time from onset to treatment was longer in patients with a misdiagnosis than in those with the correct diagnosis (11 vs 4 months). In all patients, the fistula was completely obliterated by the direct microsurgical procedure; however, patients with a misdiagnosis had developed additional disabilities by the time a correct diagnosis was made (Aminoff-Logue gait grade of 3.6 ± 1.4 vs 2.1 ± 1.5 p = 0.013), and achieved markedly smaller improvements after the treatment (Aminoff-Logue gait grade of 3.0 ± 1.6 vs 1.1 ± 1.5, p = 0.006) than those with the correct diagnosis of spinal DAVFs. Conclusions When common spinal stenosis fail to explain the symptoms such as thoracic myelopathy, epiconus syndrome, and conus medullaris syndrome, the possibility of spinal DAVFs should be considered. If lumbar MRI shows conus medullaris lesions, thoracic MRI should be performed to confirm the diagnosis.

Tethered cord syndrome (TCS) usually presents with low-lying conus medullaris and thickened filum terminale. Spinal cord anomalies usually accompany congenital malformations and variations of the vertebral column. Transitional vertebrae (TV) are common variant, especially in the lumbosacral region. Accurate definition of the spine level is essential for proper radiological diagnosis and treatment. In this study, congenital spinal cord and vertebral anomalies and the relation with TV groups and types were evaluated in TCS patients. The study was performed in 97 patients. Radiological imaging findings [computed tomography (CT), magnetic resonance imaging (MRI), and radiography] and medical records were evaluated. Spine bony malformation, spinal cord malformation, and spinal level of malformation were compared with TV and non-TV groups in TCS patients. In addition, TV groups and types were compared with each other for these anomalies. There was no statistically significant difference between TV and non-TV group in terms of the presence of vertebral bone and spinal cord anomalies. There were some significant differences in some of the spine bone and spinal cord anomalies among the groups and types of TV. Sixty-two point nine percent TCS patients had TV. Although these findings indicate that TV is common in patients with TCS, no significant difference is observed in most of the studied anomalies. However, there were some differences among the TV groups and TV types in relation to congenital malformations. It can be concluded that TV anomaly could be a distinct malformation apart from all the other anomalies that were studied. Transitional vertebrae may cause pain due to biomechanical changes in addition to progressive neurological symptoms which are usually seen with TCS.

Background Ventriculus terminalis is a cystic embryological remnant within the conus medullaris that normally regresses after birth. In rare cases, it may persist into adulthood and give rise to neurological symptoms, for which the optimal treatment remains uncertain. The aim of this study was to present our experience from a population-based cohort of patients with ventriculus terminalis and discuss our management strategy as compared to the existing literature. Methods A retrospective review was conducted of all adult (≥ 15 years) patients with ventriculus terminalis who were referred to the Karolinska University Hospital between 2010 and 2018. Results Fourteen patients were included. All patients were symptomatic at the time of referral, and the most common symptom was lower limb weakness (n = 9). Microsurgical cyst fenestration was offered to all patients and performed in thirteen. Postoperative imaging confirmed cyst size reduction in all surgically treated patients. No surgical complications were reported. Eleven of the surgically treated patients showed clinical improvement at long-term follow-up. One patient declined surgery, with progression of the cyst size and clinical deterioration observed at follow-up. Conclusions Surgery for ventriculus terminalis seems to be a safe and effective option for relief of symptoms. We propose that surgery should be offered to all patients with symptomatic ventriculus terminalis.

