Convolutional neural network-based magnetic resonance image differentiation of filum terminale ependymomas from schwannomas.

PURPOSE: Preoperative diagnosis of filum terminale ependymomas (FTEs) versus schwannomas is difficult but essential for surgical planning and prognostic assessment. With the advancement of deep-learning approaches based on convolutional neural networks (CNNs), the aim of this study was to determine whether CNN-based interpretation of magnetic resonance (MR) images of these two tumours could be achieved. METHODS: Contrast-enhanced MRI data from 50 patients with primary FTE and 50 schwannomas in the lumbosacral spinal canal were retrospectively collected and used as training and internal validation datasets. The diagnostic accuracy of MRI was determined by consistency with postoperative histopathological examination. T1-weighted (T1-WI), T2-weighted (T2-WI) and contrast-enhanced T1-weighted (CE-T1) MR images of the sagittal plane containing the tumour mass were selected for analysis. For each sequence, patient MRI data were randomly allocated to 5 groups that further underwent fivefold cross-validation to evaluate the diagnostic efficacy of the CNN models. An additional 34 pairs of cases were used as an external test dataset to validate the CNN classifiers. RESULTS: After comparing multiple backbone CNN models, we developed a diagnostic system using Inception-v3. In the external test dataset, the per-examination combined sensitivities were 0.78 (0.71-0.84, 95% CI) based on T1-weighted images, 0.79 (0.72-0.84, 95% CI) for T2-weighted images, 0.88 (0.83-0.92, 95% CI) for CE-T1 images, and 0.88 (0.83-0.92, 95% CI) for all weighted images. The combined specificities were 0.72 based on T1-WI (0.66-0.78, 95% CI), 0.84 (0.78-0.89, 95% CI) based on T2-WI, 0.74 (0.67-0.80, 95% CI) for CE-T1, and 0.81 (0.76-0.86, 95% CI) for all weighted images. After all three MRI modalities were merged, the receiver operating characteristic (ROC) curve was calculated, and the area under the curve (AUC) was 0.93, with an accuracy of 0.87. CONCLUSIONS: CNN based MRI analysis has the potential to accurately differentiate ependymomas from schwannomas in the lumbar segment.

Diagnosis and Management of Tethered Cord Syndrome.

Tethered cord syndrome is a condition in which the spinal cord is tethered by pathological structures such as a tight filum terminale, intradural lipomas with or without a connecting extradural component, intradural fibrous adhesions, diastematomyelia, and neural placode adhesions following closure of a myelomeningocele.It usually occurs in childhood and adolescence as the spine grows in length, but it can also develop in adulthood. Symptoms of tethered cord syndrome are slowly progressive and varied. Incorrect diagnosis and inappropriate treatment may be provided if the physician lacks knowledge and understanding of this disease.This chapter aims to describe the pathophysiology, syndromes, diagnostic imaging, surgical treatment, and prognosis of tethered cord syndrome to enhance the understanding of this condition.

Comparison of the inter-laminar approach and laminotomy open approach for filum terminale lipoma: A retrospective analysis.

PURPOSE: Filum terminale lipoma (FTL) causes spinal-cord tethering and is associated with tethered-cord syndrome, which is treated by dissection of the entrapment. The conventional treatment for FTL involves dissection of the spinal cord through a laminotomy open approach (LOA). However, in recent years, the interlaminar approach (ILA) has gained popularity as a minimally invasive surgery. This study compares the effectiveness of the minimally invasive ILA with the conventional LOA in treating FTL. METHODS: We retrospectively evaluated data on the ILA and LOA for FTL at our center. In total, 103 participants were enrolled, including 55 in the ILA group and 48 in the LOA group. RESULTS: The ILA required significantly less surgical time and resulted in less blood loss. The improvement rate of symptoms in symptomatic patients was 84%, and for urinary symptoms and abnormal urodynamic study findings, it was 77%. The postoperative maintenance rate for asymptomatic patients was 100%. Postoperative complications of ILA included delayed wound healing in two patients (3.6%). CONCLUSION: Compared with LOA, ILA offers advantages in terms of shorter operative time and less blood loss, with no significant difference in long-term symptom-improvement rates between the groups.

