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ObjectiveTo identify factors associated with sexual interest and activity among adults with spina bifida and to describe the sexual profile of those who were sexually active. Sexual health of adults with spina bifida is often neglected and current knowledge on the topic is limited.MethodsAn anonymous web-based survey was advertised and administered between March 2018 and September 2018 and participants 16 years and older with spina bifida were included in this study. Respondents were asked about sexual interest, activity, and function using the validated Patient-Reported Outcomes Measurement Information System Sexual Function Profile. Bivariate and multivariable models with ordinal logistic regression were fitted to evaluate predictors of sexual interest and sexual function.ResultsOf the 261 respondents with a self-reported diagnosis of spina bifida (mean age of 38.5 years), 73.2% noted at least a little bit of interest in sexual activity. In multivariate analysis, women were less likely to report higher sexual interest than men (odds ratio (OR) = 0.53, 95% CI 0.31-0.92, P = .03) whereas those with higher physical functioning were more likely to have higher sexual interest (OR = 1.04, confidence interval (CI) 1.01-1.07, P = .03). Just less than half of respondents (46.4%) were sexually active in the past 30 days, and those with a ventriculoperitoneal shunt were less likely to engage in sexual activity compared to those without (OR = 0.36, 95% CI 0.19-0.68; P

Purpose: Spontaneous regression of Chiari malformation type 2 (CM2) is observed rarely, as CM2 is associated with meningomyelocele (MMC) that is surgically repaired either pre- or early postnatally. While the radiological regression of CM2 occurs frequently following prenatal repair of MMC, it has been reported in only a few studies after postnatal repair. Methods: From the consecutive series of children with postnatally repaired MMC, we reviewed the clinical and radiological data regarding CM2, particularly its regression either spontaneously or following CSF diversion. Results: Eighteen children underwent postnatal repair of MMC between February 2011 and April 2023. CM2 was present in 16 (89%), and hydrocephalus in 15 children (83%), requiring shunting in 14 of them. During the mean clinical observation time (from birth to April 2023) of 59 ± 51 months, three children with CM2 (19%) underwent 1–2 foramen magnum decompressions (FMD), five children (28%) 1–4 surgical untethering procedures and 13 children with shunted hydrocephalus (93%) 1–5 shunt revisions. Out of sixteen children with CM2, we observed regression of CM2 on MRI in only one case (6%) during the mean radiological follow-up (from birth to the last MRI taken) of 49 ± 51 months. Conclusion: In our experience, spontaneous regression of CM2 in children with postnatally repaired MMC occurs quite rarely. Pathophysiological mechanisms behind the development of CM2 in children with MMC remain unclear, but our observation supports the hypothesis of an association between the downward displacement of the hindbrain and the low intraspinal pressure secondary to CSF leakage in children born with MMC. [ABSTRACT FROM AUTHOR]

Background: Spinal arteriovenous shunts and spinal dysraphism both have a different underlying cause, disease spectrum and developmental process; hence, these entities rarely coexist in a patient. Here, we reported four cases of coexistence of adult-onset spinal arteriovenous shunt and spinal dysraphism in the same patient along with their therapeutic embolisation. Additionally, we conducted an extensive literature review to explore the potential theories and explanations for this coexistence. Methods: We retrospectively searched our imaging database from January 2015 to December 2023 to identify instances of spinal arteriovenous shunts occurring in patients with spinal dysraphism or neural tube defect disorders. MRI and angiographic imaging, clinical presentation, treatment and follow-up were analysed. Results: Four patients with arteriovenous fistula/shunt and spinal dysraphism were included in the study. The mean age of presentation was 35.5 years. The most common symptoms were sensory disturbance and motor weakness. Arteriovenous fistula or shunt was located at the lumber region in one patient and at the sacral region in three cases. Two patients have a prior history of surgery in first decade. Two patients were treated with glue embolisation. The internal iliac artery was a common feeder in all cases. Conclusions: The rare coexistence of neural tube defects with spinal vascular abnormalities should be considered when assessing a middle-aged patient with neural tube defect and myelopathy. Correct diagnosis can help in treatment planning and thereby improve prognosis. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the predictive accuracy of the Pittsburgh Impairment Testing Tool. It was hypothesized that the Pittsburgh Impairment Testing Tool would have a good overall accuracy (≥80%) for predicting both ambulation and transfer ability and that overall accuracy of the Pittsburgh Impairment Testing Tool would be higher than that of other scales. Design: A retrospective chart review was used to classify 409 adults with spina bifida according to seven neurological scales. A Naïve Bayes classifier was used to obtain accuracy estimates for predicting both ambulation and transfer ability as a function of each scale. Results: The Pittsburgh Impairment Testing Tool was the only scale demonstrating >80% overall accuracy for predicting both ambulation and transfer ability. While several scales demonstrated ≥80% overall accuracy in predicting transfer ability, none were useful in predicting inability to transfer. Inability to transfer was difficult for all tools to predict. Conclusions: The Pittsburgh Impairment Testing Tool demonstrated good overall accuracy for predicting both ambulation and transfer ability. Sensory and anatomic levels were less useful than motor level in predicting functional ability. [ABSTRACT FROM AUTHOR]

ABSTRACT Closed spinal dysraphism (CSD) is a congenital condition caused by a failure in secondary neurulation during embryogenesis. CSD is associated with characteristic cutaneous stigmata often identified clinically. Rarely, such stigmata have been reported to occur with complex congenital intraspinal lipomas containing Pacinian corpuscle hyperplasia. Herein, we present our case of an asymptomatic 8‐month‐old female who presented with a midline lumbosacral acrochordon‐like lesion. MRI revealed a midline lipomatous lesion at S2–S3 with a fibrovascular stalk likely continuous with the acrochordon. Given the absence of neurological symptoms concerning tethered cord syndrome (TCS), only the skin lesion was removed for cosmesis. Subsequent histopathological examination revealed numerous Pacinian corpuscles in a background of dermal collagen and subcutaneous adipose tissue. No features suggested a co‐existent peripheral nerve sheath lesion (such as a neurofibroma). Given the spinal cord abnormalities, and the histologic features of a pure proliferation of Pacinian corpuscles, a diagnosis of the so‐called “Pacinioma” was made. To the best of our knowledge, only four other cases of complex intraspinal lipomatous lesions containing Pacinioma in the setting of CSD with a tethered cord have been previously reported. This case highlights the complexity of the cutaneous stigmata of CSD. [ABSTRACT FROM AUTHOR]

