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Key Clinical Message: Early detection of occult spinal dysraphism, such as diastematomyelia with tethered cord, is vital to prevent neurological damage. Though rarely diagnosed in the neonatal period, cutaneous stigmata can aid early identification. Utilizing neonatal ultrasound enables timely management and multidisciplinary intervention. [ABSTRACT FROM AUTHOR]

Objective: To compare cases of dysraphism with ventral tethering of cord with those with dorsal tethering and to find out any differences in the outcome of surgery in them. Methods: We collected the data of 188 consecutively operated tethered cord patients at our institute in the past 7 years and divided them into ventral tethering and dorsal tethering groups. Those that we felt had both dorsal and ventral tethering were excluded. Their preoperative clinical, radiological, and baseline neurophysiological parameters as well as postoperative clinical and radiological parameters were analyzed in a retrospective study. Results: Among the 188 tethered cord patients, 52 (28%) had ventral tethering and 136 (72%) had posterior tethering. Preoperative neurodeficit and cord signal changes as well as absent baseline MEP (of any one muscle) were significantly more associated with ventral tethered cord than the dorsal tethered cord. The neurological deterioration after surgery occurred significantly in the ventral tethered cord group than in the dorsal tethered cord group. Also, the postoperative MRI had more incomplete detethering cases in the ventral group than in the dorsal tethered cord group. Conclusion: Ventral tethered cord is more likely to present with preoperatively neurological deficits. It should be carefully identified in the preoperative MRI, so that the intraoperative difficulties in complete detethering and postoperative deterioration can be anticipated. [ABSTRACT FROM AUTHOR]

After myelomeningocele (MMC) repair, a secondary tethered spinal cord occurs in almost all patients. The tethered spinal cord may result in progressive neurological deterioration and walking disability. This retrospective cohort study aimed to highlight the walking recovery one year after tethered cord release and its relation to the preoperative conus level. We reviewed the medical records at our university hospital from January 2014 to December 2022. The patients who underwent spinal cord untethering following lumbosacral MMC repair were included. We assessed the walking recovery one year after cord release using the modified Benzel scale. Thirty-seven patients met our selection criteria. There were 19 girls (51.4%) and 18 boys (48.6%). Their mean age at presentation was 8.6 years. The preoperative conus vertebral levels ranged between L4 and S3. One year after spinal cord release, 37.8% of the patients regained their walking ability. All the patients whose preoperative conus level was at S2 or S3 regained their walking ability. In contrast, all the patients with preoperative conus levels at L4 or L5 didn't regain their ability to walk. One-third (33.3%) of patients whose conus was at the S1 level regained their walking ability one year after cord release. One year after tethered cord release, 37.8% of the patients regained their walking ability. We found that the walking recovery was statistically associated with the preoperative conus level. A multicenter prospective study is required to support the results of this study. [ABSTRACT FROM AUTHOR]

Spinal ultrasound (US) is an invaluable tool in screening the newborn for congenital spine abnormalities and characterizing them when present. If unrecognized, spinal anomalies can lead to devastating neurological consequences. Knowledge of spine US indications is essential to maximize its utility, and proper technique is critical in obtaining diagnostic images. Knowledge of normal anatomy, pathologic findings, and anatomic variants is paramount in interpretation of images. In this review, we discuss indications for screening US, imaging technique, and illustrate the normal anatomy on US, abnormal findings, and nonpathologic anatomic variants. • Sonographic spine imaging allows visualization of the neonatal spinal cord. • Knowledge of spine ultrasound indications is essential to maximize its utility. • Proper sonographic technique is critical in obtaining diagnostic images. • Early identification of congenital abnormalities can improve patient outcomes. [ABSTRACT FROM AUTHOR]

Key Clinical Message Early detection of occult spinal dysraphism, such as diastematomyelia with tethered cord, is vital to prevent neurological damage. Though rarely diagnosed in the neonatal period, cutaneous stigmata can aid early identification. Utilizing neonatal ultrasound enables timely management and multidisciplinary intervention.

Occult spinal dysraphisms (OSDs) are caused by various defects in the embryogenesis of the spinal cord and represent an obstacle to the ascent of the conus, which allows the conus to pass from the lower levels of the spinal canal to the final position between L1 and L2 during normal foetal life. When an OSD tethers the spinal cord at the lower levels, it can lead to neurological symptoms, better known as tethered cord syndrome. Surgical treatment of OSD is primarily aimed at untethering the spinal cord. In asymptomatic patients, this can protect against the long-term development of neurological deficits. In symptomatic patients, this can halt or limit the progression of existing symptoms. The aim of this study is to examine all paediatric and adult patients diagnosed with OSD and treated in the Department of Neurosurgery at the University Medical Centre Ljubljana during the 5-year period of 2016–2021. All patients diagnosed with OSD during this period were included in the study. Patient characteristics, treatment modalities and outcomes were studied with the aim of describing the differences between the paediatric and adult population and defining the rationality of treating these pathological conditions. We included in the study 52 patients with 64 occult dysraphic lesions. Adults (>18 years old) represented 15/52 (28.8%) of all patients, while 37/52 (71.8%) were children. The most common OSDs were conus lipomas, followed by dermal sinus tracts, filum terminale lipomas and split cord malformations. Surgical treatment was performed in 35/52 (67.3%) cases, while conservative management was chosen in 17/52 (32.6%) cases. The preoperative presence of symptoms was statistically higher in adults than in children (p = 0.0098). Surgery on complex spinal cord lipomas was statistically related to a higher rate of postoperative neurological complications (p = 0.0002). The treatment of OSD is complex and must be based on knowledge of the developmental anomalies of the spine and spinal cord. Successful surgical treatment relies on microsurgical techniques and the use of neuromonitoring. Successful treatment can prevent or limit the occurrence of neurological problems. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient. [ABSTRACT FROM AUTHOR]

