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Spina bifida (SB), a rare congenital disorder, is often mentioned as an individualizing factor in Forensic Anthropology. A lack of empirical data regarding SB is noticed in the scientific literature. Moreover, within the scope of anthropological research on SB disparities in terminology, classification systems, and methodological approaches result in incomparable results. The wide range (1,2%-50%) of "spina bifida occulta" reported prevalences is a good example. This research aims to analyze and debate the standard diagnostic criteria of SB on human skeletal remains, and attempts to elaborate on an universal system, premised on the distinction between SB as a pathology, and cleft neural arch (CNA) as an anatomical variant, according to Barnes (1994, p. 360 [1). A study-base of 209 individuals (88 males; 121 females; 44-99 years old) from the 21st Century Identified Skeletal Collection from the University of Coimbra (CEI/XXI) was macroscopically analyzed, focusing on the sacrum and remaining vertebrae. Four individuals presented complete posterior opening of the sacral canal (2,6%[4/156]). The observed bone changes, combined with the analysis of the entire skeleton, indicate that CNA, rather than SB linked to a neural tube defect, is the most reliable explanation for these cases. Overall, CNA was observed on 11 skeletons (7.05% of 156). The viability and applicability of the developed methodology for the identification of SB/CNA in forensic and/or osteological contexts are discussed, as well as the possibility of a lower prevalence of SB occulta, in the general population, than speculated before. HIGHLIGHTS: • Spina bifida has been studied so far under different methodologies, classification systems and nomenclature, leading to unstandardized and incomparable data. • Spina bifida as a pathological manifestation of a neural tube defect, as opposed to cleft neural arch as a simple form of skeletal variation. • Both spina bifida and complete sacral cleft fit the criteria of an individualizing trait in Forensic Anthropology., (© 2023. The Author(s).)

Background: Lumbar spondylolysis, a common identifiable cause of low back pain in young athletes, reportedly has a higher incidence rate in males. However, the reason for its higher incidence in males is not clear. This study aimed to investigate the epidemiological differences between the sexes in adolescent patients with lumbar spondylolysis., Methods: A retrospective study was conducted in 197 males and 64 females diagnosed with lumbar spondylolysis. These patients visited our institution from April 2014 to March 2020 with their main complaint being low back pain, and they were followed-up until the end of their treatment. We investigated associations between lumbar spondylosis, their background factors, and characteristics of the lesions and analyzed their treatment results., Results: Males had a higher prevalence of spina bifida occulta (SBO) (p = 0.0026), more lesions with bone marrow edema (p = 0.0097), and more lesions in the L5 vertebrae (p = 0.021) than females. The popular sports disciplines were baseball, soccer, and track and field in males, and volleyball, basketball, softball in females. The dropout rate, age at diagnosis, bone union rate, and treatment period did not differ between the sexes., Conclusion: Lumbar spondylolysis was more common in males than in females. SBO, bone marrow edema, and L5 lesions were more frequent in males, and sports discipline varied between the sexes., (© 2023. The Author(s).)

Purpose: To investigate the association of spinal anomalies with lumbar spondylolysis and spina bifida occulta (SBO)., Methods: A total of 1190 patients with thoracic, abdominal, and pelvic computed tomography scans available were categorized according to the number of presacral (thoracic and lumbar) mobile vertebrae and the presence or absence of lumbosacral transitional vertebrae (LSTV). The prevalence of spondylolysis and SBO and the association of spinal anomalies with these disorders were evaluated., Results: Normal morphology (17 mobile vertebra with no LSTV) was found in 607 men (86.5%) and 419 women (85.9%) and about 14% of patients had anomalies. Spondylolysis was found in 74 patients (6.2%), comprising 54 men (7.7%) and 20 women (4.1%). SBO involving the lumbar spine was found in 9 men (1.3%) and 2 women (0.4%). Spondylolysis was significantly more common in men with 18 vertebrae without LSTV (21.1%) than in those with 17 vertebrae without LSTV (7.2%) (p = 0.002). The prevalence of spinal anomalies was 55.6% in men and 50.0% in women with SBO that included a lumbar level was significantly higher than in both men (13.5%, p < 0.001) and women (4.8%, p = 0.003) without SBO., Conclusion: These findings indicate that there is a relationship between spinal anomalies and both spondylolysis and SBO, which may lead to elucidation of the mechanism of onset of spondylolysis and improve its treatment and prognosis. Awareness that patients with SBO involving the lumbar spine have an increased likelihood of a spinal anomaly may help to prevent level errors during spinal surgery., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Spina bifida may occur during the first weeks after conception; folic acid deficiency is strongly related to this anomaly. We argue that the low prevalence rate of spina bifida may indicate a relatively good nutrition state of a population, given that folic acid is found in many food products commonly eaten. The aim of this study is to examine the relationship between folic acid intake and spina bifida occulta prevalence in the Belentepe Byzantine population in Anatolian peninsula, and to compare the prevalence rates with various other ancient Anatolian populations by focusing on sacral spina bifida occulta in the Byzantine population. A total of 62 available human sacra were included in the study and compared with other sacra from relevant research using chi-squared test. Four male individuals had sacral spina bifida occulta with a prevalence rate of 6.45%, which is found to be lower in comparison to other ancient populations from western to eastern Anatolia. The present-day ecology of Belentepe indicates that foods rich with folic acid are common in and around the region. While some studies indicate the contrary, a comparison regarding the sacral spina bifida occulta prevalence with other populations in Anatolia shows a correlation between folic acid intake and proximity to a Mediterranean climate.

Objective: To document sacral spina bifida occulta (SSB0) prevalence in a population sample from the Dakhleh Oasis, Egypt, and address methodological issues in recording and quantifying SSBO variations., Materials: 442 adult sacra from two temporally disjunct samples from the same deme traversing the 3rd intermediate (TIP) and the Roman Periods., Methods: Sacra were scored for SSBO, excluding the sacral hiatus. Risk of SSBO was calculated with the common odds ratio and statistical significance by X 2 . Data were compared to other archaeological SSBO data., Results: SSBO was present in 15.6% of the sample with a slight, but not significant, temporal increase (TIP to Roman Period) in males, and a significant age-correlated increase in both sexes. Most open sacra occurred in young adults., Conclusions: Data support that SSBO can be considered as a morphogenetic variant. Dakhleh data fall within the prevalence range for most populations, however inter-population comparisons are complicated by methodological inconsistencies., Significance: SSBO can be used in paleogenetic research., Limitations: Methodological differences in scoring SSBO prevent effective comparative study., Suggested Future Research: Future studies require more rigorous and standardized scoring methods. aDNA may be used to corroborate the morphogenetic value of SSBO and determine its clinical significance., (Copyright © 2019. Published by Elsevier Inc.)