We evaluated the spinal cord injury range in patients with tethered cord syndrome (TCS) who had urinary incontinence.We included 30 subjects in the present study, 15 with tethered cord syndrome and urinary incontinence and 15 normal volunteers. All 30 subjects underwent magnetic resonance diffusion tensor imaging (DTI). Apparent diffusion coefficient (ADC) and fractional anisotropy (FA) were calculated from a region of interest). All the patients and volunteers were measured 4 segments above the conus medullaris.All the FA values and ADC values could be measured from the DTI scans in the normal volunteers and patients. The average ADC value was 1.244 ± 0.061 in the control group and 1.052 ± 0.045 in the TCS group. The difference was statistically significant (P0.05). The average FA value was 0.866 ± 0.030 in the control group and 1.079 ± 0.049 in the TCS group, with a statistically significant difference (P0.05). The differences in the ADC values in each segment were statistically significant in the 2 groups, although only the difference in the FA value of the fourth segment above the conus medullaris was statistically significant in the 2 groups.DTI can detect the spinal cord damage range in patients with TCS. In the patients with urinary incontinence, the spinal cord damage was widespread, and the most severe lesion was at the fourth segment above the conus medullaris. This might indicate that decompression of the spinal cord should at least include the fourth segment above the conus medullaris.

Study design Retrospective analysis. Setting China Rehabilitation Research Center, Beijing, China. Objective A retrospective study that documents the modalities and clarifies the heterogeneity among spinal cord injuries (SCIs) caused by trauma to the thoracolumbar vertebral junction. Methods X-ray and MRI imaging, neurological records, and the urodynamics results of 190 patients were reviewed and used to categorize different SCI modalities. First, injuries were divided into complete and incomplete injuries using the International Standard for Neurological Classification of Spinal Cord Injury. Next, the complete injuries were further grouped using the neurological level of injury and Long T2 signal from mid-sagittal MRI images, whereas the bulboconvernosus reflexes were also used as a reference to detect injury to the sacral cord. Results The SCI modalities were classified into five categories: pure complete epiconus lesion with caudal cord intact (G1), complete epiconus injury with conus medullaris (CM) totally involved in the lesion (G2), CM syndrome, cauda equine syndrome without sacral sparing (G3 and G4), and incomplete injury (G5). Conclusions The heterogeneity of SCIs at the thoracolumbar junction was documented, a criterion we propose to be of great significance when selecting patients for clinical trials. In particular, the G2 group, which comprises nearly one third of the patients with epiconus lesions, is sometimes mistaken as G1, an observation that has thus far received insufficient attention.

A high lumbar puncture (LP) at L2-L3 or above is often necessary to consider on technical grounds, but complications of conus medullaris (CM) damage during high LP are potentially concerning. We hypothesized that a high LP might be safer than previously thought by accounting for movements of the CM upon patient positional changes. We retrospectively reviewed standard normal supine lumbar spine magnetic resonance imaging of 58 patients and used electronic calipers on axial images at the T12-L1, L1-L2, and L2-L3 disc levels to measure the transverse diameter of the CM relative to the size of the dorsal thecal sac space (DTSS) through which a spinal needle could be inserted. On 142 axial images, the means for CM diameters were 8.2, 6.0, and 2.9 mm at the three levels, respectively. We then used known literature mean CM displacement values in the legs flexed and unflexed lateral decubitus position (LDP) to factor in CM shifts to the dependent side. We found that at all three levels, the likely positional shift of the CM would be too small and insufficient to displace the entire CM out of the DTSS. However, if needle placement could be confined to the midsagittal plane, an LP in the unflexed LDP would theoretically be entirely safe at both L1-L2 and L2-L3, and almost so at L2-L3 in the legs flexed LDP. Thus, high LPs at L1-L2 and L2-L3 are in theory likely safer than considered previously, more so in the legs unflexed than in the flexed LDP. Clin. Anat. 32:618-629, 2019. © 2019 Wiley Periodicals, Inc.