The discrepancy in triggered electromyography responses between fatty filum and normal filum terminale.

BACKGROUND: Functional role of filum terminale (FT) was not well studied though it contains structure basis for nerve impulse conduction. We aimed to explore the possible functions of the FT from the perspective of triggered electromyography (EMG) during surgery. METHODS: We retrospectively reviewed intraoperative neurophysiological monitoring data from pediatric patients who underwent intradural surgeries at the lumbar level in Shanghai Children's. Hospital from January 2018 to March 2023. Altogether 168 cases with complete intraoperative neurophysiological recordings of the FT were selected for further analysis. Triggered EMG recordings of the filum originated from two main types of surgeries: selective dorsal rhizotomy (SDR) and fatty filum transection. RESULTS: 96 cases underwent SDR and 72 cases underwent fatty filum transection. Electrical stimulation of the FT with fatty infiltration did not elicit electromyographic activity in the monitored muscles with the maximum stimulus intensity of 4.0 mA, while the average threshold for FT with normal appearance was 0.68 mA, and 89 out of 91 FT could elicit electromyographic responses in monitored channels. The threshold ratio of filum to motor nerve roots at the same surgical segment was significantly higher in patients with fatty filum, and a cut-off point of 21.03 yielded an area under curve of 0.943, with 100% sensitivity and 85.71% specificity. CONCLUSION: Filum with normal appearance can elicit electromyographic activity in the lower limbs/anal sphincter similar to the performance of the cauda equina nerve roots. The threshold of fatty filum is different from that of normal appearing FT. Triggered EMG plays an important role in untethering surgeries.

Use of ultrasound to estimate the prevalence of occult spinal dysraphism in children undergoing urogenital and anorectal surgeries: A cross-sectional study.

Background and Aim: The use of ultrasound has immensely increased the safety toward regional blocks and central venous access and has been considered as the standard of care for securing central access. The aim of this study is to estimate the prevalence of occult spinal dysraphism using ultrasound in children less than 2 years of age undergoing elective urogenital or anorectal surgery. Material and Methods: The lumbosacral region of 159 American Society of Anesthesiologists (ASA) category I/II patients, posted for elective urogenital and anorectal surgery was scanned with ultrasound, prior to giving caudal block. Results: The prevalence of occult spina bifida was 3% in our study. There was no statistically significant association of cutaneous marker with abnormal scan. Conclusion: Prevalence of occult spina bifida was ten-times higher in our study than in the general population. Perioperative ultrasound screening of the lower spinal anatomy by anesthesiologist done prior to performing neuraxial block is worthwhile in ruling out occult spinal anomalies in high-risk children of occult spinal dysraphism.

Endoscopic spinal cord untethering using a 1 cm skin incision technique in pediatrics: a technical case report.

BACKGROUND: Spinal cord untethering by sectioning the filum terminale is commonly performed in tethered cord syndrome patients with minor abnormalities such as filar lipoma, thickened filum terminale, and low conus medullaris. Our endoscopic surgical technique, using the interlaminar approach, allows for sectioning the filum terminale through a very small skin incision. To our knowledge, this procedure has not been previously reported. This is the first case report involving a 1 cm skin incision. CASE PRESENTATION: A 9-month-old male patient was referred to our neurosurgical department due to a coccygeal dimple. MRI revealed a thickened fatty filum. After considering the treatment options for this patient, the parents agreed to spinal cord untethering. A midline 1 cm skin incision was made at the L4/5 vertebral level. Untethering by sectioning the filum terminale was performed by full endoscopic surgery using the interlaminar approach. The procedure was uneventful and there were no postoperative complications. CONCLUSIONS: In terms of visibility and minimizing invasiveness, our surgical technique of using the interlaminar approach with endoscopy allows for untethering by sectioning the filum terminale through a very small skin incision.

Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature.