Objectives: To evaluate the awareness of spina bifida (SB), risk factors and possible preventive measures among mothers who had been following in our clinic with a spina bifida affected child. Methods: A cross-sectional questionnaire-based study with 38 mothers of SB patients who are following at SB and hydrocephalus clinic at King Fahad University Hospital, Khobar, Eastern Province, Saudi Arabia., Results: Thirty-eight mother were included in this questionnaire. Most of the participants were Saudi (94.7%). Ten out of 38 women (26.3%) had used medications during pregnancy (pain medications and herbal drugs), 4 out of 38 (10.5%) had been exposed to imaging radiation, while 9 (23.7%) had experienced moderate to high grade fever (39-41°C) during pregnancy. Moreover, the majority (86.8%) of these women did not receive folic acid (FA) before pregnancy, and 42.1% of them did not have FA during their first trimester. Only one (2.6%) gave positive family history of SB while, 6 (15.8%) reported having other SB children.  Conclusion: There is a considerably low level of awareness in mothers of SB patients despite prevalence of this anomaly in the Eastern province. This necessitates an effort from health care providers to educate the community about this birth defect entity. Furthermore, genetic counseling should be encouraged especially in those who have a positive familial history for better understanding. Also, larger sample size with randomized controlled trials and larger epidemiological studies should be implemented.

Study Design: Cross-sectional study., Objective: To compare the prevalence of lumbar spondylolysis and spina bifida occulta (SBO) in pediatric and adult populations., Summary of Background Data: The prevalence of spondylolysis reported from radiograph-based studies in children had been questioned in computed tomography (CT)-based studies in adults; however, a recent CT-based study in pediatric patients has confirmed the previously reported data in pediatric populations. SBO, which has been associated with spondylolysis, has demonstrated a decreasing prevalence with increasing age during childhood and adolescence. No studies have compared the prevalence of spondylolysis and SBO in pediatric and adult patients using CT as a screening method., Methods: We studied 228 pediatric patients (4-15 y old) and 235 adults (30-45 y old) who underwent abdominal and pelvic CT scans for reasons not related to the spine. The entire lumbosacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis and SBO in pediatric patients and adults., Results: The prevalence of spondylolysis in pediatric patients was 3.5% (1.1%-5.9%), and in adults, it was 3.8% (1.7%-6.8%), P=1. The prevalence of SBO in pediatric subjects was 41.2% (34.8%-59.2%) and dropped to 7.7% (4.3%-11.5%) in adults, P<0.01. The male prevalence of SBO in pediatric patients was 51.4%, whereas it was 32.2% in females (P<0.01); this sex difference was not significant in the adult population (P=0.8)., Conclusions: The prevalence of lumbar spondylolysis remained constant from pediatric age through adulthood. The prevalence of SBO decreased from 41.2% in children to 7.7% in adults; this finding suggests that closure of the vertebral arch may not be completed in early childhood in a large percentage of subjects.

Purpose: The prevalence of spondylolysis reported from radiograph-based studies has been questioned in recent computed tomography (CT)-based studies in adults; however, no new data are available in pediatric patients. Spina bifida occulta (SBO), which has been associated to spondylolysis, may be increasing its prevalence, according to recent studies in adults in the last decades, but without new data in pediatric patients. We aimed to determine the prevalence of spondylolysis and SBO in pediatric patients using abdomen and pelvis CT as a screening tool., Methods: We studied 228 patients 4-15 years old (107 males), who were evaluated with abdomen and pelvis CT scans for reasons not related to the spine. The entire lumbo-sacral spine was evaluated to detect the presence of spondylolysis and SBO. We compared the prevalence of spondylolysis in patients with and without SBO. A logistic regression analysis was performed to determine the effect of age and sex as independent predictors of spondylolysis and SBO., Results: The prevalence of spondylolysis was 3.5 % (1.1-5.9 %); 2/8 patients presented with olisthesis, both with grade I slip. The prevalence of SBO was 41.2 % (34.8-59.2 %) (94 patients). Spondylolysis was not more frequent in patients with SBO than in patients without SBO. Male sex and decreasing age independently predicted the presence of SBO, but not of spondylolysis., Conclusion: We observed a 3.5 % prevalence of spondylolysis and a 41.2 % prevalence of SBO. SBO was significantly more frequent in males and younger patients.

Objective: Previous reports have suggested that the incidence of spina bifida occulta in patients with nocturnal enuresis is higher than in the general population. However, the effect of spina bifida occulta on the response to nocturnal enuresis treatment is controversial. The purpose of this study was to investigate the relationship between spina bifida occulta and response to treatment of nocturnal enuresis., Methods: Between 2006 and 2009, the records of 160 children with nocturnal enuresis were reviewed. Children with other organic urological disease or symptoms suggestive of spinal dysraphism were excluded. Plain radiography for the kidney-ureter-bladder was carried out before the start of the nocturnal enuresis treatment. Response to treatment of children with and without spina bifida occulta was compared., Results: Of 160 children, 53 were girls; the mean age was 7.8 ± 2.06 years. The mean duration of treatment was 8.7 ± 9.29 months. Spina bifida occulta was detected in 43 children (26.9%). Spina bifida occulta affected L4 in four children, L5 in 12 children, S1 in 26 children and S2 in one child. There was a significant difference between the spina bifida occulta and non-spina bifida occulta groups in terms of outcome (P=0.002), with a complete response more likely in children without spina bifida occulta (P=0.005). None of the children with primary non-mono symptomatic nocturnal enuresis and spina bifida occulta showed a complete response., Conclusions: The presence of spina bifida occulta significantly affects the response to treatment in patients with nocturnal enuresis. Thus, verifying spina bifida occulta in this patient population can facilitate the prediction of the response to nocturnal enuresis treatment., (© 2013 The Japanese Urological Association.)