Patients with spina bifida (SB), or spinal dysraphism, have several brain anomalies that influence daily life functioning. In this article we will explain how these can be investigated and what the relevance is for the care for (young) adults with SB. Predictors for problems with performance are: the level of the lesion, having hydrocephalus, having ventriculo-peritoneal draindysfunction, having seizures, and social economic status. In the daily practice you could notice that patients with SB are verbally strong, but still can get into trouble due to a lack of executive functions. Planning, handling appointments, compliance to medical advice and medication, etcetera, are more difficult for these patients. This worsens as the patient ages. It helps to offer information in a dosed manner. Use of short sentences and repetition are important. The rehabilitation team can also help, e.g. by testing neuropsychological functions and/or learning compensatory strategies. [ABSTRACT FROM AUTHOR]

Diastematomyelia is a rare congenital deformity, more common in females usually associated with cutaneous manifestation of spinal dysraphism with congenital scoliosis. We report a female patient 26 years old with scoliosis in the dorsolumbar spine with dorsolumbar focal diastematomyelia type-2 with intradural extramedullary epidermoid which is a rare entity.

OBJECTIVE: To contextualize the challenges that persons with congenital genitourinary conditions (CGC) may encounter in adulthood, we examined health care access, readiness for self-management, and health care utilization of adults with spina bifida (SB). METHODS: Through surveys distributed via social media, persons with SB were asked about access and barriers to care, readiness for self-management, and health care utilization (ie, medical visits, missed visits, emergency room [ER] visits, hospital admissions) within the past year. Multivariable models were fitted to examine determinants of utilization. RESULTS: Of the 270 eligible respondents (mean age 39), 24.5% had not received care from a urologist in the past year. The odds of missing any medical visits were increased among those with more prior urologic surgeries (odds ratio (OR) 1.35, 95%confidence interval (CI) 1.05-1.78) and those with ER visits for urologic condition within the past year (OR 2.65, 95%CI 1.22-6.01). Those with private insurance had lower odds of having ER visits for urologic condition (OR 0.46, 95%CI 0.22-0.84). The odds of hospital admission related to urologic condition were increased among female (OR 2.35, 95%CI 1.01-6.64), those with more prior urologic surgeries (OR 1.18, 95%CI 1.09-1.51), and those with a urologist (OR 2.98, 95%CI 1.15-14.47). CONCLUSION: A substantial proportion of adults with CGC lack routine urologic care. Considering the significant barriers to care and lapses in care, efforts to improve access and optimize health care services utilization for this population with high medical complexity are warranted.

Abstract Background Wilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case’s uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population. Case presentation A 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component. Conclusion This report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.

This review highlights the need for therapeutic guidelines for syringomyelia associated with tethered cord syndrome (TCS) caused by spinal dysraphism (SD). A comprehensive literature review was conducted, selecting twelve articles to analyze common therapeutic strategies. Surgical cord untethering alone has recently become a preferred treatment, with 45 ± 21.1% of patients experiencing remission or improvement, 47 ± 20.4% unchanged and asymptomatic, and 4 ± 8% worsened. Untethering with direct surgical drainage for the syrinx had better outcomes than untethering alone (78% vs. 45%, p = 0.05). Terminal syringostomy was beneficial for syrinxes extending to the filum terminale but not for asymptomatic small syrinxes with a syrinx index < 0.4. Syrinx shunting was recommended for symptomatic large syrinxes (>2 cm in length and syrinx index > 0.5). Various shunt procedures for syrinxes are still advocated, mainly for refractory syringomyelia in Chiari malformation, posttraumatic cases, SD, or other causes. Personalized surgical methods that address the root cause of syringomyelia, particularly those improving cerebrospinal fluid flow, offer promising results with minimized complications. Ongoing studies are required to enhance management strategies for syringomyelia associated with TCS, optimize patient outcomes, and reduce the risk of recurrent symptoms. [ABSTRACT FROM AUTHOR]

Mirror movements, characterized by involuntary symmetrical movements in contralateral body parts during intentional movements, have been associated with various neurological conditions. Limited dorsal myeloschisis (LDM), a rare form of spinal dysraphism, is defined by a focal closed midline defect and a fibro-neural stalk connecting the skin lesion to the underlying cord. We present a unique case of a 4-year-old girl with cervical LDM exhibiting mirror movements. The patient underwent surgical exploration, skin tag excision, fibrous tract removal, and cervical spinal cord detethering. Post-operatively, there was a partial improvement in mirror movements and a complete resolution of hand grip weakness. [ABSTRACT FROM AUTHOR]

The Quality of Life Assessment in Spina bifida for Teenagers (QUALAS-T) is a tool used to evaluate health-related quality of life (HRQOL) in adolescents with spina bifida (SB). The purpose of this study was to translate the QUALAS-T into Korean and validate its Korean version (QUALAS-T-K). Translation and validation processes were carried out in accordance with a specified protocol, including forward and back translation, a content validity study, and a main study. The tool's reliability was evaluated based on its internal consistency and stability. Factor analysis was conducted, and convergent validity was confirmed using the KIDSCREEN-27. Of the 59 participants, 35 had lipomyelomeningoceles. Confirmatory factor analysis confirmed that QUALAS-T-K had the same structure as QUALAS-T. The QUALAS-T-K showed excellent internal consistency (α: 0.872–0.893, ω: 0.875–0.885), test–retest reliability (ICC:0.84–0.92), and weak to strong correlations with the KIDSCREEN-27. The QUALAS-T-K, developed by reflecting on the characteristics of SB and considering the applicability of Korean cultural characteristics and clinical practice, is a convenient and reliable tool with excellent internal consistency and stability. This could be a useful tool in clinical and research settings for HRQOL evaluation of adolescents with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of individuals with spina bifida (SB), and HRQOL measures that reflect the condition specificity of SB should be performed. The QUAlity of Life Assessment in Spina bifida for Teenagers (QUALAS-T), developed in the USA, is a self-reported HRQOL questionnaire used in research and clinical practice for adolescents with SB. This study revealed that the QUALAS-T, translated into Korean, is a valid, convenient, and reliable tool. The Korean version of the QUALAS-T is a useful tool that can be used in clinical and research settings to optimize HRQOL in adolescents with SB. [ABSTRACT FROM AUTHOR]