Approximately 25% of patients with anorectal malformation have tethered cord. The traditional way of determining conus medullaris level on magnetic resonance imaging (MRI) relies on counting vertebrae, which may be challenging due to vertebral numeric variation, segmentation anomalies, as well as transitional vertebral body anatomy. The purpose of this study was to utilize more reliable anatomic landmarks (foramen magnum, conus termination, and the upper limit of the iliac crest) to establish a consistent ratio that may differentiate patients with normal and low-lying conus.A single institution database search identified two groups of patients: 255 with normal and 85 with abnormal spinal MRI, who underwent tethered cord release. The conus medullaris ratio was calculated in both groups. The ratio was obtained by dividing the distance between the conus level and the iliac crest by the distance between the foramen magnum and the conus level (IRB # 16-2330).The mean ratio was significantly higher in the non-tethered group compared to the tethered patients (0.184 [sd 0.03] versus 0.118 [sd 0.09]; P.0001). The ratio proved to be a good discriminator between normal and abnormal patients, with area under the curve (AUC) equal to 0.749, meaning that at random, there is a 75% chance that the tethered cord patient will have a lower ratio than the non-tethered cord patient."The Conus Medullaris Ratio" is a good predictor of low-lying conus level on MRI and offers an easy alternative to counting vertebral body levels, particularly in patients with variant or abnormal vertebral body anatomy.II, Study of Diagnostic Test.

We present a case of a young African migrant from Guinea-Conakry presented to a French emergency department with burning pain in both feet for 2 days. The symptoms progressed to limb paraparesis with sphincter disorders. A magnetic resonance imaging (MRI) scan showed a hyperintense spinal cord lesion without contrast enhancement extending from the T6 vertebrae to the conus medullaris. Cerebrospinal fluid exam (CFE) showed an isolated hyperproteinorachia (0.61 g/l). Schistosomiasiss serology was positive and a rectal biopsy showed a schistosoma egg surrounded by an inflammatory reaction with granulomatosis. After steroid and antihelminthic therapy, accompanied by intensive physical therapy, the patient had an improved neurological neurological outcome.

Spinal epidermoid cysts are benign tumors. Syringomyelia secondary to intramedullary tumors are frequently observed. However, the association between syringomyelia and spinal intradural extramedullary epidermoid cyst in the conus medullaris region is extremely rare. We present the case of a 3-year-old male who was admitted with paraparesis and urinary retention. Magnetic resonance imaging (MRI) of the spine demonstrated intradural extramedullary lesion, compatible with epidermoid cyst, that at the conus medullaris level and a large syringomyelia extending from T4 to L1 vertebrae. Total microsurgical excision of the cyst was performed. No additional drainage was carried out for the syringomyelic cavity. Histopathological examination verified the diagnosis of the epidermoid cyst. Total excision of the cyst and disappearance of the syringomyelia were observed on MRI at 15 days postoperatively. We have clarified the etiology, clinical, histopathological and radiological features, differential diagnosis, and treatment modalities of spinal epidermoid cysts. In addition, we have discussed the possible mechanisms of syringomyelia formation in spinal intradural lesions.

Spondylocostal dysostosis is a very rare combination of complex vertebra and rib malformations, accompanied occasionally by other disorders. A 3-year-old girl presented kyphoscoliosis, foot deformities, gate disturbance, and urinary incontinence. The CT and MRI examination revealed kyphosis and scoliosis with a double curve, some absent, broadened, bifurcating and fused ribs, hemivertebrae, butterfly and cleft vertebrae in thoracic and lumbar region, sporadic cleft or absent vertebral arches or pedicles, and hypoplastic sacrum with a cleft of the S2 vertebra. Spina bifida occulta extended from T10 to T11, and from L3 to the end of the sacrum. Two hemicords, separated by a bony septum and surrounded by their own dural tubes (type I), were present from the level of T9 to the conus medullaris. Filum terminale was thick and duplicated. Syringomyelia was present in the thoracic cord from T5 to T8. Finally, a small meningocele was seen at the T10–T11 level, and a subcutaneous lipoma in the thoracolumbar region. To our knowledge, such a combination of vertebra, rib, and cord malformations, including the mentioned additional disorders, has never been reported.