The exoscope has emerged as an efficacious microscope in adult spinal neurosurgery providing improved operative field visibility and surgeon ergonomics. However, outcome data and feasibility are underrepresented in the pediatric literature. We present the largest case series aimed at assessing operative and clinical outcomes in pediatric patients undergoing various exoscope-assisted spinal surgeries. A retrospective review was conducted on all consecutive pediatric (age <18 years) spinal surgeries performed with the use of an exoscope by 3 senior surgeons at a single institution from 2020–2023. Demographics and clinical and operative outcomes were reviewed and analyzed. Ninety-six exoscope-assisted pediatric spine surgeries were performed on 89 unique patients, 41 (42.7%) of which were male. The mean age at surgery was 12 (±5.3) years. Spinal cord detethering (55.8%) was the most common procedure performed. The overall mean operative time for all procedures was 155 (±86) minutes, and the mean estimated blood loss was 18 (±41) mL. The mean length of stay was 5.4 (±6.5) days. There were 14 (14.6%) patients with complications in this cohort. At final follow-up, 64 (83.1%) of symptomatic patients reported neurologic symptom improvement. Using the exoscope in a variety of pediatric spinal surgeries resulted in an acceptable average operative time, estimated blood loss, length of stay, and rate of neurologic symptom improvement. The exoscope appears to be an efficacious option for pediatric neurosurgical spinal procedures. [ABSTRACT FROM AUTHOR]

Total/near-total resection (TR/NTR) of complex lumbosacral lipomas (CSL) is reported to be associated with better long-term functional outcomes and lower symptomatic re-tethering rates. We report our institutional experience for CSL resection in affected children. This is a single-institution, retrospective study. Inclusion criteria consist of patients with CSL with dorsal, transitional and chaotic lipomas based on Pang et al's classification. The study population is divided into 2 groups: asymptomatic patients with a normal preoperative workup referred to as 'prophylactic intent' and 'therapeutic intent' for those with pre-existing neuro-urological symptoms. Primary aims are to review factors that affect post-operative clean intermittent catheterization (CIC), functional outcomes based on Necker functional score (NFS), and re-tethering rates. 122 patients were included from 2000 to 2021. There were 32 dorsal lipomas (26.2 %), 74 transitional lipomas (60.7 %), and 16 chaotic lipomas (13.1 %). 82 % patients achieved TR/NTR. Favourable NFS at 1-year was 48.2 %. The re-tethering rate was 6.6 %. After multivariable analysis, post-operative CIC was associated with median age at surgery (p = 0.026), lipoma type (p = 0.029), conus height (p = 0.048) and prophylactic intent (p < 0.001). Next, extent of lipoma resection (p = 0.012) and the post-operative CSF leak (p = 0.004) were associated with re-tethering. Favourable NFS was associated with lipoma type (p = 0.047) and prophylactic intent surgery (p < 0.001). Our experience shows that TR/NTR for CSL is a feasible option to prevent functional deterioration and re-tethering. Efforts are needed to work on factors associated with post-operative CIC. • Complex lumbosacral spinal cord lipomas (CSL) are challenging conditions. • The role of radical resection of CSL in asymptomatic children remains uncertain. • There is a paucity of data on CSL management from our region of Southeast Asia. • Global collaborative research in CSL is strongly advocated. [ABSTRACT FROM AUTHOR]

Charcot arthropathy is a rare disease in clinic, which is easy to be misdiagnosed and delayed diagnosis. Imaging examination plays a key role in the diagnosis of Charcot arthropathy. It is important to improve the early diagnosis rate and strive for early treatment to improve the quality of life of these patients. Here we reported a rare case of charcot knee (CK) accompanied by tethered cord syndrome and lumbosacral fur sinus, who presented with joint destruction, joint deformity and multiple free bodies and received joint free bodies removal and joint replacement surgery with acceptable short and midterm follow-up results.

Purpose: Abnormalities in notochordal development can cause a range of developmental malformations, including the split notochord syndrome and split cord malformations. We describe two cases that appear related to unusual notochordal malformations, in a female and a male infant diagnosed in the early postnatal and prenatal periods, which were treated at our institution. These cases were unusual from prior cases given a shared constellation of an anterior cervicothoracic meningocele with a prominent "neural stalk," which coursed ventrally from the spinal cord into the thorax in proximity to a foregut duplication cyst. Methods: Two patients with this unusual spinal cord anomaly were assessed clinically, and with neuroimaging and genetics studies. Results: We describe common anatomical features (anterior neural stalk arising from the spinal cord, vertebral abnormality, enteric duplication cyst, and diaphragmatic hernia) that support a common etiopathogenesis and distinguish these cases. In both cases, we opted for conservative neurosurgical management in regards to the spinal cord anomaly. We proposed a preliminary theory of the embryogenesis that explains these findings related to a persistence of the ventral portion of the neurenteric canal. Conclusion: These cases may represent a form of spinal cord malformation due to a persistent neurenteric canal and affecting notochord development that has rarely been described. Over more than 1 year of follow-up while managed conservatively, there was no evidence of neurologic dysfunction, so far supporting a treatment strategy of observation. [ABSTRACT FROM AUTHOR]