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We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum. [ABSTRACT FROM AUTHOR]

Background: Myelocele is a rare form of open spina bifida. Surgical repair is recommended prenatally or in the first 48 h. In some cases, the repair may be delayed, and specific surgical factors need to be considered. Method: We give a brief overview of the surgical anatomy, followed by a description of the surgical repair of a thoracolumbar Myelocele in an 11-month-old child. Conclusion: Surgical repair of the Myelocele stabilizes the neurological status, prevents local and central nervous system infections. The understanding of Myelocele anatomy enables its removal while preserving as much healthy tissue as possible and restoring normal anatomy. Key points: 1. In the absence of life-threatening condition, any spinal dysraphism repair should be undertaken as soon as possible, ideally within the first 48 hours of life. However, circumstances may lead to a delayed repair, as in our case. 2. Each child should undergo a preoperative MRI of the spinal cord and imaging of the brain to look for signs of hydrocephalus (present in approximately 90% of cases). 3. A good anatomical understanding is fundamental. 4. The aim of the surgery is to restore the normal anatomical pattern, stabilize the neurological and clinical status of the child and prevent complications such as local infection or meningitis. 5. Microscopic magnification is crucial for identification of structures such as the opening of the normal dura into the skin, fusion of the spinal cord into the placode and the emergence of roots in epidural space. 6. Removal of the epithelium covering the placode is mandatory to prevent the formation of inclusion dermoid cysts. 7. Watertight closure of the dura mater is imperative to prevent CSF leakage. 8. Maximum effort should be made to facilitate primary closure of the soft tissue. Incision at the border of the dystrophic skin covering the MC and horizontal incision allows efficient skin transposition and closure. 9. Blunt dissection between the subcutaneous fat and the thoracolumbar fascia allows for the preservation of the perforating arteries. 10. Early signs of complications such as wound dehiscence, CSF leakage and infection of the operative site should be carefully monitored. [ABSTRACT FROM AUTHOR]

The article delves into perioperative management strategies for spina bifida patients, focusing on anesthesia, perioperative care, and spinal dysraphism. Topics include anesthesia, perioperative care, and spinal dysraphism management strategies such as surgical considerations, anesthetic concerns, and postoperative care.

The intrauterine repair of myelomeningocele presents certain advantages and has gained widespread acceptance. It significantly reduces the incidence of Chiari-2 anomalies and hydrocephalus, and it is thought to enhance the neurologic outcome. Nevertheless, several issues remain unsettled and there are no negligible disadvantages. After working with patients with myelomeningocele for 30 years, I thought about how we currently treat them. There are ethical, organizational, neurological, obstetrical, and postnatal aspects worth discussing. [ABSTRACT FROM AUTHOR]

This study aimed to translate and cross-culturally adapt the QUAlity of Life Assessment in Spina bifida for Children (QUALAS-C) and validate the Korean version of the QUALAS-C (QUALAS-C-K). Three urologists translated the QUALAS-C into Korean. Facial and content validity were assessed in the pilot study. Back-translation into English was performed. In the main study, the QUALAS-C-K and Korean version of KIDSCREEN-27 were administered simultaneously. Test-retest reliability was confirmed by re-administering the QUALAS-C-K. Internal consistency was verified using Cronbach's alpha. Factor analysis was performed, and convergent and divergent validity were demonstrated using the Korean version of KIDSCREEN-27. A total of 53 children with spina bifida participated in the main study. Cronbach's alpha for the overall instrument determined good internal consistency (0.72–0.85), the intraclass correlation coefficient showed good stability (0.74–0.77), and the factor analysis converged to the same two-factor structure as in the original version. Construct validity revealed weak-to-moderate associations (r ≤ 0.57) between QUALAS-C-K and K-KIDSCREEN-27, indicating that QUALAS-C-K measures different aspects of the HRQOL than K-KIDSCEEN-27. The QUALAS-C-K is a reliable and valid instrument for assessing the health-related quality of life of children with SB in Korea. Health-related quality of life (HRQOL) is an important patient-reported outcome among children with spina bifida (SB). The QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C) is a self-reported, age-appropriate, and condition-specific HRQOL questionnaire for children with SB, developed in the United States. Our study demonstrated that the Korean version of the QUAlity of Life Assessment of Spina bifida for Children (QUALAS-C-K) is a valid and reliable tool. The QUALAS-C-K is a succinct and valuable questionnaire that can be used to assess HRQOL of children with SB, particularly focusing on bladder and bowel problems in clinical practice and research. [ABSTRACT FROM AUTHOR]

Il existe une grande variété de dysfonctions sexuelles (DS) chez les patients atteints de pathologies neurologiques. L'objectif de notre étude était de rapporter une mise au point sur les DS chez ces patients. Une revue de la littérature a été réalisée sur la base de données PubMed en novembre 2023 en utilisant les mots clés « sexuality », « male infertility » et « erectile dysfunction » associés aux mots clés « neurological », « spinal dysraphism », « spinal cord injury » « multiple sclerosis » et « Parkinson's disease ». Les DS sont classées en dysfonctions primaires (liées à l'atteinte du système nerveux altérant la réponse sexuelle), secondaires (liées à l'atteinte physique) ou tertiaires (liées aux troubles psychosociaux). La prise en charge doit être pluridisciplinaire et concerner l'ensemble de ces types de dysfonction. Pour les troubles du désir, des traitements hormonaux substitutifs ainsi que des psychothérapies pourront être proposés (hors AMM chez la femme). En cas de dysfonction érectile, le même panel de thérapeutique que chez l'homme non neurologique est possible. En cas de trouble de l'excitation chez la femme, des IPDE5, des lubrifiants pouvant être associés à des vibreurs ont montré leur efficacité. En cas de troubles de l'éjaculation, un traitement par midodrine et une prise en charge en centre de PMA peuvent être proposés. Les DS du patient neurologique sont à évaluer de façon pluridisciplinaire afin d'améliorer la qualité de vie des patients et de leur proposer une prise en charge adaptée à la pathologie neurologique. There are a wide variety of sexual dysfunctions (SD) in patients with neurological diseases. The aim of our study was to report an update on SD in these patients. A literature review was conducted on the PubMed database in November 2023 using keywords "sexuality", "male infertility" and "erectile dysfunction" associated with the keywords "neurological", "spinal dysraphism", "spinal cord injury", "multiple sclerosis", and "Parkinson's disease". SD are classified as primary dysfunctions (related to the involvement of the nervous system altering the sexual response), secondary (related to physical impairment) or tertiary (related to psycho-social disorders). Management must be multidisciplinary and concern all these types of dysfunction. For desire disorders, hormonal substitution treatments and psychotherapies may be offered. In case of erectile dysfunction, the same panel of therapeutics as in non-neurological patients is possible. In case of excitation disorder in women, IPDE5 and lubricants that can be associated with vibrators have shown their effectiveness. In case of ejaculation disorders, treatment with midodrine and treatment in a PMA center can be offered. The SD of the neurological patient are to be evaluated in a multidisciplinary way in order to improve the quality of life of the patients and to propose them a management adapted to the neurological pathology. [ABSTRACT FROM AUTHOR]