Background/aims: We aimed to investigate the relationship between corpus callosum dysgenesis (CCD) and associated asymptomatic closed spinal dysraphisms (CSDs)., Methods: 2,840 pediatric patients who were referred to our outpatient clinic between the years 2005 and 2013 with the diagnosis of microcephaly, macrocephaly, congenital hydrocephaly, epilepsy, mental-motor retardation and suspicion of intracranial mass were evaluated. Eighty-five patients were identified with a CCD by cranial magnetic resonance imaging (MRI). The 85 patients with CCD were evaluated by whole spinal vertebral MRI for possible CSD and the results were evaluated., Results: 31/85 (36.4%) patients (20 males, 11 females) were detected to have radiological findings of CSD. The most common radiological finding was a low-lying conus medullaris, either alone, or as part of a multiple pathology in 26 of the 31 patients, followed by diastematomyelia in 16 of 31 cases and spinal lipoma in 4 of the 31 cases., Conclusion: When the neuroaxis emerges as a whole, the structures of embryological ectodermal origin and cranial and spinal structures are not independent regions from each other and thus, asymptomatic CSDs have been demonstrated to accompany CCD. In diseases of neural origin in which early diagnosis is of the utmost importance, each case with dysgenesis, diagnosed incidentally or during differential diagnosis, should be evaluated for possible CSD and should be treated with a multidisciplinary approach before any neurological deficit appears., (© 2013 S. Karger AG, Basel.)

Previous studies on the prevalence of spina bifida occulta have indicated a microevolutionary increase in its frequency and possible population differences in the prevalence of the condition. We studied the frequencies of closed and open sacral canals at each sacral level among two birth cohorts in Switzerland. Transverse CT scans and multiplanar reconstruction images of sacra of 95 males and 96 females born in 1940-1950 and 99 males and 94 females born in 1970-1980 in Switzerland were reviewed. We found that individuals born later have significantly more open sacral arches at all sacral levels compared to those born 30-40 years earlier. When results were related to previously published data on Australian cohorts, the trend was the same, but Swiss in both cohorts were less likely to have an open section than Australians at all locations apart from S2. This study confirmed a microevolutionary trend in the opening of sacral canal among two different generations in Switzerland and demonstrated a population difference in the prevalence of spina bifida occulta.

Purpose: The latex allergy is known as a very frequent problem of children with spina bifida (SB). The aim of this prospective study is to determine the frequency of latex sensitization and allergy in Turkish children with SB and to evaluate the related risk factors., Methods: We enrolled a total of 175 children and collected them in four groups of patients: children with SB, children who had neurosurgical disorders other than SB, atopic children with allergic diseases, and healthy children as control group. All cases were evaluated for latex sensitivity and allergy with skin prick tests and specific IgE. The diagnosis of latex allergy was confirmed with the latex provocation test., Results: Ten children with SB, two children with other neurological disorders, and three atopic children with allergic disease were found "sensitized to latex". Among these sensitized children, only one child with SB had latex allergy. Multivariate logistic regression analysis of the children with SB and other neurologic disorders and the whole group of patients showed that skin test positivity, the presence of noncentral nervous system (CNS) surgery, and the number of the operations were significant risk factors for latex sensitization., Conclusions: Our study showed that rates of latex sensitivity and allergy in children with SB in Turkey are significantly lower than published rates in literature. We also found that atopy, the presence of non-CNS operations in children with SB and other neurologic disorder, and total number of operations in the whole group of patients are the most important risk factors for latex sensitization.

Objective: Spinal dermal sinus tract (DST) is a rare entity which usually comes to clinical attention by cutaneous abnormalities, neurologic deficit, and/or infection. We performed this study to assess presentation patterns, associated anomalies, radiologic, urologic, and surgical findings in children afflicted with spinal DST., Methods: Medical records of 35 children treated for spinal DST in Children's Medical Center from January 2001 to December 2008 were reviewed., Results: Patients' age ranged from 3 days to 8.44 years. Dermal sinuses were located most frequently in the lumbar and lumbosacral regions. The most common causes for referral were abnormal skin findings (57.1%) and infection (31.4%). Notably eight patients presented with meningitis. The overall rate of neurologic abnormalities was 37.1%, four of whom presented acutely with rapidly progressive paraplegia and meningitis. The most common magnetic resonance imaging finding was tethered cord (63%). At least one urological evaluation was performed in 30 patients, which revealed abnormal results in 77% of them. All patients underwent complete resection of the tract and repair of associated abnormalities. Most tracts terminated within the intradural space. Fifteen patients (42.8%) had inclusion tumor with the dermoid tumor being the most common. None of the patients demonstrated neurological deterioration postoperatively., Conclusion: Dermal sinus tract is an innocuous-appearing spinal dysraphism that may contribute to devastating morbidities if not timely addressed. In order to prevent complications, timely surgical intervention including complete resection of sinus tract with intradural exploration and correction of associated abnormalities is of utmost importance.

Although several morphological variations of sacrum have been reported in western populations, little attention has been paid to this anatomic issue in eastern people, and classification of sacral variability in particular. In this research of sacral morphology in Chinese people, we investigated and measured thoroughly and systematically 203 specimens of intact dry Chinese adult sacra. Morphological features of sacral variations were observed by visual inspection, and correlation parameters of variability were measured with a vernier caliper. The incidence of sacral variations was calculated. We found that the overall rate of sacral variations was 58.1% (male: 57.4%; female: 59.5%). The anatomical variants that we observed fell into the following five categories: accessory auricular surface (25 specimens, 12.3%); sacral skewness (48 specimens, 23.6%); transitional vertebra (34 specimens, 16.7%); sacral spina bifida occulta (57 specimens, 28.1%), Degrees I, II, and III of which were 36, 14, and 7 specimens, respectively; multiple variations (42 specimens, 20.7%), the types of which were diversified. This study reveals that sacral variations are common in Chinese population. The sacral variants in anatomic morphology should be taken into consideration when diagnosing and treating sacrum-related diseases., (Copyright 2009 Wiley-Liss, Inc.)