Background: Little is known about the real-world status of neurosurgical treatment of myelomeningocele patients. Objective: To investigate the real-world status of neurosurgical treatment of myelomeningocele patients, medical claims data provided by the Japan Medical Data Center (JMDC) were analyzed. Methods: The health claims data of 556 patients with myelomeningoceles from January 2005 to March 2020 were examined. The number of neurosurgical procedures, including myelomeningocele repair, tethered cord release, cerebrospinal fluid (CSF) shunt, CSF drainage, and endoscopic third ventriculostomy (ETV), was determined. Results: A total of 313 neurosurgical procedures were performed for 135 patients in 74 institutions during the study period. The shunt survival rate was most affected by shunts that were revised when the patient was less than 1 year old, which had a significantly lower survival rate than all of the initial shunts performed when the patient was less than on1 year old; the 1-year shunt survival rate was 35 vs 64% (P = 0.0102). The survival rate was significantly lower in patients younger than 1 year who had CSF drainage before shunting compared to those younger than 1 year who did not have CSF drainage before shunting; the 1-year shunt survival rate was 27 vs 59% (P = 0.0196), and 81% of patients remained free of tethered cord release 10 years later. Conclusions: In this study, a revised shunt of less than 1 year of age and CSF drainage before shunting were the factors that lowered the shunt survival rate in the real world for CSF shunts for hydrocephalus associated with myelomeningocele. [ABSTRACT FROM AUTHOR]

Objective: To explore the clinical efficacy of enhanced recovery after surgery (ERAS) plus erector spinae plane block (ESPB) for post-untethering analgesia in children. Methods: The relevant clinical data were retrospectively reviewed for 79 children with tethered cord syndrome (TCS) from January 2020 to November 2022.A total of 40 cases were in conventional administration group from January 2020 to March 2021 and 39 cases in ERAS+ ESPB group from April 2021 to November 2022.Pain degrees, function outcomes and complication rates of two groups were compared within 3 days post operation. Results: Significant inter-group differences existed in pain scores at 24/48/72 h post-operation ( F=24.261, P<0.001).Pain scores of conventional and ERAS+ ESPB groups were statistically significant ( F=176.080, P<0.001).Interaction between time factor and group was statistically significant ( F=9.566, P<0.001).Further analysis of separate effects of postoperative analgesic management at different monitoring timepoints and groups revealed no statistically significant difference in pain scores between 24 h and 48 h post-operation in conventional group ( P=0.180) and pain scores declined significantly at 72 h versus 24/48 h post-operation ( P<0.001).Pain scores at Day 3 post-operation decreased obviously with the elapsing of time in ERAS+ ESPB group ( P<0.001).Pain scores were significantly lower in ERAS+ ESPB group than those in conventional group at 24/48/72 h post-operation ( P<0.001).Regarding postoperative function outcomes, length of hospital stay dropped in ERAS+ ESPB group compared with conventional group [(9.23±1.13) vs.(13.85±2.9) day, t=4.683, P=0.022], frequency of postoperative analgesic pump compression declined greatly in ERAS+ ESPB group versus conventional group[(5.67±1.94) vs.(9.18±2.65), t=3.818, P=0.031].Start time of postoperative functional exercise of lower extremity was significantly shorter in ERAS+ ESPB group than that in conventional group [(4.62±0.66) vs.(7.75±0.54) day, t=8.689, P=0.006].No inter-group difference existed in catheter removal time [(6.66±0.84) vs.(6.51±0.72) day, t=1.665, P=0.249].The incidence of postoperative complications was significantly lower in ERAS+ ESPB group than that in conventional group [ n=3(7.7%) vs. n=10(25%), χ 2=4.302, P=0.038]. Conclusions: Implementing ERAS plus ESPB can effectively control early postoperative pain, accelerate function recovery, reduce complications, shorten hospital stay and improve quality-of-life in TCS children. [ABSTRACT FROM AUTHOR]

Key Clinical Message Diastematomyelia, tethered cord, intradural extramedullary dermoid tumor and lipomyelomeningocele such disease entities themselves are rare in their own form and concurrent presentation of all those pathological states in a single individual can be considered one of the rarest forms of spinal dysraphism globally. Moreover for prompt management with optimal prognosis needs refined neurosurgical intervention guided by intraoperative neuromonitoring so as to bring about the best quality of life in the patient.

Dermal sinus tracts (DSTs) are congenital lesions that connect the cutaneous ectoderm with the underlying neuroectodermal tissues. They are typically midline, solitary lesions. Multiple, and atypically located DSTs have been only rarely described. We present two cases of multiple and laterally located DSTs. The first presented with bacterial meningitis and two tracts in the right buttock, one of which entered the spinal canal through the S3 neural foramen. The second child had three midline lumbar DSTs, one subcutaneous dermoid cyst and one intradural epidermoid cyst. Complete surgical excision was achieved in both cases with good late follow up. Multiple or atypically located DSTs appear to carry the same risks of infection as the more common, midline, single tracts. Complete surgical excision is recommended to avoid the risks of neurological deterioration, in particular due to infection. Incomplete disjunction is the proposed developmental anomaly for DSTs, however the location of the cases presented here requires an alternative explanation.