Introduction: Spinal dysraphism is the most frequent cause of neurogenic bladder. Urodynamic study (UDS) is an important component of the follow-up of a child with neurogenic bladder. However, it suffers from a lack of widespread availability and is further hampered by technical difficulties and difficulty in its interpretation in children. A neurogenic bladder often appears vertically elongated; only limited and sparse literature is available regarding objectively defining the bladder shape and the urodynamic parameters in the cohort. Objectives: This study aimed to investigate the usefulness of the bladder's height-to-width ratio (HWR) on cystogram as a screening tool for identifying "non-physiological" bladder pressures in children with spinal dysraphism. A prospective study was undertaken to evaluate children operated for spinal dysraphism. Cystogram, ultrasonography and UDS evaluation were performed. HWR was calculated by the ratio of the maximum height to the maximum bladder width at maximum cystometric capacity (MCC), where MCC was calculated using standard Koff's formula, given by (age in years + 2) *30 ml in children more than one year and weight *7 ml for infants. The children were categorised into groups based on maximum detrusor pressure (MDP) into two groups (MDP ≥ 30 cmH2O and MDP < 30 cmH2O). A receiver-operative characteristic curve was constructed to analyse the sensitivity and specificity of HWR in predicting the MDP. Results: A total of 53 children, operated for spinal dysraphism, met the study criteria during the study period, from March 2021 to September 2022. The median age of children was 4 years (IQR—3–5.5 years). The HWR ratio was compared between the two groups and was significantly higher for the non-physiological pressure bladders than for physiological pressure bladders (mean of 1.55 vs 1.26, p = 0.001). On evaluating the sensitivity and specificity of HWR for discerning children with non-physiological bladder pressures were 87.5% and 48.28%, respectively. The area under the curve (AUC) was 0.781, with a cut-off value of 1.3. Discussion: We attempted to evaluate the HWR based on bladder shape objectively. We demonstrated a moderate correlation between the bladder shape and the bladder pressures. An HWR of 1.3 or higher could be significant for identifying a non-physiological bladder storage pressure. Conclusion: The height to width ratio of the bladder on cystogram is a useful tool as a surrogate marker for non-physiological storage pressures in bladders of children with spinal dysraphism. [ABSTRACT FROM AUTHOR]

Intramedullary spinal capillary hemangioma is a rare occurrence in pediatric patients, and only limited cases have been reported. This study presents the first two cases of spinal capillary hemangioma co-present with retained medullary cord and one case of spinal capillary hemangioma with lumbosacral lipomatous malformation. Previous literature on ten patients with this pathology was reviewed. We speculated pathogenesis, imaging features, and histopathologic findings of the disease. [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]

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]

Introduction: Spinal dysraphism includes a diverse collection of congenital spinal abnormalities that occur due to flawed closure of the neural tube and can be classified as open or closed types. The most common form of open spinal dysraphism is Myelomeningocele (MMC), which is characterised by a bony spinal defect and a sac in the back region containing dysplastic neural tissue and cerebrospinal fluid. MMC is associated with various intracranial and spinal anomalies that can lead to neurological, intellectual, and cognitive impairments. Imaging is necessary for the diagnosis of these anomalies and for surgical management planning and follow-up. Aim: To evaluate the associated intracranial and spinal anomalies in infants with MMC who presented with low back swelling since birth. Materials and Methods: The retrospective observational study was conducted in the Department of Radiology at Gajara Raja Medical College, Gwalior, Madhya Pradesh, India, from January 2020 to December 2022. A total of 117 subjects under one year of age, clinically diagnosed with MMC, were included in the study. Brain Magnetic Resonance Imaging (MRI) images were available for 84 patients, and spine MRI images were available for 113 patients. The MRI images were evaluated for bony and spinal anomalies. Data analysis was performed using IBM’s Statistical Package for Social Sciences (SPSS) version 20.0. Results: The mean age of the study participants was 1.7±2.9 months, with 70 males and 47 females (M:F=1.5:1). The most common location of spina bifida was lumbosacral 36 (31.9%), followed by lumbar 31 (27.4%), dorsolumbar 30 (26.5%), and sacral 16 (14.2%). A low-level spinal defect was observed in 39 cases (34.5%), and a high-level spinal defect was observed in 74 cases (65.5%). The spinal anomalies detected on MRI included syringomyelia 80 (70.8%), low-lying cord 59 (52.2%), bony abnormalities 26 (23.01%), diastematomyelia 16 (14.2%), and fatty filum terminale 3 (2.7%). Among the intracranial anomalies, the most common was dilated lateral ventricles 62 (73.8%). The most common infratentorial anomaly was Chiari II malformation 58 (69.1%). Corpus Callosum (CC) abnormalities were found in 40 cases (47.6%), with complete agenesis seen in three cases (3.6%), cerebellar hypoplasia in 20 cases (23.8%), absent septum in 15 cases (17.9%), and colpocephaly in 10 cases (11.9%). Conclusion: Spinal dysraphism, such as MMC, and cerebral anomalies often co-exist and can have an impact on neurological, intellectual, and cognitive functions. Chiari II malformation, corpus callosal anomalies, ventriculomegaly, and syringomyelia are frequently associated with MMC. Therefore, imaging evaluation of both the spine and brain is necessary for surgical treatment planning and long-term follow-up in MMC.

