Search

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]

Copyright of Magyar Radiológia Online is the property of Society of Hungarian Radiologists and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

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]