Introduction Although spinal arteriovenous fistula (AVF) has been reported widely, AVF at the cauda equina is quite rare. We described a case of AVF at the cauda equina that was fed by the distal radicular artery (DRA). Case presentation A 50-year-old woman presented with sudden weakness of the lower extremities. Magnetic resonance imaging (MRI) revealed a lesion with a highly intense signal at the conus medullaris, which was surrounded by several low-intensity signals (flow voids). Digital subtraction angiography revealed AVF at the cauda equina and that it was fed by the DRA, which was directly fed by the L3 segmental artery. We performed surgical resection of the AVF while monitoring motor-evoked potentials. The patient's postoperative course was uneventful, and her neurological symptoms gradually resolved. MRI 2 years after surgery showed the disappearance of both intramedullary edema and the flow voids. Discussion For the AVF, located at the cauda equina and fed by the DRA in this case, surgical resection or endovascular embolization could have been selected. We performed open surgery to achieve complete obliteration of the AVF, which led to postoperative functional recovery without any adverse events. However, only a limited number of AVFs at the level of the cauda equina have been reported, and treatment standards have not been established. Further studies of AVFs at the cauda equina are necessary to clarify the epidemiological characteristics and clinical outcomes with an appropriate sample size.

Introduction Isolated complex I deficiency causes several clinical syndromes, including Leigh syndrome (LS), Leber hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Here we reported two new patients carrying the rare m.3890G>A/MT-ND1 (p.Arg195Gln) mitochondrial DNA (mtDNA) pathogenic variant, revisited another two previously reported cases, and reviewed the remaining published cases, to refine the clinical and neuroimaging features. We also quantitatively assessed the mtDNA heteroplasmy in all available tissues. Cases presentation The first patient was a 25-year-old male presenting with axonal polyneuropathy, optic atrophy consistent with LHON, gaze palsy and parkinsonism. MRI correlates included transient centromedullary T2 hyperintensity in the conus medullaris, transient signal intensity and increased lactate in the midbrain periaqueductal gray matter, and late atrophy of the optic nerves and chiasm, dorsal midbrain and conus medullaris. The second patient was a 65-year-old woman with a classical LHON phenotype and a normal MRI. Discussion Including the previously published cases, the clinical spectrum ranged from LHON to Leigh-like syndrome with peculiar CNS lesions and encephalopatic clinical symptoms. The most severe and complex cases were associated with very high heteroplasmy, or nearly homoplasmic m.3890G>A/MT-ND1 pathogenic variant in skeletal muscle, displaying neurological symptoms/signs consistent with Leigh-like lesions on brain MRI. Lower heteroplasmic mutational loads were instead associated with isolated LHON-like optic neuropathy of variable severity. Conclusion The m.3890G>A/MT-ND1 mtDNA pathogenic variant increasingly impairs complex I function dependent on heteroplasmic loads, leading to a spectrum of LHON and Leigh-like encephalopathy with distinguishing MRI features.

OBJECTIVE Occult spinal dysraphism (OSD) is a common pediatric neurosurgical diagnosis rife with controversy surrounding both the screening of asymptomatic infants and the threshold to offer a prophylactic detethering operation. The authors sought to clarify international practice patterns with a survey of pediatric neurosurgeons. METHODS A survey asked pediatric neurosurgeons whether they would perform imaging in patients with a variety of cutaneous stigmata associated with OSD and whether they would offer prophylactic detethering surgery for asymptomatic patients with a variety of imaging findings on the OSD spectrum. RESULTS Completed surveys were received from 141 pediatric neurosurgeons. Broad consensus was demonstrated on the need for obtaining images in sample patients with more severe stigmata ranging from large lipoma with a skin appendage to focal dysplastic skin in the lumbar midline. Ninety percent of respondents would perform MRI for these patients. In contrast, for patients with a low-sacral dimple, flat hemangioma, and symmetric (Y-shaped) splaying of the intergluteal cleft, opinion on the need for imaging varied considerably (between 57% and 89% recommended imaging). Respondents differed on the type of imaging that they would perform, with 31% to 38% recommending ultrasound screening. The responses reflected less consensus on when to offer surgery to patients with simple spinal tethering (low-lying conus medullaris and fatty filum terminale). Both a lower level of the conus and increased thickness of the filum terminale affected decision-making. CONCLUSIONS The results of this survey showed significant consensus on the recommendation for screening imaging in patients with more dramatic cutaneous stigmata, although these stigmata are the rarest. A significant variance in opinions was reflected in the recommendation for imaging of the most common cutaneous stigmata. Consensus was also lacking on which lesions deserve prophylactic detethering surgery. Significant equipoise exists for future study of screening imaging and of surgical decision-making in patients with asymptomatic OSD and associated cutaneous stigmata.