Children with an isolated fibrolipoma of filum terminale (IFFT) but otherwise normal spinal cord are often evaluated with video urodynamics (VUDS). VUDS interpretation is subjective and can be difficult in young children. These patients may undergo detethering surgery if there is concern for current or future symptomatic tethered cord. We hypothesized that VUDS in children with IFFT would have limited clinical utility regarding decision for or against detethering surgery and VUDS interpretation would have poor interrater reliability. Patients with IFFT who underwent VUDS for from 2009 to 2021 were retrospectively reviewed to evaluate clinical utility of VUDS. 6 pediatric urologists who were blinded to patient clinical characteristics reviewed the VUDS. Gwet's first order agreement coefficient (AC 1) with 95% CI was used to assess interrater reliability. 47 patients (24F:23M) were identified. Median age at initial evaluation was 2.8yrs (IQR:1.5–6.8). 24 (51%) patients underwent detethering surgery (Table). VUDS at initial evaluation were interpreted by treating urologist as normal in 4 (8%), reassuring for normal in 39 (81%), or concerning for abnormal in 4 (9%). Based on neurosurgery clinic and operative notes for the 47 patients, VUDS made no change in management in 37 patients (79%), prompted detethering in 3 (6%), was given as reason for observation in 7 (15%), and was normal or reassuring for normal but not documented as a reason for observation in 16 (34%) (Table). Interrater reliability for VUDS interpretation had fair agreement (AC 1 = 0.27) for overall categorization of VUDS and EMG interpretation (AC 1 = 0.34). Moderate agreement was seen for detrusor overactivity interpretation (AC 1 = 0.54) and bladder neck appearance (AC 1 = 0.46). In our cohort, 90% of patients had a normal or reassuring for normal interpretation of VUDS. VUDS interpretation affected clinical course in a minority of patients. There was fair interrater reliability for overall VUDS interpretation and therefore clinical course regarding detethering surgery could vary depending upon interpreting urologist. This fair interrater variability appeared to be related to variability in EMG, bladder neck appearance, and detrusor overactivity interpretation. VUDS affected clinical management in about 20% of our cohort and supported the choice for observation in around 50% of patients. This suggests VUDS does have clinical utility in pediatric patients with IFFT. The overall VUDS interpretation had fair interrater reliability. This suggest VUDS interpretation has limitations in determining normal versus abnormal bladder function in children with IFFT. Neurosurgeons and urologists should be aware of VUDS limitations in this patient population. [ABSTRACT FROM AUTHOR]

Background: Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel management in conjunction. Methods: To define existing approaches and propose state-of-the-art bowel management, a literature search was performed using Medline/PubMed, Google Scholar, Cochrane, and EMBASE databases and focusing on the manuscripts published July 2013 and July 2023. Results: Patients with spinal anomalies have impaired innervation of the rectum and anal canal, decreasing the success rate from laxatives and rectal enemas. Thus, transanal irrigations and antegrade flushes are widely utilized in this group of patients. Based on spinal MRI, the potential for bowel control in these children depends on age, type, and lesion level. On referral for bowel management, a contrast study is performed to assess colonic motility and evacuation of stool, followed by a series of abdominal X-rays to define colonic emptying and adjust the regimen. The options for management include laxatives, rectal enemas, transanal irrigations, antegrade flushes, and the creation of a stoma. Approximately 22–71% of patients achieve social continence dependent on the type and level of the lesion. Conclusion: Patients with spinal anomalies require a thorough assessment for continence potential and stool burden prior to initiation of bowel management. The optimal treatment option is defined according to the patient's age, anatomy, and mobility. The likelihood of independent bowel regimen administration should be discussed with the patients and their caregivers. [ABSTRACT FROM AUTHOR]

Thoracic lipomyelomeningocele is a rare type of congenital occult spinal dysraphism. It is characterized by lipomatous tissue connected to the dorsal spinal cord that protrudes through a spinal defect together with the meninges or spinal cord to form a posterior mass beneath the skin. Closed spinal dysraphism can present diagnostic challenges when resources are scarce and advanced imaging techniques like magnetic resonance imaging are not readily available. Here, we describe a case of thoracic lipomyelomeningocele, a type of closed spinal dysraphism in a young female presenting with gradually progressive weakness and tingling sensation in bilateral lower limbs over the last 6 months. On physical examination, she had a soft tissue swelling with dimpling over the dorsal spine and paraparesis. Magnetic resonance imaging of the spine revealed dorsal lipomyelomeningocele corresponding to D4-D7 vertebral levels with tethered spinal cord.

Occult spinal dysraphisms (OSDs) are caused by various defects in the embryogenesis of the spinal cord and represent an obstacle to the ascent of the conus, which allows the conus to pass from the lower levels of the spinal canal to the final position between L1 and L2 during normal foetal life. When an OSD tethers the spinal cord at the lower levels, it can lead to neurological symptoms, better known as tethered cord syndrome. Surgical treatment of OSD is primarily aimed at untethering the spinal cord. In asymptomatic patients, this can protect against the long-term development of neurological deficits. In symptomatic patients, this can halt or limit the progression of existing symptoms. The aim of this study is to examine all paediatric and adult patients diagnosed with OSD and treated in the Department of Neurosurgery at the University Medical Centre Ljubljana during the 5-year period of 2016–2021. All patients diagnosed with OSD during this period were included in the study. Patient characteristics, treatment modalities and outcomes were studied with the aim of describing the differences between the paediatric and adult population and defining the rationality of treating these pathological conditions. We included in the study 52 patients with 64 occult dysraphic lesions. Adults (>18 years old) represented 15/52 (28.8%) of all patients, while 37/52 (71.8%) were children. The most common OSDs were conus lipomas, followed by dermal sinus tracts, filum terminale lipomas and split cord malformations. Surgical treatment was performed in 35/52 (67.3%) cases, while conservative management was chosen in 17/52 (32.6%) cases. The preoperative presence of symptoms was statistically higher in adults than in children (p = 0.0098). Surgery on complex spinal cord lipomas was statistically related to a higher rate of postoperative neurological complications (p = 0.0002). The treatment of OSD is complex and must be based on knowledge of the developmental anomalies of the spine and spinal cord. Successful surgical treatment relies on microsurgical techniques and the use of neuromonitoring. Successful treatment can prevent or limit the occurrence of neurological problems.