Study Design: An anatomic, osteologic study of spina bifida occulta (SBO)., Objective: To determine the prevalence and patterns of SBO in a large population and examine its relationship to age, sex, and race; then to evaluate SBOs relationship to the sacral table angle (STA) when compared with an age-matched control group., Summary of Background Data: SBO has a reported prevalence of 1.2% to 50% and has been implicated in various pathologic problems. SBO is often associated with spondylolysis or spondylolithesis. The STA has been implicated as an etiologic or predictive factor in the presence of pars defects., Methods: Three thousand one hundred osteologic specimens were evaluated for the presence of SBO. SBO was graded on a scale from 0 to III. Information on the age, sex, race, and STA of each specimen was recorded and measured, respectively. Prevalence and patterns of SBO were enumerated. The STAs of an age-matched control group of 355 specimens were examined. The SBO group and control groups were compared in regards to STA, controlling for age, sex, and race., Results: Overall, 355 specimens displayed SBO, for an overall prevalence of 12.4%. Of the SBO specimens, 68.7% were white, 88.2% were men, 53% were grade I, 37% II, and 10% III. All 3 grades of SBO were more common in men than women (88.2% vs. 11.8%) and more prevalent in whites than blacks (68.7% vs. 31.3%) (P = 0.01). SBO decreased in prevalence with increasing age. The average STA in SBO specimens was 95.9 degrees . This differed from an age-matched control group, 92.1 degrees (P < 0.0001). Every 1 degrees increase in STA resulted in a 6% increased likelihood of SBO. In SBO specimens, the STA decreased with increasing age, contrary to age-matched controls., Conclusion: SBO has an overall prevalence of 12.4% in a large, diverse population. SBO is more common in men and whites and decreases in prevalence with increasing age. The STA is greater in SBO when compared with controls and an increased STA predicts SBO. In SBO, the STA decreases with increasing age.

Study Design: Computer tomography scans were used to asses the opening of the sacral canal., Objective: We investigated the prevalence of sacral spina bifida occulta in 2 population groups: born 1940 to 1950 and 1980 to 1990., Summary of Background Data: Comparison of the prevalence of spina bifida occulta in the first-century Pompeii with that in 20th century European and Mediterranean populations indicates that the degree of the closure of vertebral arches in the sacrum has undergone changes and the prevalence of spina bifida occulta is increasing., Methods: Transverse computer tomograph scans and multiplanar reconstruction images of sacra of 100 males and 100 females born 1940 to 1950 and 100 males and 100 females born 1980 to 1990 were used after ethics committee approval., Results: The individuals born later have significantly more open sacral arches when compared with those born 40 years earlier, especially in the midsacral region. Also, males have open sacral arches in the rostral segments of the sacrum more than females., Conclusion: This study demonstrates a secular trend in the opening of the sacral canal in both sexes that occurred within 2 generations. Also, the increased prevalence of open sacral canal in males suggests a different response between sexes to the forces of evolution.

Background/purpose: The long-term urologic outcome in a large series of patients with neural tube defects was evaluated., Methods: The following clinical parameters in 398 patients ranging from 1 to 37 years of age--69 with caudal regression syndrome (CRS), 244 with meningomyelocele (MMC), and 85 with spinal lipoma (SL)--were studied: congenital renal anomalies, renal function, vesico-ureteric reflux, upper tract dilatation, urodynamic pattern, and urinary continence., Results: Single kidney was much more frequent in CRS (20.3%), compared with MMC (1.2%) and SL (0%). Vesico-ureteric reflux was found in 37.7% of patients with CRS, 43.0% of MMC, and 21.2% of SL. Patients with CRS had a higher risk of impaired renal function (8.7%), compared with MMC (5.3%) and SL (1.2%). Neuropathic bladder was found in 61% of patients with CRS, 98% of MMC, and 42% of SL. Among them, clean intermittent catheterization and drugs allowed 30% of patients with CRS, 45% of MMC, and 71% of SL to be dry for more than 4 hours., Conclusions: Diagnosis influences the urologic outcome in neural tube defect. In CRS, the incidence of renal agenesis and vesico-ureteric reflux was unexpectedly high. The risk of renal damage and, in those with neuropathic bladder, of urinary incontinence, was similar to patients with MMC.

Objective: This study was designed to examine attention processes and executive functioning in adolescents with spina bifida, and to explore whether impairment in these domains contributes to problems with social adjustment., Methods: A sample of adolescents with spina bifida (n = 68) and a matched comparison group (n = 68) and their families were followed longitudinally. All participants completed questionnaires, and the adolescent participants underwent neurocognitive testing., Results: The spina bifida sample showed greater impairment on objective and subjective measures of attention and executive functioning, even when differences in intellectual functioning were controlled. Additionally, attention and executive deficits were found to be predictive of social adjustment difficulties. A mediational analysis suggested the neurocognitive deficits mediate associations between spina bifida status and social adjustment difficulties., Conclusions: Adolescents with spina bifida appear to exhibit clear impairment in attention and executive functioning and this impairment may contribute to their well-established social difficulties.

Spina bifida occulta of the sacrum is the most common type of spinal deformity. Many authors have published data on the frequency of spina bifida occulta, with varying results. Some possible reasons for this variability could include the differing methods used to gather data and differing ways of classifying the condition. This study attempts to develop an X-ray method to study sacral spina bifida occulta in a standardized fashion, using an angulated antero-posterior technique. This technique is then used to estimate the frequency of sacral spina bifida occulta in an Australian sample. The sacra of 53 cadavers were X-rayed and the level of closure of the sacral spinal canal recorded. The X-ray technique was validated by open dissection of six of the cadavers studied and was shown to be accurate to half a sacral segment. No sacra with a completely open sacral canal were found, two sacra (4%) were open from S2 down to S5 and ten sacra (19%) were open from S3 down to S5. The most common condition (43%) recorded was where S4 and S5 only were open. Eighteen cadavers (34%) showed only S5 open, and interestingly, no sacra were recorded as having the dorsal sacral arch completely closed. A study of a larger sample will follow using the validated X-ray technique.

As currently defined, it is not clear whether Nonverbal Learning Disabilities (NLD) should be considered a matter of kind or magnitude (Meehl, 1995). The taxonicity of NLD, or the degree to which it is best construed as discrete versus continuous, has not been investigated using methods devised for this purpose. Latent Class Analysis (LCA) is a method for finding subtypes of latent classes from multivariate categorical data. This study represents an application of LCA on a sample of children and adolescents with spina bifida myelomeningocele (SBM) (N = 44), those presenting with features of NLD (N = 28) but no medical condition, and control volunteers (N = 44). The two-class solution provided evidence for the presence of a taxon with an estimated base-rate in the SBM group of .57. Indicator validities (the conditional probabilities of indicator endorsement in each latent class) suggest a somewhat different priority for defining NLD than is typically used by researchers investigating this disorder. A high degree of correspondence between LCA classifications and those based on a more conventional algorithm provided evidence for the validity of this approach.