Summary We report a challenging autopsy case with an insidious clinical presentation with diffuse lepto- and pachymeningeal enhancement in a context of a complex clinical history. Clinical features, neuroradiological and anamnestic data were consistent with central nervous system (CNS) dissemination of a previously known lambda restricted multiple myeloma. Autoptic findings allowed to discard this hypothesis. Unexpectedly, CNS sampling revealed an atypical glial cell proliferation within the sacral meningeal layers. No primary intraparenchymal CNS glial lesion was found. Findings supported the final diagnosis of anaplastic astrocytoma IDH1-wild type of the medullary cone with diffuse leptomeningeal and cerebrospinal fluid (CSF) dissemination. This occurrence represents an extremely rare condition itself, further complicated by the clinical history of the patient that led to formulate the most probable diagnosis of localization of the primary known disease. This autopsy case underlines that patients previously diagnosed with a primary tumor are not only at risk of recurrences or progression of the original disease, but they must be always accurately checked for eventual onset of a second tumor, including rare conditions such as gliomatosis.

Objective: The objective of this study was to assess the position of the conus medullaris (CM) at the first trimester 3D ultrasound in a cohort of structurally normal fetuses. Methods: This was a multicenter prospective study involving a consecutive series of structurally normal fetuses between 11 and 13 weeks of gestation (CRL between 45 and 84 mm). All fetuses were submitted to 3D transvaginal ultrasound using a sagittal view of the spine as the starting plane of acquisition. At offline analysis, the position of the CM was evaluated by 2 independent operators with a quantitative and a qualitative method: (1) the distance between the most caudal part of the CM and the distal end of the coccyx (CMCd) was measured; (2) a line perpendicular to the fetal spine joining the tip of the CM to the anterior abdominal wall was traced to determine the level of this line in relation to the umbilical cord insertion (conus to abdomen line, CAL). Interobserver agreement for the CCMd was evaluated. Linear regression analysis was used to determine the association between the CMCd and CRL, and a normal range was computed based on the best-fit model. The absence of congenital anomalies was confirmed in all cases after birth. Results: In the study period between December 2019 and March 2020, 143 fetuses were recruited. In 130 fetuses (90.9%), the visualization of the CM was feasible. The mean value of the CMCd was 1.09 ± 0.16 cm. The 95% limits of agreement for the interobserver variability in measurement of the CMCd were 0.24 and 0.26 cm. The interobserver variability based on the intra-class correlation coefficient (ICC) for the CCMd was good (ICC = 0.81). We found a positive linear relationship between the CCMd and CRL. In all these fetuses, the CAL encountered the abdominal wall at or above the level of the cord insertion. Conclusion: In normal fetuses, the assessment of the CM position is feasible at the first trimester 3D ultrasound with a good interobserver agreement. The CM level was never found below the fetal umbilical cord insertion, while the CMCd was noted to increase according to the gestational age, confirming the “ascension” of the CM during fetal life.