Split cord malformations are disorders of gastrulation. Disorders of secondary neurulation occur later and are traditionally considered separate from the former. Complex split cord malformations involving both the cord and the conus and encompassing the epochs of gastrulation, primary neurulation, junctional neurulation, and secondary neurulation have not been described in literature. We present a four-year-old boy with such a malformation and postulate the embryological mechanism involved. The clinical vignette of this unique case has been described. We report a good clinical outcome in this patient with surgical management. [ABSTRACT FROM AUTHOR]

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 / 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. [ABSTRACT FROM AUTHOR]

Purpose: The aim of the present study is to evaluate a population of young patients affected by Spina Bifida (SB) to describe their cardiorespiratory function and bone mineral density profile, analyzing any differences between people performing and those who do not perform sports activity. The study also aimed to rule out possible congenital heart disease associated with spina bifida, considering the common origin of certain cardiac structures with those found to be altered in SB patients. Methods: Thirty-four young patients, aged between 12 and 22 years, diagnosed with spinal dysraphism (SD), have been clinically described and, in order to evaluate their physical fitness, functional capacity and bone mass, almost all of them underwent a complete cardiorespiratory assessment, including electrocardiogram (ECG), echocardiogram, Cardiopulmonary Exercise Test (CPET), body composition analysis using bioimpedance analysis (BIA) and Dual Energy X-ray Absorptiometry (DEXA), as well as the estimation of bone mineral density (BMD) with Computerized Bone Mineralometry (CBM). Results: Collected data demonstrated that only 35% of the subjects practiced physical activity during the week. BMI and percentage FM values were pathological in at least 50% of the population. On cardiological investigations (ECG and echocardiogram), no significant alterations were found. In all patients who performed CPET (79.4%), pathological values of the main functional capacity parameters were revealed, especially peak oxygen consumption (VO2 peak), even when corrected for BCM or FFM estimated at BIA and DEXA, respectively. In the CBM analysis, out of 27 patients in whom the femoral T-score was evaluated, a condition of osteopenia was revealed in 40.7% of the patients (11/27) and osteoporosis in 18.5% (5/27); out of 27 patients in whom the lumbar T-score was evaluated, 37% of the patients showed osteopenia (10/27) and 29.6% osteoporosis (8/27). When the comparison between exercising and non-exercising patients was performed, the only statistically significant difference that emerged was the median lumbar T-score value, which appeared lower in the group not performing physical activity (p = 0,009). Conclusions: The extensive cardiorespiratory evaluation, including CPET, of our cohort of spina bifida patients showed altered values of the main parameters related to cardiorespiratory fitness and is the only study in the literature that analysed bone mineralization values in physically active and sedentary spina bifida patients and demonstrated a statistically significant difference. Furthermore, it is the only study to date that investigated the possible association of congenital heart diseases with SD, without demonstrating the existence of pathological conditions. [ABSTRACT FROM AUTHOR]

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Extrarenal Wilms tumor is rare, but its association with spinal dysfraism is even rarer, and to our knowledge, there is no association with meningomyelocele sac in the literature. Our case was a 36-month-old baby with a meningomyelocele sac in the lumbar region. No additional anomaly was detected, and the baby had no leg movements. Magnetic resonance imaging examination revealed a 24x10 mm meningomyelocele sac and an 18x30x27 mm contrast-forming mass in the sac. Mass resection was performed during sac repair. Histological examination revealed a three-phase tumor consisting of a stromal component containing fibrous and fatty tissue, an epithelial component containing primitive glomeruli and tubule structures consisting of papillary structures with fibrovascular nuclei within cystic structures, and a blastemal component containing oval primitive cells between epithelial areas. Immunohistochemically, the blastemal and epithelioid components were stained positively with WT1, the stromal component with vimentin, and the epithelial component with PanCK and EMA. In this form, the case was defined as an extrarenal Wilms tumor associated with a meningocolocele. This case was valuable in terms of showing that Wilms tumor should be included in the differential diagnosis of masses with meningomyelocele and the importance of total resection of these lesions. [ABSTRACT FROM AUTHOR]

Introduction: Intradural spinal lipomas are very rare and constitute less than 1% of all spinal tumors. Such tumors are usually associated with spinal dysraphism and occur mostly in the lumbosacral or cervical region. Intradural spinal lipomas tends to be intramedullary or subpial. Meningeal melanocytoma is further rarer cases that comprise less than 0.1% of cases. These usually occur in the fifth or fifth decade and chances of malignant transformation are high. Case report: Here, we report an extremely rare case (first to the best of our knowledge) of a 9 years female child who presented to us with rapid progressing paraparesis. She was operated and found to have an intradural purely extramedullary spinal lipoma without spinal dysraphism. Moreover, she had melanin pigment deposits all over her meninges which is further rare. On presentation, the patient was bedridden but after surgery, the patient improved and could walk without support. Conclusions: To the best of our knowledge, this is the first case of spinal cord lipoma in dorsal location along with melanin pigments in the meninges. We discuss the pathogenesis, presentation and management of intradural extramedullary spinal lipomas. [ABSTRACT FROM AUTHOR]

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]

Patients with midline cutaneous anomalies of the craniospinal axis can be indicative of underlying embryonic defects, such as neural tube defects. Lack of familiarity with these midline aberrant skin findings may lead to misdiagnosis and delayed treatment. In this review, midline cutaneous anomalies of the craniospinal axis including aplasia cutis congenita, cranial and spinal dysraphism, and other developmental anomalies are explored in detail with emphasis on cutaneous clues to the diagnosis and appropriate workup. [ABSTRACT FROM AUTHOR]

ABSTRACT Objective: To report the need for cord untethering after prenatal repair of open spina bifida using a unique biocellulose-based technique performed at a later gestational age. Methods: An observational cohort study was conducted to determine the incidence of tethered cord syndrome. Between May 2013 and May 2022, we performed 172 procedures using the percutaneous fetoscopic approach in fetuses at 26-28 weeks of gestation. After placode dissection, a biocellulose patch was placed to cover the placode, a myofascial flap (when possible) was dissected, and the skin was closed. Owing to death or loss to follow-up, 23 cases were excluded. Cord tethering syndrome was defined as symptoms of medullary stretching, and the infants were evaluated and operated on by local neurosurgeons after an magnetic resonance imaging examination. Infants over 30-month had ambulation and neurodevelopment evaluations (PEDI scale). Results: Among 172 cases operated at a median gestational age of 26.7 weeks and delivered at 33.2 weeks, 149 cases were available for postnatal follow-up, and cord untethering was needed in 4.4% of cases (6/136; excluding 13 cases younger than 12 months). Cerebrospinal fluid diversion and bladder catheterization were needed in 38% and 36% of cases, respectively. Of the 78 cases evaluated at 30 months, 49% were ambulating independently, and 94% had normal social function. Conclusion: The biocellulose-based technique was associated with a low rate of cord tethering, wich may be attributed to the lack of the duramater suture during prenatal repair, the formation of a neoduramater and/or later gestational age of surgery.