The prevalence of spondylolysis and spondylolisthesis was studied in an adult skeletal series from a rural English medieval archaeological site. Attempts were made to evaluate the association of three aspects of lumbo-sacral skeletal morphology (pelvic incidence (a measure of the anterior inclination of the sacral table), lumbar transverse process width, and the presence of lumbo-sacral spina bifida occulta) with spondylolysis and spondylolisthesis. Results indicated a high prevalence of spondylolysis compared with a modern reference population, but few cases of spondylolisthesis were identified. Analysis of prevalence with respect to age suggests that in the study population, pars interarticularis defects generally formed late in the growth period or early in adult life. The study group showed a high mean pelvic incidence compared with modern Western Europeans, indicating a more steeply inclined sacral table, which may have elevated the risk of developing pars interarticularis defects. However, no statistically valid association could be demonstrated between the presence/absence of spondylolysis and pelvic incidence in the study material. There was no evidence for a link between lumbar transverse process index or lumbo-sacral spina bifida occulta and spondylolysis/spondylolisthesis. It is concluded that the potential role of lumbo-sacral morphology, as well as of activity regimes, should be considered when interpreting spondylolysis in paleopathological studies. If the frequency of spondylolysis is to some extent an indicator of past activity regimes, it may reflect lifestyle in younger individuals rather than in mature adults. Further work investigating the link between spondylolysis and lumbo-sacral morphological variables in premodern populations would be of value., ((c) 2006 Wiley-Liss, Inc.)

Background: We examined the possible association between infertility and spinal neural tube defects (NTDs)., Methods: This is a nested case-control study within the Kaiser Permanente Medical Care Program (KPMCP) in Northern California. Among a birth cohort of 110,624 singleton infants > or = 36 weeks gestation, 1994-1997, we electronically identified cases of spinal NTDs and confirmed the diagnosis by chart review. Controls (n = 1,608) were randomly selected from the birth population. History of infertility was defined as: (1) physician diagnosis of infertility; (2) prescription for an infertility medication noted in the KPMCP pharmacy; and/or (3) evaluation at 1 of 15 infertility clinics in Northern California., Results: Eighteen infants diagnosed with spinal NTDs (prevalence 1.6/10,000) included 13 with spina bifida cystica and 5 with spina bifida occulta. Case mothers were more likely to have a history of infertility (4/18 vs. 96/1,608, OR 4.3, 95% CI 1.01-14.0), and to have been prescribed clomiphene citrate within the window spanning 60 days before to 15 days after conception (3/18 vs. 32/1,608, OR 11.7, 95% CI 2.0-44.8)., Conclusion: This exploratory study suggests that infertility may be associated with an increased risk of spinal NTDs among liveborn, term infants., ((c) 2006 Wiley-Liss, Inc.)

Object: Tethered cord syndrome (TCS) is associated with a number of congenital anomalies involving early development of the spinal cord. These include myelomeningocele, spinal cord lipoma, low-lying conus medullaris, and a fibrofatty terminal filum. Occult TCS occurs in patients when clinical features indicate a TCS but the typical anatomical abnormalities are lacking. It is controversial whether surgical release of the terminal filum leads to clinical improvement in a patient who does not have a previously identified anatomical abnormality. To assess the clinical standard used by practicing pediatric neurosurgeons, a practice survey was conducted at the 2004 Annual Meeting of the Joint Section for Pediatric Neurological Surgery of the American Association of Neurological Surgeons/Congress of Neurological Surgeons., Methods: The survey examined clinical decision making for a same-case scenario with differing appearance on imaging studies. There was a clear consensus regarding diagnosis and treatment in the patient with symptoms, a low-lying conus medullaris, and a fatty terminal filum. The vast majority of respondents (85%) favored surgical untethering for this patient. A majority of respondents (67%) also favored treatment for the patient having symptoms and a fatty terminal filum. There was, however, significant disagreement regarding the diagnosis and treatment of disease in one patient with symptoms and an inconclusive magnetic resonance imaging study. Some respondents clearly favored surgery, whereas others believed that this patient did not meet the diagnostic criteria for TCS., Conclusions: The results of this survey support the development of a randomized clinical trial to address the benefit of surgery for occult TCS.

The management of adult-onset tethered cord syndrome (TCA) remains controversial, although the necessity of early surgery in children with TCS is well established. In this paper, we review the major publications that discuss the congenital tethered spinal cord (spina bifida occulta) presenting in adulthood. Data concerning acquired tethered cord from prior myelomeningocele repair were excluded. TCS in adults is an uncommon entity that can become symptomatic. The long-term surgical outcome after tethered cord release in this patient population is generally favorable, as most patients report improvement or stabilization of their symptoms. In addition, the overall post-operative complication rate is low. Although special consideration should be given to older patients with a poor general medical condition, it seems reasonable to recommend early surgical treatment in both symptomatic and asymptomatic adults.

Object: Historically, cutaneous stigmata representative of occult spinal dysraphism (OSD) have included lumbar hemangiomas. Frequently, this skin change is found in conjunction with other cutaneous alterations such as dermal sinus tracts and subcutaneous lipomas. Debate has recently surrounded the question of whether these skin changes in isolation might indicate underlying spinal disease. The authors reviewed their experience in their most recent 120 cases in which OSD was diagnosed., Methods: The authors retrospectively reviewed records obtained in 120 patients with OSD. They found that many of the patients reviewed harbored only a flat capillary hemangioma as an indicator of OSD. In 21 patients (17.5%) with only midline lumbosacral flat capillary hemangiomas, underlying OSD was present. No single variety of OSD had a higher incidence of association with this single cutaneous stigma., Conclusions: Based on their experience, the authors recommend magnetic resonance (MR) imaging evaluation in cases involving this skin lesion in isolation to discern the potential for surgically significant spinal cord anomalies. Prospective studies are now needed to examine MR images obtained in all children with this lesion in the midline lumbosacral spine and assess for OSD.

Background/purpose: Previous clinical practice has included evaluation for the presence of tethered cord in those children who have imperforate anus with a high lesion. To define the incidence in children with low lesions, the authors reviewed their experience with a protocol employing routine magnetic resonance imaging (MRI), regardless of the level of the lesion, to determine the presence of a tethered cord in all children with imperforate anus., Methods: A retrospective review of children with imperforate anus was conducted over the last 13 years at our institution. Lesions were categorized as high versus low based on the supralevator or infralevator position of the fistula., Results: Sixty-three patients completed evaluation for a tethered cord. Twenty-two (34.9%) of these 63 patients had a tethered cord: 11 of 41 (26.8%) patients with high lesions and 11 of 22 (50.0%) of those with low lesions. Of those children with a low lesion, 83% of the boys had a tethered cord, whereas 38% of the girls had a tethered cord. Forty-five percent of the patients with low lesions and a tethered cord did not have any other lumbosacral anomalies. All 22 children with a tethered cord underwent surgical release., Conclusions: The incidence of tethered cord in children with low lesions of imperforate anus is not lower than those with high lesions. The authors advocate early evaluation of all children with imperforate anus for a tethered cord., (Copyright 2002, Elsevier Science (USA). All rights reserved.)