Spinal segmental myoclonus is rhythmic or semirhythmic involuntary contractions of muscle groups supplied by one or several contiguous segments of the brainstem and/or spinal cord evident with surface electromyographic (EMG) discharges. The clinical spectrum of contactin‐associated protein‐2 (CASPR2) autoantibody‐associated disorders is more diverse and reports on unusual, sometimes isolated, and immunotherapy‐responsive movement disorders in CASPR2 autoantibody‐associated syndromes have been described. We describe a rare case of spinal segmental myoclonus associated with CASPR2 antibody. [ABSTRACT FROM AUTHOR]

IntroductionThe Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.MethodsWe explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.ResultsOur systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.ConclusionSpinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.

Abstract Background Filar cysts are frequently found on neonatal ultrasound and are physiologically involuting structures with natural resolution. Hence, there has been no previous histologic correlation. Ventriculus terminalis is a focal central canal dilation in the conus medullaris and usually not clinically significant. Extra-axial cyst at the conus–filum junction connected to ventriculus terminalis is extremely rare, especially when associated with tethered lipomatous filum terminale and with progressive cyst enlargement. Case presentation A Caucasian female neonate with abnormal gluteal cleft had ventriculus terminalis cyst with an extra-axial cyst at the conus–filar junction and taut lipomatous filum on ultrasound examination and magnetic resonance imaging. This persisted at 6-month follow up imaging. In light of the nonresolving extra-axial mass and thick taut lipomatous filum, the child underwent L1–L3 osteoplastic laminectomies. The extra-axial cyst expanded after bony decompression and furthermore on dural opening; visualized on ultrasound. It communicated with the central canal and was documented with intraoperative photomicrographs. It was excised and filum sectioned. Histological immunostaining of the cyst wall showed neuroglial and axonal elements. The child did well without deficits at 4-year follow up with normal urodynamics. Conclusion Progression dilation of ventriculus terminalis and extra-axial conofilar cyst with tethered lipomatous filum will likely progress to clinical significance and require surgical intervention. The embryologic basis for this pathology is discussed, with literature review.

Purpose: The purpose of the study was to better understand the clinical course and impact of tethered cord release surgery on patients who have previously undergone open spinal dysraphism closure in utero. Methods: This is a single-center retrospective observational study on patients undergoing tethered cord release after having previously had open fetal myelomeningocele (MMC) closure. All patients underwent tethered cord release surgery with a single neurosurgeon. A detailed analysis of the patients' preoperative presentation, intraoperative neuromonitoring (IONM) data, and postoperative course was performed. Results: From 2009 to 2021, 51 patients who had previously undergone fetal MMC closure had tethered cord release surgery performed. On both preoperative and postoperative manual motor testing, patients were found to have on average 2 levels better than would be expected from the determined anatomic level from fetal imaging. The electrophysiologic functional level was found on average to be 2.5 levels better than the anatomical fetal level. Postoperative motor levels when tested on average at 4 months were largely unchanged when compared to preoperative levels. Unlike the motor signals, 46 (90%) of patients had unreliable or undetectable lower extremity somatosensory evoked potentials (SSEPs) prior to the tethered cord release. Conclusion: Tethered cord surgery can be safely performed in patients after open fetal MMC closure without clinical decline in manual motor testing. Patients often have functional nerve roots below the anatomic level. Sensory function appears to be more severely affected in patients leading to a consistent motor-sensory imbalance. [ABSTRACT FROM AUTHOR]

Introduction: Intrauterine myelomeningocele repair (IUMR) and postnatal myelomeningocele repair (PNMR) differ in terms of both setting and surgical technique. A simplified technique in IUMR, in which a dural onlay is used followed by skin closure, has been adopted at our institution. The goal of this study was to compare the rates of clinical tethering in IUMR and PNMR patients, as well as to evaluate the appearance on MRI. Methods: We conducted a retrospective review of 36 patients with MMC repaired at our institution, with 2:1 PNMR to IUMR matching based on lesion level. A pediatric neuroradiologist blinded to the clinical details reviewed the patients' lumbar spine MRIs for the distance from neural tissue to skin and the presence or absence of a syrinx. An EMR review was then done to evaluate for detethering procedures and need for CSF diversion. Results: Mean age at MRI was 4.0 years and mean age at last follow-up was 6.1 years, with no significant difference between the PNMR and IUMR groups. There was no significant difference between groups in the distance from neural tissue to skin (PNMR 13.5 mm vs IUMR 17.6 mm; p = 0.5). There was no difference in need for detethering operations between groups (PNMR 12.5% vs IUMR 16.7%; RR 0.75; CI 0.1–5.1). Conclusions: There was no significant difference between postnatal- and intrauterine-repaired myelomeningocele on MRI or in need for detethering operations. These results imply that a more straightforward and time-efficient IUMR closure technique does not lead to an increased rate of tethering when compared to the multilayered PNMR. [ABSTRACT FROM AUTHOR]