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.

Spinal dysraphism (SD) refers to the abnormal fusion of dorsal midline structures during embryogenesis. It encompasses a variety of congenital spinal defects, ranging from an overt defect in which neural tissue is exposed with no overlying skin (open SD) such as myelomeningoceles to skin-covered malformations (closed or occult SD). A 13-year-old boy presented with recurrent multiple painless ulcers and erosions over the tips of the toes, mainly involving the right foot with hemorrhagic crusts for 5 years. A review of systems revealed back pain, urine incontinence, and numbness in his right knee. He was diagnosed with peripheral neuropathic ulcers and tethered cord syndrome secondary to SD and confirmed by MRI. He underwent cord detethering and lipoma resection as well as expectant therapy with satisfying outcomes. Physicians should consider early diagnosis of SD to avoid later neurological complications of SD (traction and/or pressure on the spinal cord) when infants are presented with such anomalies: MRI, close follow-up, and neurosurgical intervention may be recommended.

Purpose We compared heart rate variability parameters between patients with spina bifida and a control group during urodynamic studies, with the goal of evaluating the autonomic nervous system dysfunction present in spina bifida. Methods Continuous heart rate variability parameters were recorded during 3 successive periods (P0, the 2 minutes prior to the start of filling; P1, from the start of filling to the first desire to void; and P2, from P1 to the end of filling or the start of voiding). The control group consisted of children with vesicoureteral reflux who had undergone video-urodynamic studies. Our study included 11 patients with spina bifida and 9 control participants. Results At baseline, patients with spina bifida exhibited lower values for the root mean square of successive differences in NN intervals, the percentage of successive R-R interval differences exceeding 50 msec relative to the total number of intervals, and high frequency (HF). In contrast, the low frequency (LF)/HF ratio was elevated in these patients (5.04 ± 4.75 vs. 0.67 ± 0.42, P = 0.014). During bladder filling, LF/HF values increased in the control group (P0, 0.67 ± 0.42; P1, 0.89 ± 0.34; P2, 1.21 ± 0.64; P = 0.018), while they declined in patients with spina bifida (P0, 5.04 ± 4.75; P1, 3.96 ± 4.35; P2, 3.26 ± 4.03; P < 0.001). The HF values were significantly elevated in children with spina bifida during bladder filling (P = 0.002). In the time domain, the standard deviations of all NN intervals were elevated only in the control group during bladder filling. Parasympathetic activity domains were reduced in the children with spina bifida at the initial assessment. Conclusions During the bladder filling phase, parasympathetic activity increased along with fixed sympathetic activity in the spina bifida group. In contrast, the control group exhibited a shift towards a sympathetic preponderance at the conclusion of bladder filling. These observations may be associated with the pathophysiology of neurogenic bladder in spina bifida.

The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare birth disorder involving a combination of gastrointestinal, musculoskeletal, renal, neural, and genitourinary system defects. We present a case report of a neonate with OEIS born by vertex spontaneous delivery to non-consanguineous parents. The major presenting defect was exstrophy of the cecum lying between two exstrophied halves of the bladder, an imperforate anus and spina bifida myelomeningocele. Explorative laparotomy revealed a duplex kidney system, attachment of the terminal ileum and cecum to the exstrophy, and a sausage-like atretic large bowel. Malrotation was also noted. Ladd's bands were released followed by ileostomy and ureterostomy. Patient was stable post-operatively and in the incubator on room air. OEIS remains a challenging anomaly that requires optimal treatment to facilitate the quality of life. With appropriate surgical intervention, the functional and social treatment goals for this unusual congenital defect can be met. [ABSTRACT FROM AUTHOR]

This review highlights the need for therapeutic guidelines for syringomyelia associated with tethered cord syndrome (TCS) caused by spinal dysraphism (SD). A comprehensive literature review was conducted, selecting twelve articles to analyze common therapeutic strategies. Surgical cord untethering alone has recently become a preferred treatment, with 45 ± 21.1% of patients experiencing remission or improvement, 47 ± 20.4% unchanged and asymptomatic, and 4 ± 8% worsened. Untethering with direct surgical drainage for the syrinx had better outcomes than untethering alone (78% vs. 45%, p = 0.05). Terminal syringostomy was beneficial for syrinxes extending to the filum terminale but not for asymptomatic small syrinxes with a syrinx index < 0.4. Syrinx shunting was recommended for symptomatic large syrinxes (>2 cm in length and syrinx index > 0.5). Various shunt procedures for syrinxes are still advocated, mainly for refractory syringomyelia in Chiari malformation, posttraumatic cases, SD, or other causes. Personalized surgical methods that address the root cause of syringomyelia, particularly those improving cerebrospinal fluid flow, offer promising results with minimized complications. Ongoing studies are required to enhance management strategies for syringomyelia associated with TCS, optimize patient outcomes, and reduce the risk of recurrent symptoms.

AimTo measure resilience and identify associated demographic and clinical factors in individuals with spina bifida.MethodAn anonymous survey was distributed via Facebook advertising to individuals with congenital urological conditions. Respondents 18 years or older with spina bifida were included in this study. Resilience was measured with the 10-item Connor-Davidson Resilience Scale. Mean resilience levels in the study population and a US general population sample were compared with Student's t-test. Multiple linear regression assessed demographic and clinical factors associated with resilience.ResultsThe mean resilience score for participants (n=195; 49 males, 146 females; mean age 40y 2mo [SD 12y 7mo] range 18-74y) was 27.2 (SD 7.5), which differed from a mean of 31.8 (SD 5.4) for a US general population sample (p