Object: The purpose of this study was to highlight the key prenatal diagnostic features of fetal spinal lipomas., Methods and Results: All fetuses in whom a spinal lipoma was suspected prenatally or diagnosed postnatally were included in the study. Lumbosacral lipoma was diagnosed in 16 fetuses (group 1), but at birth 3 of these were found to have other forms of occult dysraphism. In 2 other fetuses (group 2) a meningocele was suspected but at birth these lesions were found to be lumbosacral lipomas. The lipomas were covering large meningoceles in 13 fetuses and filling the cul-de-sac in 2 others. Three sets of parents decided on termination. Of the 13 children born with a spinal lipoma, 9 were operated on and 4 were managed conservatively. At the last follow-up, 7 were neurologically intact., Conclusion: The distinction between meningomyelocele and spinal lipoma is possible antenatally. The differential diagnosis between lipoma and the other forms of occult dysraphism is more difficult.

Background: Open spina bifida is the most complex congenital abnormality compatible with long-term survival. This report outlines the 20- to 25-year outcome for our original cohort of patients with a myelomeningocele treated in a nonselective, prospective manner., Methods: Of the initial 118 children, 71 patients were available for our most recent review. Nineteen patients have been lost to follow-up and 28 patients have died. Data were collected on: motor level, shunt status, education/employment, seizure history, mobility, bladder/bowel continence, tethered cord, scoliosis, latex allergy, posterior cervical decompression, tracheostomy and/or gastrostomy tube., Results: Mortality (24%) continues to climb into young adulthood. Eighty-six percent of the cohort have cerebrospinal fluid diversion, with 95% having undergone at least one shunt revision. Thirty-two percent have undergone a tethered cord release, with 97% having an improvement or stabilization in their preoperative symptoms. Forty-nine percent have scoliosis, with 43% eventually requiring a spinal fusion. Sixteen patients (23%) have had at least one seizure. Eighty-five percent are attending or have graduated from high school and/or college. More than 80% of young adults have social bladder continence. Approximately 1/3 of patients are allergic to latex, with 6 patients having experienced a life-threatening reaction., Conclusion: At least 75% of children born with a myelomeningocele can be expected to reach their early adult years. Late deterioration is common. One of the greatest challenges in medicine today is establishing a network of care for these adults with spina bifida., (Copyright 2001 S. Karger AG, Basel)

Objectives: To determine the incidence of cleft lip, cleft palate, spina bifida and hydrocephalus; and to compare these with those of Asian and European subjects., Design: A retrospective study., Setting: The Queen Elizabeth Central Hospital (QECH) in Blantyre, Malawi., Subjects: Delivery and nursery records compiled between January 1998 and December 1999 were studied., Main Outcome Measures: To measure the incidence of cleft lip, cleft palate, spina bifida and hydrocephalus., Results: Of the total 25562 births, 39 (0.2%) had defects; eight boys and 31 girls. Clefts (all types) comprised the largest group, 43.6%, with an incidence of 0.67/1 000; spina bifida, 30.8% with an incidence of 0.47/1000; hydrocephalus, 15.4%, and an incidence of 0.23/1000; and spina bifida with hydrocephalus, 10.3%, with 0.16/1000 incidence. The respective mean (SD) birth weights for clefts (all types), spina bifida, hydrocephalus and spina bifida with hydrocephalus were 2806.47 (569.07) g, 2650.00 (360.55) g 2610.00 (720.97) g and 3362.50 (696.87) g respectively., Conclusion: Our findings show a higher incidence of spina bifida in Malawians than in Caucasians and Orientals, but the incidence was lower than Omani subjects. The incidence of clefts and hydrocephalus in black Malawians, however, was lower than previously reported in other population groups, and hydrocephalus probably showed the lowest incidence among blacks in the continent. Furthermore, congenital malformations affected more girls than boys 4:1, but the infants had normal birth weight.

This paper describes the epidemiology of tethered cord syndrome and its etiologies and co-morbidities following initial repair of both meningomyeloceles and lipomeningomyelocele. A review of the pertinent literature and data from 654 cases of meningomyelocele and 118 cases of lipomeningomyelocele has been drawn from a computerized database, Patient Data Management System/fx. Only cases born since 1964 were analyzed for the etiologies, co-morbidities, spinal cord abnormalities detected by contrast studies or MRI and for significant symptoms and signs. Tethered cord symptoms were related to an attachment to a rigid tether for all 31 cases following lipomeningomyelocele repair but 62 (75%) of the 83 post meningomyelocele repair patients developed the symptoms of tethered cord. Causes other than, or in addition to, tethering included an obstructed cerebrospinal fluid shunt, syringohydromyelia, benign tumor and spinal cord hypoplasia. Quantitative differentiation between asymptomatic thin spinal cords and symptomatic spinal cord hypoplasia as well as between central canal enlargement and symptomatic syringohydromyelia could not be demonstrated. Collaborative, multi-center studies of larger numbers of patients are recommended.