BACKGROUND/IMPORTANCE: Gollop-Wolfgang complex is a rare skeletal dysplasia with only 200 cases reported in the literature. This disorder is usually associated with several extraosseous anomalies. This report describes the first case of a fatty filum terminale and a low-lying conus medullaris in a patient with this complex. A review of the current literature of the Gollop-Wolfgang complex accompanies this case, highlighting the documented extraosseous anomalies seen in this complex. CLINICAL PRESENTATION: We report a case of an 18-month-old patient with Gollop-Wolfgang complex who underwent cord untethering with release of the filum terminale after extensive workup showed the presence of a dyssynergic bladder and radiological evaluation revealed a fatty filum terminale and low-lying conus medullaris. CONCLUSION: Gollop-Wolfgang complex is a skeletal dysplasia usually associated with several extra skeletal anomalies. Our report describes the first case of a fatty filum terminale and low-lying conus medullaris in this complex, as well as provides an overview of the documented anomalies seen in this disorder. A multidisciplinary approach is recommended when treating these infants in order to ensure that occult manifestations of the complex are not missed.

Microsurgical approach for resection of the filum terminale internum in tethered cord syndrome-a case demonstration of technical nuances and vignettes.

BACKGROUND: In tethered cord syndrome due to filum terminale pathology, the surgical approach to achieve detethering of the spinal cord may vary. Traditionally, sectioning the filum through a laminectomy at the lumbosacral level is performed. METHOD: A microsurgical technique at a higher level to approach the filum below the conus tip is performed. This allows for removal of the entire distal portion of the filum through a limited interlaminar approach and dural opening. CONCLUSION: We propose a technique to transect the filum terminale below the conus tip and extract the distal filum by releasing it from its intradural attachments to minimize any remnants of the filum terminale.

Filum terminale arteriovenous shunt with nidus structure: a report of rare condition and treatment consideration.

BACKGROUND:  In the literature, filum terminale arteriovenous shunts (FTAVSs) always feature a single shunt point. Nidus-type FTAVSs have rarely been reported, and the best treatment strategy is unclear. This is a report of one exceptional case of a nidus-type FTAVS and surgical treatment of the lesion. CASE DESCRIPTION: The patient suffered from cauda equina syndrome for 9 months. Magnetic resonance imaging and spinal angiography revealed a nidus-type FTAVF at the L2 level. Surgical resection was performed in the hybrid operating room, and the nidus was completely resected with the assistance of intraoperative methylene blue angiography and neurophysiological monitoring. The postoperative neurological function was stable. CONCLUSIONS: A nidus-type arteriovenous shunt could originate from the FT, and in such cases, complete surgical resection with intraoperative neurophysiological monitoring in a hybrid operating room should be suggested.

[Classification and microsurgical treatment of primary tethered cord syndrome in adults].

OBJECTIVE: To summarize the clinical manifestation, classification, and experience of surgical treatment of primary tethered cord syndrome (TCS) in adults. METHODS: The authors retrospectively analyzed a series of 171 adult patients with primary TCS who were surgically treated under microscope from March 2007 to October 2019. There were 61 males and 110 females whose ages were 18-65 years, with an average age of (39.02±11.81) years. Clinically, the patients presented with various neurological symptoms and signs including lower back and legs pain, reflex changes, sensory disturbances, muscle weakness, and sphincter problems. They were divided into 5 types by clinical manifestations and neuro-imaging features: (1) filum terminale traction in 69 cases, (2) split cord malformation in 21 cases, (3) myelomeningocele in 20 cases, (4) lipomyelomeningocele in 36 cases, and (5) dermal sinus traction in 25 cases. All the patients underwent microsurgery to untether the spinal cord. The patients kept prone position 7 days postoperatively. The Kirollos grading was used to evaluate the outcome of intraoperative untethering. The visual analogue scale (VAS) was used to evaluate the pain, the score of critical muscle strength was used to evaluate the lower extremity motor function, and the Japanese Orthopaedic Association (JOA) sphincter function score was used to evaluate the bladder function. RESULTS: All of the 171 patients were treated with microsurgery to release the adhesion and cut off the filum terminalis. 61 cases of them received resection of the lesions according to the etiology. All the tethered spinal cord reached Kirollos grade Ⅰ untethering and the dural sac was reconstructed. Other than 5 patients had cerebrospinal fluid leakage and incision laceration and underwent re-suture, there was no surgical complication. The local pain was relieved, the lower limbs weakness or bowel and bladder dysfunction gradually recovered postoperatively. The period of follow-up ranged from 6 months to 12.5 years with an average of (5.62±2.31) years. The neurological function was improved in 153 cases and stable in 18 cases. There was no recurrence of tethered cord be found during the follow-up period. CONCLUSION: The primary TCS in adulthood could be classified into 5 types by clinical manifestations and neuro-imaging features and surgical treatment should be undertaken in regard to the classifications including dissection and resection of the lesion detethering the spinal cord and reconstruction of the dura sac under microscope. The outcome of surgical treatment is satisfactory.