Abstract Background Children with spina bifida (SB) may have congenital or acquired foot deformities due to neurological defects in the spinal cord. As the musculoskeletal system keeps growing, foot deformities can develop or become aggravated. Thus, healthcare providers should provide constant monitoring and proper orthopedic management. Since foot deformities can affect not only the gait but also the daily life of children with SB, it is necessary to investigate the impact of foot deformities on everyday life. The purpose of this study was to examine the relationship between foot deformity and health-related quality of life (HRQoL) among independently ambulating children with SB. Methods This cross-sectional study examined the associations between foot deformity and HRQoL using two patient-reported outcome measures (Oxford Ankle Foot Questionnaire, Pediatric Outcomes Data Collection Instrument) in 93 children with SB aged 7–18 years between January 2020 and July 2021. Results Children with foot deformity (n = 54) reported lower scores in all subscales (physical, school and play, emotional, and footwear) of the Oxford Ankle Foot Questionnaire for children than those without foot deformity (n = 39; p

Background - Anterior lumbar- sacral meningocele is an uncommon type of spinal dysraphism, which can occasionally be linked to syndromes like Currarino and Marfan syndromes. While neurological complications are infrequent with these lesions, secondary conditions such as meningitis, sepsis, obstetric issues, and bowel and bladder difficulties are frequently observed. Surgical intervention is the established treatment approach for symptomatic or enlarging masses since these lesions do not typically resolve spontaneously. Repairing the dural defect can be achieved using either anterior or posterior surgical approaches. Aims and Objectives - The objective of this investigation was to diagnose individuals exhibiting symptoms related to large anterior lumbar-sacral meningocele and to examine the management difficulties and outcomes associated with these tumors. Material and Methods - This retrospective study included two patients admitted with radiologically diagnosed anterior lumbar-sacral meningocele under department of neurosurgery, GRMC and associated J.A. group of Hospitals from May 2013 to November 2022 who underwent surgery. No randomisation done. Results - The primary objective in the management of anterior lumbar-sacral meningoceles is the complete cessation of communication between the spinal subarachnoid space and the meningocele. Several reported procedures encompass the posterior approach involving sacral laminectomy and ligation of the neck of the anterior sacral meningocele, the transabdominal approach with meticulous suturing of the neck of the meningocele, the perineal approach, and the utilisation of lumboperitoneal shunt insertion in instances where surgical closure proves ineffective for large fistulas. Conclusion- In general, patients diagnosed with anterior lumbar-sacral meningocele exhibit favourable prognosis and surgical outcomes. Surgical closure is considered the optimal therapeutic strategy for addressing anterior lumbar-sacral meningoceles, primarily due to their inherent lack of spontaneous regression and inclination towards progressive enlargement, which increases the risk of complications. However, it is important to acknowledge that surgical intervention for anterior lumbar-sacral meningoceles presents demanding and challenging circumstances. The intricate nature of the procedure, coupled with the rarity of these defects, contributes to the surgical complexities associated with their management. [ABSTRACT FROM AUTHOR]

Background: The dorsal cutaneous appendage or so-called human tail is considered to be a cutaneous marker of underlying occult dysraphism. Case presentation: We are presenting an unusual case of spinal dysraphism with a bony human tail at midthoracic region occurring in a newborn baby with tethered cord (conus at L4). Physical examination was unremarkable except for a thoracic appendage and a dermal sinus over coccyx region. Magnetic resonance imaging (MRI) scan of spine revealed bony outgrowth arising from D7 posterior element with multiple butterfly-shaped vertebrae found at D2 D4 D8 D9 D10 with low-lying conus at L4-L5 level. Surgical excision of the tail and untethering of the spinal cord along with excision of dermal sinus were performed. The infant had an uneventful postoperative period and was unchanged neurologically. Conclusion: To our knowledge, no similar case has been reported in English literature till date. Discussion: The specific features of this rare case of human tail treated surgically are discussed in light of the available literature. [ABSTRACT FROM AUTHOR]

Purpose: Patients with neurogenic lower urinary tract dysfunction (nLUTD) can be at risk of preventable damage to the upper urinary tract (UUT), a risk that varies with the underlying diagnosis. Existing literature fails to document precisely which domains of UUT must be followed. This review focusses on surveillance of UUT with special emphasis on high-risk nLUTD. Methods: Narrative review of available evidence and current global guidelines to identify patients of nLUTD at higher risk of UUT damage and to define each domain that needs to be followed. Results: Patients with open spina bifida, spinal cord injury, and anorectal malformation, as well as those with unsafe features on clinical evaluation or urodynamics should be considered at high risk. Structured program should include evaluation of (1) glomerular filtration rate (GFR) which can be estimated ± measured, (2) renal growth (in pre-pubertal children) by ultrasonography, (3) renal scarring by baseline nuclear renogram, (4) hydronephrosis and stones by ultrasonography, (5) vesicoureteral reflux by baseline video-urodynamics, (6) non-GFR measures of renal function (somatic growth, hypertension, proteinuria, anemia and metabolic acidemia). Serum creatinine-based estimations of GFR are more likely to be confounded in select patients with high-risk nLUTD than cystatin-based estimations and measured-GFR. Urological guidelines do not always describe details of UUT surveillance and appear to lack cognizance of nephrology guidelines for evaluation of kidneys. Conclusion: A structured surveillance protocol that includes clear documentation of each domain of the UUT is important in ensuring optimum care for patients with high-risk nLUTD. [ABSTRACT FROM AUTHOR]

It remains unclear whether spinal cord untethering is necessary to reduce the chances of neurologic decline in children with myelomeningocele and complex closed spinal dysraphism who undergo thoracolumbar fusion for scoliosis. We sought to determine the neurologic and functional outcomes of children with spinal dysraphism undergoing spinal fusion for scoliosis with and without prophylactic spinal cord untethering. Retrospective, single-center review of patients with spinal dysraphism treated with thoracolumbar fusion over the last 10 years (2009–2019) with or without prophylactic spinal cord untethering. Seventeen patients with myelomeningocele and complex closed spinal dysraphism underwent spinal fusion for scoliosis. Mean age at time of surgery was 13.9 years. Prophylactic spinal cord untethering was performed in 8 of 17 (47%) patients. The change in Cobb angle after surgery was similar between the 2 groups (19.4° untethered vs. 19.9° no untethering). The ambulatory status was similar between the groups, with 37% of the untethered cohort and 44% of the non-untethered cohort being community or household ambulators. There were no changes in intraoperative motor or sensory evoked potentials in any patient during fusion surgery. No patient had a change in motor level or ambulatory status after scoliosis surgery. Our data suggest that prophylactic spinal cord untethering in children with spinal dysraphism undergoing thoracolumbar fusion for scoliosis may not be necessary in patients with moderate curvatures. Our conclusions are limited by the small sample size. A larger review of registry data may yield more powerful conclusions on the necessity of prophylactic spinal cord untethering in this patient population. [ABSTRACT FROM AUTHOR]