The aims of this study were to find the prevalence of tethered cord in patients with anorectal malformations; to determine if the presence of tethered cord relates to the severity of the anorectal defect, and to certain symptoms, signs, radiologic findings, and associated anomalies; and finally to determine whether tethered cord impacted on a patient's functional prognosis and whether surgical untethering improved the patient. The authors studied 934 patients with anorectal malformations, 111 of whom had magnetic resonance imaging (MRI) of the spine. We compared patients with and without tethered cord by using parametric and nonparametric statistical tests. Tethered cord occurred in 24% of the patients. The prevalence varied according to the type of anorectal defect from 43% in the complex group to 11% in patients with rectovestibular fistula. Patients with tethered cord had a lateral sacral ratio lower than that of patients without tethered cord (0.410 versus 0.702). Tethered cord was present in 90% of patients with myelodysplasia, 60% of patients with a presacral mass, 57% of patients with sacral hemivertebrae, and 56% of patients with a single kidney. The greater number of associated anomalies a patient had, the greater the risk of having tethered cord (P < .05 for all differences). The authors noted differences between patients with and without tethered cord in the presence of voluntary bowel movements (46% versus 70%), fecal soiling (91% versus 63%), constipation (21% versus 43%), and urinary incontinence (86% versus 42%). The data indicate that patients with tethered cord have a worse functional prognosis than patients without tethered cord. However, the incontinence in our patients was also predictable based on the type of anorectal defect and the character of the sacrum irrespective of the presence of tethered cord. Eighteen patients underwent surgical untethering of the cord, and none had any significant change in bowel or urinary function postoperatively. No patient with tethered cord experienced incontinence that could be attributed to the cord defect alone. This study suggests that tethered cord occurs more frequently in patients with severe anorectal defects, sacral hypodevelopment, myelodysplasia, presacral mass, sacral hemivertebrae, or a single kidney, or in those with an anorectal defect with poor functional prognosis. At present no solid evidence supports the concept that tethered cord by itself affects the functional prognosis of patients with anorectal malformations. Also, there is no good evidence demonstrating that surgical untethering improves the prognosis.

Purpose: To evaluate in children and infants with imperforate anus the prevalence and types of occult myelodysplasia that may result in tethered cord and the association of these lesions with vertebral anomalies., Materials and Methods: Records and images were retrospectively reviewed in 86 patients who underwent spine magnetic resonance imaging and had either low-level imperforate anus (n = 30), intermediate-level imperforate anus (n = 15), or high-level imperforate anus (n = 41)., Results: Thirty-one of 86 patients (36%) had occult myelodysplasia suggestive of tethered cord (27% of all patients with low-, 33% of all patients with intermediate-, and 44% of all patients with high-level lesions). Of these 31 patients, 16(52%) were asymptomatic, 24, (77%) had a thickened fatty filum, 13 (42%) had normal conus position, and 23 (74%) had vertebral anomalies. Twenty-four of the 31 patients (77%) underwent surgical untethering., Conclusion: A substantial number of patients with all types of imperforate anus have occult myelodysplasia that may necessitate surgical intervention, including those patients with normal spine radiographs.

Objectives: Evaluation of the incidence of urological abnormalities as revealed by urological examinations of a large number of patients with enuresis., Methods: Patients with the chief complaint of nocturnal enuresis were examined urologically., Results: The incidence of urological abnormalities was 1.8% of 940 patients on intravenous pyelography (IVP), 7.1% of 695 patients on voiding cystourethrography (VCG) and 11.5% of 487 patients on cystometry (CM). No abnormal findings were observed in 58 patients on renal ultrasonography (US). 92.1% of reflux cases detected by VCG were low grade and only 8.9% of patients with reflux had pyuria. 20.2% of 446 patients who were submitted to all these examinations had some urological abnormality. Only pollakisuria was statistically more frequent in patients with urological abnormalities than in patients without them., Conclusion: These data suggest that the incidence of urological abnormalities was rather low when compared with the past literature. In particular, IVP was though to be unnecessary.

Spina bifida, a congenital deformity of the posterior wall of vertebrae of the spine, is a midline defect of skin, vertebral arches and neural tube, usually in the lumbosacral region. Its incidence is reported to be 0.2 to 0.4 per 1000 live births. Various hypotheses have been put forward as etiological factors for spina bifida including consumption of potato affected by blight and hardness of drinking water but these have not been proven. Two groups of 50 randomly chosen children were established. The study group consisted of children aged 5 to 12 years, weighing 15 to 30 kg, consuming fluoride rich drinking water (4.5 and 8.5 ppm fluoride; WHO permissible limit is 1.5 ppm fluoride), and manifesting either clinical, dental and/or skeletal fluorosis. The control group consisted of age and weight-matched children, consuming less than or equal to 1.5 ppm fluoride in drinking water and not showing any evidence of fluoride toxicity. These children were evaluated for antenatal history, general clinical examination (especially for dimples, tufts of hair, haemangioma on skin throughout the length of spine), other congenital abnormalities, evidence of fluoride toxicity, biochemical estimation for fluoride levels in blood and serum and by skiagrams of the spine to examine for the presence of spina bifida occulta. A total of 22 (44%) of the 50 children in group A, the study group, and 6 (12%) of the 50 children in group B, the control group, revealed spina bifida occulta in the lumbosacral region.(ABSTRACT TRUNCATED AT 250 WORDS)

The urological malformations associated with anorectal anomalies (ARA) are not only anatomical, but also functional, the latter being related to congenital neurovesical dysfunction (NVD). The true incidence of spinal dysraphism (SD) in these children is still unclear and is probably underestimated. The concept of caudal regression could explain its association with the anorectal anomalies. Because of awareness of the late onset of neurovesical dysfunction and/or orthopaedic symptoms in some of our patients, in 1991 we started to screen with magnetic resonance imaging (MRI) the spinal cord of all patients with ARA. Eighteen (44%) out of 41 patients without neurological or orthopaedic symptoms and 7 (78%) of 9 children with neurological or orthopaedics symptoms screened by MRI showed pathological findings. The overall incidence of spinal dysraphism in ARA was 50%, without any great difference with respect to the type of the anomaly (high, low, cloacal). The pathological MRI findings encountered were: fibrolipoma (with or without a thickened filum terminale), tethering of the cord and syringomyelia, and sac anomalies. In order to check the onset of NVD in these children, we performed urodynamic studies with external sphincter electromyography in 24. Grouped by age: 14 were between 5 and 18 months and ten were 4 to 13 years old. Ten patients (71%) out of the first group and 3 (30%) out of the second had a normal urodynamic pattern. A total of 11 children had pathological findings; of these, 4 infants had a hyperreflexic bladder (one with detrusor-sphincter dyssynergia) suggesting upper motor neuron (UMN) lesion. Of the 7 older patients, two had UMN and 3 lower motor neuron (LMN) lesion.(ABSTRACT TRUNCATED AT 250 WORDS)