Background The discovery of two immunoglobulin G (IgG) antibodies against aquaporin 4 (anti-AQP4) and myelin oligodendrocyte glycoprotein (anti-MOG) has led to the distinction of the disorders anti-AQP4 immunoglobulin G positive neuromyelitis spectrum disorder (AQP4-IgG+ NMOSD) and anti-MOG associated disorder (MOGAD). Different clinical and radiological features have been proposed to distinguish these two demyelinating CNS diseases. Methods This is a single-center retrospective review at the University of Florida (UF) including all patients with the diagnostic code ICD G36 (“other acute disseminated demyelination”) from October 2015 to January 2020 (n=141) and all charts included in the clinical NMOSD database of the UF Division of Neuroimmunology (n=36). A total of 151 cases were reviewed for presence of anti-MOG and anti-AQP4 antibodies and NMOSD diagnostic criteria. Differences in MOGAD and AQP4-IgG+ NMOSD were compared. Results Of the 151 reviewed patient charts, 11 were consistent with MOGAD and 43 with AQP4-IgG+ NMOSD. Patients with MOGAD were significantly younger at symptom onset compared to patients with AQP4-IgG+ NMOSD (14 [1-33] years vs. 37 [6-82] years; p=0.005). In comparison with AQP4-IgG+ NMOSD, optic neuritis in MOGAD was more frequently associated with bilateral optic nerve involvement: (6/11 [54.5%] vs. 6/43 [13.9%]; p=0.009) and fundoscopic presence of optic disc edema (5/11 [45.5%] vs. 3/43 [7%]; p=0.006). Perineuritis was a common radiological feature in MOGAD (present in 4 cases). In case of myelitis, there was more frequent involvement of the conus medullaris in MOGAD (4/11 [36.4%] vs. 2/43 [4.7%]; p=0.012). Symptomatic cerebral syndrome with supratentorial white matter lesions was seen in MOGAD patients with pediatric onset (pediatric onset: 4/6 [66.7%] vs. adult onset: 0/5 [0%]. In MOGAD, evidence for combined central and peripheral demyelination and increased intracranial pressure was present in one patient each. A preceding inciting event (illness/postpartum) was more frequently identifiable in MOGAD (4/11 [36.4%] vs. 4/43 [7%]; p=0.045). Disability as calculated on the Expanded Disability Status Scale was less severe in MOGAD compared to AQP-IgG+ NMOSD (most severe presentation: 5 [2-7] vs. 7 [1-10]; p=0.015; most recent assessment: 2 [0-5] vs. 5 [0-10]; p=0.045) and patients were more likely to respond to treatment of acute attacks with corticosteroids and/or plasmapheresis (Clinical Global Impression-Global Change scale: 1 [1-4] vs. 3 [1-6]; p=0.001). Interpretation The study confirms that simultaneous bilateral optic neuritis, presence of optic disc edema, transverse myelitis with conus involvement and a less severe disease course are distinctive features of MOGAD.

Surfer's myelopathy is non-traumatic spinal cord injury which develops in beginner surfers. The patient was a 17-year-old female who developed severe paraplegia with bilateral sensory dysfunction below the groin and bladder/rectal dysfunctions after her first surfing lesson. A spinal-cord MRI performed six hours after onset revealed an intramedullary hyperintensity area from T8 to the conus medullaris on the T2 weighted images. Expansion of this hyperintensity area was observed on Day 3 and showed a reduction on Day 8. After providing intravenous methylpredonisolone, intravenous glycerol and intravenous edaravone, motor function and bladder/rectal functions began to improve after approximately three weeks. In this study, the expansion of the lesion in the early stages of the disease course was observed by sequential spinal MRI. Furthermore, a time lag between improvement according to imaging and improvement in symptoms was also observed.