Occult tethered cord syndrome: a rare, treatable condition.

PURPOSE: Occult tethered cord syndrome (OTCS) is an entity that shows tethered cord syndrome (TCS) with normal spinal MRI findings. The definition and treatment of OTCS have been controversial since first proposal. The purpose of this study was to evaluate the existence, prevalence, histological characteristics, and surgical outcomes of OTCS. METHODS: We retrospectively analyzed patients who underwent untethering surgery for OTCS from January 2010 to December 2019. Inclusion criteria were (1) clinical manifestation of TCS; (2) supported by urodynamic study (UDS) or electromyography/nerve conduction study; (3) no structural lesions in the urological tract or spinal cord, and no developmental delay; and (4) postoperative follow-up for > 6 months. Sectioned fila from OTCS patients were histologically compared with those from cases of thickened filum or low-lying conus. RESULTS: Five (four female, one male) of 439 patients (1.1%) who underwent untethering surgeries for occult spinal dysraphism corresponded to OTCS. Mean age at the time of surgery was 16 years (7-22 years). Mean postoperative follow-up duration was 45 months (15-114 months). The main symptom was urinary dysfunction in four patients and leg pain in one. All patients had detrusor-sphincter dyssynergia. Fila from OTCS patients revealed increased fibrous tissue as in TCS patients. Four patients showed postoperative improvement and one with preoperative static course had no improvement. CONCLUSIONS: This study suggests that OTCS is a definitely existing entity although rare. OTCS is curable when timely treatment is given. Sudden onset with rapid progression of symptom seems the best indication for surgery.

Arteriovenous malformations of the filum terminale: clinical characteristics, angioarchitecture, and management of a rare spinal vascular pathology.

OBJECTIVE: The goal of this study was to describe clinical and neuroradiological features of arteriovenous malformations of the filum terminale (FT AVMs) and to present the authors' diagnostic and therapeutic management in this rare disease. METHODS: The presented cases were retrieved from a retrospectively collected database of all spinal vascular malformations treated between June 1992 and December 2021 at the Rheinisch-Westfälische Technische Hochschule (RWTH) University Hospital Aachen. Pretreatment and follow-up clinical and neuroradiological data were analyzed for this study. RESULTS: Data in 15 patients with FT AVM with a mean age of 60 years were included, with an overall incidence of FT AVM of 19% among all spinal AVMs in our cohort. Twelve of 15 (80%) patients were men. Nonspecific but typical clinical and MR findings of thoracolumbar congestive myelopathy were found in all patients. Spinal MR angiography, performed in 10 patients, identified in all cases the arterialized FT vein as well as a lumbar/lumbosacral location of an AV shunt. Digital subtraction angiography (DSA) showed an arterial supply solely via the FT artery in 12/15 (80%) patients and via an additional feeder from the lumbosacral region in the other 3/15 (20%) patients. All patients were treated surgically. During 1-year follow-up, 2 patients presented with recurrent FT AVM due to further arterial supply from the lumbosacral region, and were treated surgically. Neurological status was improved in all patients within the 1-year follow-up, with marginal further changes during long-term follow-up. CONCLUSIONS: Congestive myelopathy is the major pathological mechanism of symptoms in these patients, with no evidence for intradural bleeding. Missing the presence of possible multiple arterial supply of FT AVM during DSA may result in misdiagnosis and/or insufficient treatment. Due to the frequently prolonged course of FT artery, resection of the FT AVM may be a favorable treatment modality in comparison with endovascular treatment. Follow-up examinations are obligatory within the first 3 years after treatment, and further MR angiography and DSA examinations are indicated if congestive myelopathy persists.