ZC4H2 (MIM# 300897) is a nuclear factor involved in various cellular processes including proliferation and differentiation of neural stem cells, ventral spinal patterning and osteogenic and myogenic processes. Pathogenic variants in ZC4H2 have been associated with Wieacker‐Wolff syndrome (MIM# 314580), an X‐linked neurodevelopmental disorder characterized by arthrogryposis, development delay, hypotonia, feeding difficulties, poor growth, skeletal abnormalities, and dysmorphic features. Zebrafish zc4h2 null mutants recapitulated the human phenotype, showed complete loss of vsx2 expression in brain, and exhibited abnormal swimming and balance problems. Here we report 7 new patients (four males and three females) with ZC4H2‐related disorder from six unrelated families. Four of the 6 ZC4H2 variants are novel: three missense variants, designated as c.142T>A (p.Tyr48Asn), c.558G>A (p.Met186Ile) and c.602C>T (p.Pro201Leu), and a nonsense variant, c.618C>A (p.Cys206*). Two variants were previously reported : a nonsense variant c.199C>T (p.Arg67*) and a splice site variant (c.225+5G>A). Five patients were on the severe spectrum of clinical findings, two of whom had early death. The male patient harboring the p.Met186Ile variant and the female patient that carries the p.Pro201Leu variant have a relatively mild phenotype. Of note, 4/7 patients had a tethered cord that required a surgical repair. We also demonstrate and discuss previously under‐recognized phenotypic features including sleep apnea, arrhythmia, hypoglycemia, and unexpected early death. To study the effect of the missense variants, we performed microinjection of human ZC4H2 wild‐type or variant mRNAs into zc4h2 null mutant zebrafish embryos. The p.Met186Ile mRNA variant was able to partially rescue vsx2 expression while p.Tyr48Asn and p.Pro201Leu mRNA variants were not. However, swimming and balance problems could not be rescued by any of these variants. These results suggest that the p.Met186Ile is a hypomorphic allele. Our work expands the genotypes and phenotypes associated with ZC4H2‐related disorder and demonstrates that the zebrafish system is a reliable method to determine the pathogenicity of ZC4H2 variants. [ABSTRACT FROM AUTHOR]

Background: Filar cysts are frequently found on neonatal ultrasound and are physiologically involuting structures with natural resolution. Hence, there has been no previous histologic correlation. Ventriculus terminalis is a focal central canal dilation in the conus medullaris and usually not clinically significant. Extra-axial cyst at the conus–filum junction connected to ventriculus terminalis is extremely rare, especially when associated with tethered lipomatous filum terminale and with progressive cyst enlargement. Case presentation: A Caucasian female neonate with abnormal gluteal cleft had ventriculus terminalis cyst with an extra-axial cyst at the conus–filar junction and taut lipomatous filum on ultrasound examination and magnetic resonance imaging. This persisted at 6-month follow up imaging. In light of the nonresolving extra-axial mass and thick taut lipomatous filum, the child underwent L1–L3 osteoplastic laminectomies. The extra-axial cyst expanded after bony decompression and furthermore on dural opening; visualized on ultrasound. It communicated with the central canal and was documented with intraoperative photomicrographs. It was excised and filum sectioned. Histological immunostaining of the cyst wall showed neuroglial and axonal elements. The child did well without deficits at 4-year follow up with normal urodynamics. Conclusion: Progression dilation of ventriculus terminalis and extra-axial conofilar cyst with tethered lipomatous filum will likely progress to clinical significance and require surgical intervention. The embryologic basis for this pathology is discussed, with literature review. [ABSTRACT FROM AUTHOR]

Abstract Background Objective Methods Results Conclusions Anterior sacral meningocele (ASM) is an uncommon variant of spinal dysraphism. Surgical correction for this condition is challenging and optimal corrective approaches are uncertain.To share our experience of managing this rare condition using the posterior trans-sacral approach and provide a contemporary review of the literature.Retrospective review of case notes, operative records, and imaging of eligible patients treated via the posterior trans-sacral approach between 2006 and 2020 at our regional neurosciences centre.Three patients, two females and one male with a mean age of 30 years (range 16–38), were treated. Presenting symptoms included lower abdominal pain and recurrent miscarriages. Patients underwent corrective surgery using the posterior approach involving a sacral laminectomy, durotomy and closure of the communicating fistula. A single patient required reoperation due to early recurrence. Another patient proved challenging because of a very large sacral fistula and required two procedures due to the development of high-pressure headaches secondary to a recurrence. All patients improved symptomatically postoperatively and remained symptom free at the last clinic follow-up and have been discharged. Following review of the literature, only two other non-syndromic cases have been described.ASM is an uncommon congenital abnormality, typically presenting with mass effect symptoms secondary to a presacral cystic mass. Surgical management using a posterior approach to close the meningeal sac is feasible and less invasive than an anterior approach. Long term clinical outcomes in our series were satisfactory. [ABSTRACT FROM AUTHOR]

Abstract Purpose Materials and methods Results Conclusions Tethered cord due to focal nondisjunction of primary neuralisation (FNPN) is a rare form of spinal dysraphism. We present our institutional experience in managing children diagnosed with FNPN.This is a single institution, retrospective study approved by the hospital ethics board. Patients below 18 years of age diagnosed with CDS, LDM or their mixed lesions, and subsequently underwent intervention by the Neurosurgical Service, KK Women’s and Children’s Hospital, are included.From 2001 to 2021, 16 FNPN patients (50% males) were recruited. Eight of them had CDS (50.0%), seven had LDM (43.8%), and one patient had a mixed CDS and LDM lesion (6.2%). The average duration of follow up was 5.7 years and the mean age of surgery was 6 months old. Thirteen patients underwent prophylactic intent surgery (81.2%) and three had therapeutic intent surgery (18.8%). All patients did not have new neurological deficit or required repeat surgery for cord retethering. We observed that detethering surgery performed at or less than three months old was associated with having a wound infection (p = .022).Our study reports that early recognition and timely intervention are mainstays of management for FNPN. We advocate a multi-disciplinary approach for good outcomes. [ABSTRACT FROM AUTHOR]