Patient: Male, 16-year-old Final Diagnosis: Hemorrhagic myxopapillary ependymoma • myxopapillary ependymoma Symptoms: Gait abnormality • pain in lumbar region Medication: — Clinical Procedure: Resection of intraspinal mass Specialty: Neurosurgery • Radiology Objective: Unusual clinical course Background: Spinal myxopapillary ependymoma (MPE) is a slow-growing tumor arising from ependymal cells of the central nervous system. MPE rarely presents with acute neurological compromise and most commonly occur in the filum terminale or conus medullaris region. To date, only a few cases have been reported of patients presenting acutely because of hemorrhagic MPE. Case Report: A 16-year-old boy without previous medical problems presented with a sudden onset of severe pain in the low back radiating to the thighs. He could not walk owing to the severity of the pain. Neurological examination revealed an unsteady gait, but the rest of the motor and sensory examination was normal. Lumbosacral spine magnetic resonance imaging revealed an intradural hemorrhagic mass extending from L5 to S2. The encapsulated hemorrhagic tumor was resected, and the pathology was consistent with MPE grade I. The patient made a significant recovery postoperatively. It is extremely rare for MPE to present with spontaneous hemorrhage in the lumbosacral region. Prompt diagnosis and management led to a favorable outcome. This case report is intended to highlight the atypical presentation and imaging features of hemorrhagic MPE. Conclusions: We described a rare case of MPE in the lumbosacral region of a patient who presented with acute neurological compromise and atypical imaging features.

INTRODUCTION: Epidural electrical stimulation of the conus medullaris has helped facilitate native motor recovery in individuals with complete cervicothoracic spinal cord injuries (SCI). A theorized mechanism of clinical improvement includes supporting central pattern generators intrinsic to the conus medullaris. Because spinal cord stimulators (SCS) are approved for the treatment of neuropathic pain, we were able to test this experimental therapy in a subject with complete L1 paraplegia and neuropathic genital pain due to a traumatic conus injury. CASE PRESENTATION: An otherwise healthy 48-year-old male with chronic complete L1 paraplegia with no zones of partial preservation (ZPP) and intractable neuropathic genital pain presented to our group seeking nonmedical pain relief and any possible help with functional restoration. After extensive evaluation, discussion, and consent, we proceeded with SCS implantation at the conus and an intensive outpatient physical therapy regimen consistent with the recent SCI rehabilitation literature. DISCUSSION: Intraoperatively, no electromyography (EMG) could be elicited with epidural conus stimulation. At 18 months after implantation, his motor ZPPs had advanced from L1 to L5 on the left and from L1 to L3 on the right. Qualitative increases in lower extremity resting state EMG amplitudes were noted, although there was no consistent evidence of voluntary EMG or rhythmic locomotive leg movements. Three validated functional and quality of life (QoL) surveys demonstrated substantial improvements. The modest motor response compared to the literature suggests likely critical differences in the anatomy of such a low injury. However, the change in ZPPs and QoL suggest potential for neuroplasticity even in this patient population.

Primary Hodgkin lymphoma of the central nervous system is an exceedingly rare condition with very few cases reported in the literature. Isolated intradural involvement of the spine is rarer still, with only two prior cases located in the extramedullary cervical and lumbosacral spine. We present a 48-year-old female who was presented with back pain, radiculopathy and a short history of sphincter disturbance and was subsequently found to have a lobulated homogenously enhancing exophytic lesion involving the conus medullaris and cauda equina on magnetic resonance imaging. Histopathological examination demonstrated the features of classic Hodgkin lymphoma. In this report, we present a case of primary intramedullary Hodgkin lymphoma involving the conus medullaris and cauda equina.

AIM To compare short-term outcomes between conus medullaris (conus) and cauda equina (cauda) selective dorsal rhizotomy (SDR) techniques in children with spastic cerebral palsy. METHOD This was a retrospective review of SDR at a single center from 2013 to 2017. Gait and functional outcome measures were assessed at no more than 18 months pre-SDR (baseline) and 8 to 36 months post-SDR (follow-up). Transient complications during inpatient stay were quantified. RESULTS In total, 21 and 59 children underwent conus and cauda SDR respectively. Ashworth Scale scores were nearly normalized at follow-up. Most physical examination and functional measures exhibited similar baseline to follow-up responses for both groups. From baseline to follow-up, sagittal plane knee kinematics for both groups significantly improved (p