Minimal invasive interlaminar approach for untethering of fatty filum terminale in pediatric patients - how I do it.

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.

Filum terminale transection in pediatric tethered cord syndrome: a single center, population-based, cohort study of 95 cases.

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.

Comparison of the electrophysiological characteristics of tight filum terminale and tethered cord syndrome.

PURPOSE: This study aims to characterize tight filum terminale (TFT) in motor evoked potential (MEP) testing by comparing TFT patients with both tethered cord syndrome (TCS) patients and healthy subjects. METHODS: Fifty TFT patients, 18 TCS patients, and 35 healthy volunteers participated in this study. We recorded MEPs following transcranial magnetic stimulation from the bilateral abductor hallucis muscles as well as compound muscle action potentials and F-waves evoked by electrical stimulation of the tibial nerve from the bilateral abductor pollicis brevis muscles. The peripheral conduction time (PCT) was calculated from the latency of the compound action potential and F-wave. Furthermore, the central motor conduction time (CMCT) was calculated by subtracting PCT from MEP latency. RESULTS: TFT and TCS patients had a significantly longer MEP latency than healthy subjects. PCT in TFT patients was significantly longer than those in TCS patients or healthy subjects. Using the cutoff values for PCT, we were able to diagnose patients with TFT patients with a sensitivity of 72.0% and a specificity of 91.4%. CONCLUSION: Prolonged PCT in the MEP test may be a useful indicator for TFT and suggests that MEP may be used as an adjunct diagnostic tool for TFT.

Paraganglioma of the cauda equina: A clinicopathologic study of 12 cases with demonstration of cytokeratin positivity.

Paragangliomas are rare neuroendocrine tumors originating from neural crest-derived paraganglion cells. Primary cauda equina paraganglioma (CEP) pose both diagnostic and surgical challenges. We report 12 cases of CEP to characterize the diagnostic and operative approach to these rare tumors. 12 cases with primary CEP were studied; 5 patients were male (41.7%) and 7 were female (56.3%). The median age was 44 years (range: 15-64 years). The most common symptom was lower back pain of variable duration. Radiologically, the lesions were intradural and extramedullary with well-defined margins, and ranged from 1 to 4.5 cm. in diameter (mean: 1.65 cm). 9 tumors were composed of sheets and nests of cells with a neuroendocrine pattern and intense vascularity and displayed a characteristic Zellballen pattern. Interestingly, CAM 5.2 was diffusely or focally positive with a dot-like or membrane pattern in 8/11 cases (72.7%). Similarly, CK was diffusely or focally positive with membrane and cytoplasmic staining or with a dot-like pattern in 7/11 (63.6%) and 2/11 cases (18.2%). None of the cases showed deletion of SDHB nor expression of GATA3. CEP can display aberrant keratin positivity, and this should be considered in the differential diagnosis of these lesions. This finding also raises the possibility that CEP may be an entirely different entity than non-spinal paragangliomas.

[Diagnosis and surgical treatment of tethered cord syndrome accompanied by congenital dermal sinus tract in adults].