Background: Two techniques for selective dorsal rhizotomy (SDR) involve stimulating and sectioning nerve rootlets either below the conus medullaris or above the entrances to their respective dural root sleeves. In general, both techniques lead to sustained improvements in lower extremity spasticity with low complication rates. To our knowledge, spinal cord tethering has not been previously reported as a complication of SDR using either technique. Methods: We review the presentation, treatment, and outcome of two patients who developed symptomatic spinal cord tethering after SDR below the conus. Results: A 4-year-old male and a 6-year-old female each with a history of spastic diparetic cerebral palsy underwent L1–L2 osteoplastic laminectomy and SDR below the conus. Both surgeries went well with no known complications. Both patients initially did well, with marked improvement in their tone and gait. There were no significant immediate postoperative bowel or bladder problems. The male patient presented 10 months after surgery with new-onset urinary incontinence. A urological evaluation was performed but no imaging was performed. He re-presented 8 months later with worsened urinary incontinence, new fecal incontinence, and worsened gait. An MRI showed signs of tethering, including a holocord syrinx. He underwent two untethering surgeries as well syrinx fenestration, and although his gait improved, it remained worse than it had been several months after surgery. The incontinence did not improve. The second patient also developed urinary incontinence a year after SDR. Due to our experience with the first patient, we obtained an MRI immediately and found evidence of tethering. She underwent untethering and her incontinence improved. Conclusion: We report two cases of spinal cord tethering after SDR below the conus, a previously unreported complication. It is important to realize that this complication can occur after SDR. [ABSTRACT FROM AUTHOR]

Infants with esophageal atresia and/or tracheoesophageal fistula (EA/TEF) undergo screening for tethered cord syndrome (TCS) via ultrasound and magnetic resonance imaging. Existing literature lacks data to guide optimal timing of screening and magnetic resonance imaging (MRI) is often delayed until 3-6 mo of age, when it is frequently forgotten. Detethering surgery has a high rate of success in patients with TCS and is often performed prophylactically due to potential irreversible deficits. This study aims to improve screening procedure for infants with EA/TEF. A retrospective chart review was done of all EA/TEF patients treated over 6 y (n = 79). The study examined how often each imaging modality was performed and identified a TCS lesion, as well as age of screening/surgical intervention. Screening for TCS was done with MRI 58% of the time and US 15% of the time. However, 38% of patients did not undergo any screening. Out of the patients with TCS on MRI (n = 19, 41.3%), 73.7% had neurosurgery. Of patients who underwent ultrasound (US) (n = 12), nine patients also had MRI later: two reported TCS lesions and subsequently had neurosurgery. Surgical infection rates and complications were 0/14. MRI demonstrated a higher rate of detecting TCS lesions than US, and patients with TCS frequently had detethering. Patients with ≥3 VACTERL or vertebral anomalies had a higher incidence of TCS on MRI. Patients with vertebral anomalies reported false negative ultrasounds in two cases, suggesting the potential superiority of MRI screening in this subgroup. A third of children did not undergo any imaging and this will require a process improvement. [ABSTRACT FROM AUTHOR]

Introduction: The reported prevalence of tethered spinal cord in patients with anorectal malformations (ARMs) ranges from 9% to 64%. Practice patterns surrounding the diagnosis and management of tethered cord (TC) are suspected to vary, with consideration to the type of spine imaging, adjunct imaging modalities, what patients are offered surgical intervention, and how patients are followed after detethering. We sought to determine what consensus, if any, exists among pediatric neurosurgeons in the USA in terms of diagnosis and management of TC and, specifically, patients with TC and ARM. Methods: A survey was sent to members of the American Society of Pediatric Neurosurgeons (ASPN). Members of the ASPN received an email with a link to an anonymous REDCap survey that asked about their experience with detethering procedures, indications for surgery, diagnostic tools used, and follow-up protocols. Results: The survey was completed by 93 of the 192 ASPN members (48%). When respondents were asked about the total number of all simple filum detetherings they performed annually, 61% (N = 57) indicated they perform less than 10 for all TC patients. Ninety-three percent (N = 87) of neurosurgeons performed these procedures in patients with simple filum TC and ARM patients (TC + ARM) specifically. When asked about prophylactic detethering in those with a confirmed diagnosis of low-lying conus and with a filum fatty terminale, 59.1% (N = 55) indicated they would offer this to TC + ARM patients regardless of their age. Regarding preoperative workup for simple filum detethering, all respondents indicated they would order an MRI in both TC and TC + ARM patients, with a minority also requiring additional testing such as urodynamics, neurodevelopmental assessments, and anorectal manometry for both groups. When following patients postoperatively, almost all respondents indicated they would require clinical neurosurgical follow-up with a clinic visit (100% in all simple filum TC patients, 98.9% in fatty filum/low-lying conus TC + ARM patients), but there was wide variation in the use of other tools such as urological testing, neurodevelopmental assessment, and anorectal manometry. Discussion/Conclusions: A wide variety of diagnostic criteria and indication for procedural intervention exists for management of TC patients with and without ARM. Further studies are needed to determine outcomes. Prospective protocols need to be developed and evaluated to standardize care for this patient population and determine best practices. [ABSTRACT FROM AUTHOR]