The QUAlity of Life Assessment in Spina bifida (QUALAS) for adults (QUALAS-A) evaluates the health-related quality of life (HRQOL), reflecting the condition specificity of adults with spina bifida (SB). The study's purpose was to translate and cross-culturally adapt the QUALAS-A into Korean and validate a Korean-modified version of the QUALAS for Young Adults (QUALAS-YA-Km). Face and content validity were evaluated in the pilot study. Internal consistency and test-retest reliability were confirmed in the main study. Factor analysis was performed, and convergent and divergent validity was verified using the World Health Organization Quality of Life assessment instrument abbreviated version (WHOQOL-BREF). Forty-seven adults had myelomeningocele. Five items with low communality were deleted through the factor analysis, and the domains were renamed. The QUALAS-YA-Km showed good internal consistency (Cronbach's alpha 0.73–0.83) and excellent test-retest reliability (intraclass correlation coefficient 0.84–0.89). The QUALAS-YA-Km showed good convergent and divergent validity, with weak to strong correlations with the WHOQOL-BREF. Developed with consideration of Korea's cultural characteristics, the QUALAS-YA-Km is a convenient and reliable instrument, with good internal consistency, stability, and construct validity. This can be a useful tool in clinical and research settings for HRQOL optimization in young adults with SB. Optimizing health-related quality of life (HRQOL) is one of the goals of people with spina bifida (SB), which requires HRQOL measurements that reflect the condition specificity of SB The QUAlity of Life Assessment of Spina bifida for Adults (QUALAS-A) is a self-reported HRQOL questionnaire for adults with SB developed in the United States, which is used in research and clinical practice The present study revealed that the Korean modified version of the QUAlity of Life Assessment of Spina bifida for Young Adults (QUALAS-YA-Km), developed in consideration of the cultural characteristics of Korea, is a valid, convenient, and reliable tool The QUALAS-YA-Km, is a useful tool that can be used in clinical and research settings for HRQOL optimization in adults with SB [ABSTRACT FROM AUTHOR]

Objectives: In the past 50 years, pediatric neurosurgery has made tremendous strides, and gained its own identity as a distinct subspecialty. I have personally observed this progress and evolution in pediatric neurosurgery in multiple dimensions, which are described based upon my own experience and reflection. Methods: The development and evolutions of multiple domains of pediatric neurosurgery, including neuroimaging, hydrocephalus, pediatric brain tumor, spinal dysraphism, craniosynostosis, vascular malformation, functional neurosurgery and spinal disorders were reviewed and commented on based upon my own experience and reflection. Results: The field of pediatric neurosurgery has grown in all aspects of diagnosis and therapy owing to the introduction of computers, innovative techniques and technologies and new discoveries of scientific data including molecular investigations. Conclusion: A minimally invasive approach and molecular target therapy are a current trend. The past half century's clinical experience and advances in biomedical knowledge and techniques provide foundation for further improvement in the care of children of the next generation. Prospective artificial intelligence will likely promote further advances in pediatric neurosurgery. [ABSTRACT FROM AUTHOR]

PURPOSE: This study aimed to analyze organ system-based causes and non-organ system-based mechanisms of death (COD, MOD) in people with myelomeningocele (MMC), comparing urological to other COD. METHODS: A retrospective review was performed of 16 institutions in Canada/United States of non-random convenience sample of people with MMC (born > = 1972) using non-parametric statistics. RESULTS: Of 293 deaths (89% shunted hydrocephalus), 12% occurred in infancy, 35% in childhood, and 53% in adulthood (documented COD: 74%). For 261 shunted individuals, leading COD were neurological (21%) and pulmonary (17%), and leading MOD were infections (34%, including shunt infections: 4%) and non-infectious shunt malfunctions (14%). For 32 unshunted individuals, leading COD were pulmonary (34%) and cardiovascular (13%), and leading MOD were infections (38%) and non-infectious pulmonary (16%). COD and MOD varied by shunt status and age (p < = 0.04), not ambulation or birthyear (p > = 0.16). Urology-related deaths (urosepsis, renal failure, hematuria, bladder perforation/cancer: 10%) were more likely in females (p = 0.01), independent of age, shunt, or ambulatory status (p > = 0.40). COD/MOD were independent of bladder augmentation (p = >0.11). Unexplained deaths while asleep (4%) were independent of age, shunt status, and epilepsy (p >= 0.47). CONCLUSION: COD varied by shunt status. Leading MOD were infectious. Urology-related deaths (10%) were independent of shunt status; 26% of COD were unknown. Life-long multidisciplinary care and accurate mortality documentation are needed. [ABSTRACT FROM AUTHOR]

Purpose: To present our initial experience with periurethral adjustable continence therapy (ACT™) for urinary incontinence due to intrinsic sphincter deficiency (ISD) in children. Methods: This is an approved prospective non-randomized pilot study (NCT03351634) aiming to treat children born with spinal dysraphism (SD) or exstrophy epispadias complex (EEC) with ACT™. Endpoints were patient-reported changes in daily pad count, 24-h Pad test and complications. Results: Since April 2018, 13 children (six girls, seven boys) were implanted at the median age of 12 years (5–16). The etiology of incontinence was neurogenic ISD (7/13, 54%) and EEC (6/13, 46%). After ACT™ implantation, continence (no pad or 1 security pad/day) was achieved in 9(69%) patients (5/7 SD, 4/6 EEC). Additionally, two (15%) patients had a significant improvement (decreasing Pad test from 1049 to 310 g at 3 months). One patient (7%) had no improvement. Results were stable at 21 months (6–43) of follow-up. Mean final balloon volume was 2.89 ml (± 0.85) with a median of 3 fillings to obtain continence. We had four revisions due to cutaneous port erosion (n = 3) and balloon migration (n = 1) and two definitive explantations. PinQ score was significantly improved (47 vs 40.5 with balloon, p = ns). Neither degradation of the upper urinary tract nor cystomanometric changes have been observed at 6 and 12 months postoperatively. Conclusion: Urinary incontinence due to ISD owing to EEC or SD can be successfully treated with ACT™ periurethral balloons. Given the minimal invasiveness of this therapy, it might be a first‐line option treatment in children with complex stress urinary incontinence. [ABSTRACT FROM AUTHOR]