OBJECTIVE: To summarize the clinical manifestations, imaging characteristics and experience of surgical treatment of tethered cord syndrome (TCS) accompanied by dermal sinus tract (DST) in adulthoods. METHODS: The authors retrospectively analyzed a series of 25 adult patients with TCS due to DST that were surgically treated under microscope from September 2010 to October 2019. There were 10 males and 15 females with an average age of 29.7 years (rang, 18-48 years). Characterized cutaneous malformation and dermal sinus were found in the lumbosacral region in all the 25 patients. Clinically, all the patients presented with chronic back and lower-extremity pain, numbness and weakness of lower limbs, and bowel and bladder dysfunction. Two cases were admitted to the emergency room with acute infectious cerebral spinal fluid (CSF) leakage complicated with meningitis. According to magnetic resonance imaging (MRI) images, the subdural course of DST whose traction of the spinal cord, the location of the conus medullaris, the presence of subdural lesions, and the diameter of the internal filum terminale were evaluated. The surgical procedure included separating and excising of the DST, section of the internal filum terminale, detethering of the TCS, and reconstruction of the dural sac under microscopy. The patients remained in prone position in 7 days postoperation. RESULTS: MRI showed that the position of the conus medullaris was lower than the level of lumbar 2 vertebrae, and the distal part of the DST entered the subdural stretched part of the spinal cord, to constitute one of the factors of TCS in all the 25 patients. Twenty patients had fatty infiltration of internal filum terminale and another patient had thickened (approximately 5 mm in diameter) internal filum terminale resulting in tightening the conus medullaris. A total of 25 operations were performed including completely dissection and resection of the DST through the skin down to the subdural space, section of the internal filum terminale, detethering of the TCS, and the subdural dermoid cysts were removed in two patients. There were no postoperative complications. The postoperative pathology was consistent with the structure of the DST and internal filum terminale. The local pain was relieved, and the lower-extremity weakness and bowel and bladder dysfunction were gradually relieved postoperatively. The period of follow-up ranged from 3 months to 9 years (mean, 3.9 years). The neurological function of all the patients was intact, and MRI showed that the physiological curvature of the thoracolumbar spine remained normal. There was no recurrence of TCS observed during the follow-up. CONCLUSION: The adult TCS accompanied with DST is characterized by typical cutaneous malformation in the lumbosacral region and tethering of the spinal cord. The patients are usually combined with internal filum terminale enlargement tightening of conus medullaris as well. The surgical treatment including totally resection of the DST and section of the internal filum terminale to detethering the TCS at the same time under microscopy. The outcome of surgical treatment is satisfactory.

Association of Kabuki syndrome and tethered cord syndrome: a report of three cases and literature review.

Kabuki syndrome (KS) is a congenital disorder characterized by distinctive facial features, skeletal and dermatoglyphic abnormalities, mild-to-moderate intellectual disability, and postnatal growth deficiency. Recently, mutations in the KMT2D and KDM6A genes have been identified as the causative factors in most KS cases. In this study, we present three cases of KS associated with tethered cord syndrome. All cases had a sacral dimple, which is a skin stigmata, and radiological abnormalities, including fatty or thickened filum terminale. Untethering surgery was performed and clinical improvement was achieved. Although in the association between KS and closed neural tube defect (NTD) has rarely been discussed, we emphasize that sacral dimples in KS and tethered cord syndrome are not uncommon. The KS patients with sacral dimple must be carefully investigated by radiological examination and urological study if there is abnormality. Further understanding of the genetic mechanism underlying KS might provide a novel insight on the correlation between the genetics and development of closed NTDs.

Familial tendency in patients with lipoma of the filum terminale.

PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

A critical analysis of surgery for occult tethered cord syndrome.

INTRODUCTION: Tethered cord syndrome (TCS) is an amalgamation of neurological, urological, orthopedic, and dermatologic signs and symptoms with radiographic evidence of a thickened filum and low-lying conus. Surgical sectioning of the filum and disconnection of any tethering entities such as dermal sinus tracts or lipomas has been shown to improve outcomes. The manifestation of TCS symptoms in the absence of a low-lying conus has been referred to as occult tethered cord syndrome (OTCS) and is much less well reviewed in the literature. To date, there has only been one randomized controlled trial examining the effect of intervention in OTCS; therefore, contemporary data is often elicited from limited cohorts. OBJECTIVE: To perform a comprehensive literature review of management in OTCS and evaluate treatment response rates to sectioning of the filum terminale. RESULTS: Seventeen papers met inclusion criteria for our review. Sample sizes ranged from 8 to 60 children, and results were mixed, often dependent on study design, definition of typical OTCS symptoms, and follow-up intervals. Symptomatic improvement was observed in > 50% of patients for all but one study; however, the recurrence rates were highly variable. CONCLUSION: The data regarding the efficacy of surgical treatment in OTCS is mixed and merits more rigorous scientific examination with strict and clear parameters regarding symptomatic operationalization and follow-up time points to monitor for TCS recurrence.