Background: Patients with spinal abnormalities often struggle with fecal and/or urinary incontinence (up to 87 and 92%, respectively) and require a collaborative approach to bowel management in conjunction. Methods: To define existing approaches and propose state-of-the-art bowel management, a literature search was performed using Medline/PubMed, Google Scholar, Cochrane, and EMBASE databases and focusing on the manuscripts published July 2013 and July 2023. Results: Patients with spinal anomalies have impaired innervation of the rectum and anal canal, decreasing the success rate from laxatives and rectal enemas. Thus, transanal irrigations and antegrade flushes are widely utilized in this group of patients. Based on spinal MRI, the potential for bowel control in these children depends on age, type, and lesion level. On referral for bowel management, a contrast study is performed to assess colonic motility and evacuation of stool, followed by a series of abdominal X-rays to define colonic emptying and adjust the regimen. The options for management include laxatives, rectal enemas, transanal irrigations, antegrade flushes, and the creation of a stoma. Approximately 22–71% of patients achieve social continence dependent on the type and level of the lesion. Conclusion: Patients with spinal anomalies require a thorough assessment for continence potential and stool burden prior to initiation of bowel management. The optimal treatment option is defined according to the patient’s age, anatomy, and mobility. The likelihood of independent bowel regimen administration should be discussed with the patients and their caregivers.

Diastematomyelia is a rare congenital anomaly in which the spinal cord splits into 2 lateral halves. Spinal dermoid cysts are uncommon lesions. Hereby authors present a case of type 2 diastematomyelia in a 5-year-old male patient with concurrent distal cord intramedullary dermoid cyst, diagnosed by MRI and treated surgically., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Purpose: The purpose of this study was to evaluate outcome following surgical transection of filum terminale (FT) in symptomatic and asymptomatic pediatric patients with radiological findings consistent with tethered cord syndrome (TCS). Methods: Patients < 17 years who underwent untethering surgery between 2007 and 2018 were screened for eligibility. Those who had undergone primary transection of the FT, and had preoperative radiological findings of fatty filum, thickened FT, or low-lying conus, below the pedicles of L2, were included. The cohort was divided into symptomatic and asymptomatic depending on clinical presentation. Surgical complications and functional outcome was recorded. Results: In total, 95 patients were included, of whom 62 were symptomatic. In symptomatic patients, the main indications for radiological evaluation were scoliosis (29%) and motor symptoms (19%). In asymptomatic patients, skin stigmata (76%) were the most common finding. Fatty or thick FT was the most common radiographic finding, seen in 61% of symptomatic and 79% of asymptomatic cases. All patients underwent transection of the FT and were followed for a median of 1.8 years. A postoperative complication occurred in 12%, all Ibanez type Ib and managed without invasive treatment. For the symptomatic cohort, significant improvement was seen for both urodynamic assessment (48% improved, p = 0.002) and sensorimotor function (42% improved, p < 0.001). Conclusions: Neurological improvement or halted deterioration was seen in the majority of symptomatic cases. Asymptomatic patients did not experience any severe complications. Filum transection should be offered to symptomatic and asymptomatic patients upon diagnosis of fatty filum, thickened FT, or low-lying conus. [ABSTRACT FROM AUTHOR]

Background: Fatty filum terminale is a form of spinal dysraphism and a third of all patients develop symptoms such as sensory, motor, and urinary impairment. Early surgery at 6 months has the advantage that the bone density is still soft, and the patients are not ambulatory yet, promoting faster healing. Method: We present our minimal invasive surgical technique for FFT untethering. Conclusion: Due to the low complication rate and the potentially high benefit of surgery, prophylactic untethering is recommended. [ABSTRACT FROM AUTHOR]

Introduction: The retained medullary cord (RMC) is a newly defined entity of closed spinal dysraphism that is thought to originate from regression failure of the medullary cord during the last phase of secondary neurulation. The terminal myelocystocele (TMC) is an unusual type of closed spinal dysraphism, characterized by localized cystic dilatation of the terminal part of the central canal that then herniates through a posterior spinal bifida. The co-occurrence of RMC and TMC is extremely rare. Case Presentation: We treated a baby girl with a huge sacrococcygeal meningocele-like sac with two components. Untethering surgery and repair surgery for the sac revealed that RMC, associated with intramedullary arachnoid cyst (IMAC), was terminated at the bottom of the rostral cyst, forming the septum of the two cystic components, and the caudal cyst was TMC derived from the central canal-like ependymal lining lumen (CC-LELL) of the RMC at the septum. IMAC within the RMC communicated with TMC, and both contained xanthochromic fluid with the same properties. Conclusion: We speculated that the mass effect of the coexistent IMAC impeded the flow of cerebrospinal fluid in the CC-LELL within the RMC and eventually formed a huge TMC. In surgical strategies for such complex pathologies, it is important to identify the electrophysiological border between the functional cord and nonfunctional RMC and the severe RMC to untether the cord, as with a typical or simple RMC. [ABSTRACT FROM AUTHOR]

Patients presenting with pain in lower back and paresthesia in lower limbs may have tethered cord causing the symptomology. Tethered cord may be associated with intradural tumors causing symptoms due to progressive increase in size. Association of tethered cord with single intradural tumor is a common occurrence but, to date, only one case has been reported of tethered cord associated with intradural lipoma and epidermoid cyst. The authors would like to present a similar case in a middle-aged patient.