Terminal syringohydromyelia is a cystic dilatation of the lower third of the spinal cord. The authors describe its incidence and characteristics, its frequent association with occult spinal dysraphism, and its clinical significance and need for surgical treatment. All 143 cases of occult spinal dysraphism treated at the Duke University Medical Center between 1972 and 1992 were reviewed. A terminal syrinx was found in 24 (27%) of the 90 cases that were evaluated by magnetic resonance (MR) imaging. In contrast three (6.2%) of 48 cases evaluated by myelography and postmyelographic computerized tomography had a syrinx documented. The relative radiographic severity of the different syringes was estimated by using measurements of the syrinx and spinal cord on the MR images, classifying the cysts into large and small. Large syringes were frequently symptomatic, commonly presenting with pain, motor and sensory deficits of the lower extremities, scoliosis, and bowel and bladder dysfunction. Terminal syringohydromyelia with occult spinal dysraphic lesions was most often associated with tethered spinal cord from a tight filum terminale in the presence of an anorectal anomaly (67% of cases), meningocele manqué (54%), and diastematomyelia (38%). An infrequent association was seen with other spinal cord anomalies. The results of surgical management of terminal syringohydromyelia were analyzed, highlighting the necessity and effectiveness of shunting the large cysts, especially in the setting of a progressive symptomatology. Of the 11 patients with shunts who underwent MR imaging, 10 showed either complete or significant resolution of the syrinx; all five patients who had presented with pain (mainly back pain) showed complete resolution of the pain after shunting; finally, one-third of patients with shunt placement had significant postoperative improvement in their neurological examination, whereas none worsened. It is stressed that terminal syringohydromyelia is an important pathological entity that should be considered in patients with occult spinal dysraphism, and treated surgically when clinically or radiographically significant.

Objective: Diastematomyelia is a form of spinal dysraphia involving a sagittal cleft in the spinal cord with splaying of the posterior spinal elements. This may be an isolated abnormality or in association with more serious dysraphic conditions. In isolated diastematomyelia, the skin is intact and the prognosis excellent. This study aimed to determine the usefulness of prenatal sonography in diagnosing diastematomyelia and in predicting the isolated form., Subjects and Methods: The usefulness of the sonographic findings of an extra posterior echogenic focus between the fetal spinal laminae and splaying of the posterior elements for the prenatal sonographic diagnosis of diastematomyelia was assessed in five cases prospectively and in one case retrospectively. The posterior echogenic focus was first seen on prenatal sonograms at a mean age of 19 weeks' gestation (range, 18-20 weeks). The final diagnosis of diastematomyelia was made at autopsy in two cases (one with an associated meningocele), at postmortem radiography in one, at surgery in one, and at CT myelography in two. Postnatal spinal sonograms were obtained in each case. The ability to detect fetal spinal widening on prenatal sonograms was compared with the postnatal radiologic appearance on spinal plain film radiographs., Results: Diastematomyelia was confirmed in all five cases where the extra posterior echogenic focus was seen at prenatal sonography. The double spinal cord was within a single dural sheath in three cases, with no bony bar present. A double dural sheath with a bony bar was noted in a fourth case. In the fifth case, a bony bar was seen on a postmortem spinal X-ray, but a double dural sheath could not be confirmed because an autopsy was not performed. In the case where diastematomyelia was not suspected on prenatal sonograms, the dural sheath was single and no bony bar was present. Splaying of the posterior elements was seen on postnatal radiographs in all cases but was suspected in only four on prenatal sonograms. Prenatal sonography accurately predicted isolated diastematomyelia in four cases and complicated diastematomyelia in one case. The one case missed prenatally was of isolated diastematomyelia., Conclusion: A diagnosis of diastematomyelia can be made if an extra posterior echogenic focus is seen on prenatal sonography. Splaying of the posterior elements of the fetal spine is frequently present. The pregnancy should be managed differently depending on whether the diastematomyelia is isolated, with the skin intact, or is in association with more serious neural tube defects. This distinction is possible prenatally.

Study Design: Neurenteric cysts are uncommon lesions originating from the primitive foregut that may involve adjacent vertebrae and spinal cord. Little is known regarding the natural history of these cysts and associated spinal deformity in children. Five patients with these cysts managed at the authors' institution from 1955 to 1993 were reviewed., Objectives: The goal of this retrospective review was to determine the natural history of these cysts in children, and to assess the surgical management in each of the five patients., Methods: Medical charts and radiographic records were reviewed and, when possible, the patients were re-evaluated clinically., Results: All patients had significant anterior vertebral defects, and four had severe kyphosis at presentation. Major complications occurred in three of the four patients treated surgically., Conclusions: Iatrogenic complications of surgical management of these cysts can be limited by combined anterior and posterior approaches, providing the most complete exposure and maximal stabilization of the associated deformity.

Study Design: The incidence of pes cavus and scoliosis was studied in three groups of patients. Group A contained 130 patients with idiopathic scoliosis, Group C contained 210 patients with idiopathic pes cavus, and Group B (control) contained 200 patients of similar age., Objectives: To investigate the joint presentation of pes cavus and idiopathic scoliosis, because both deformities may share a common etiology linked to muscle imbalance., Summary of Background Data: Sixty five percent of Group A patients (85 of 130) had an abnormally high plantar arch, compared to only 9.5% (19 of 200) of Group B control subjects. Nine percent (20 of 210) of the patients in Group C had scoliosis curves, compared to only four patients in Group B., Methods: Radiographs were taken to determine the type of scoliosis curve, its location, and its magnitude, and to identify the incidence of spina bifida occulta in the three groups. The incidence and degree of pes cavus were established by means of foot prints. Statistical analyses were performed on all results., Results: A statistically significant relationship (P < 0.01) was found for the incidence of pes cavus between Group A (scoliosis) and Group B (control), and for the incidence of scoliosis between Group C (pes cavus) and Group B (control). No statistical significance was observed for the other relationships investigated (sex, curve location, magnitude, spina bifida)., Conclusions: There was a significant correlation between scoliosis and pes cavus--spina bifida was not an etiologic factor. Therefore, in certain patients where scoliosis and pes cavus present jointly, deformity may be secondary to altered balance or to disorders of the central nervous system.

Neural tube defects (NTD) are known to occur at a higher rate in pregnancies of women with epilepsy. Antiepileptic drugs (AEDs), notably valproate (VPA) and carbamazepine (CBZ), have been identified as risk factors, but a familial aggregation of this condition also occurs in the absence of pharmacologic teratogens. Spina bifida occulta, defined as a nonsymptomatic nonfusion of vertebral arches, has been suggested to be genetically determined, with an increased prevalence in patients with primary generalized epilepsy, and that the presence of this trait in fetal development can be enhanced pharmacologically to produce NTD such as meningomyelocele. In this study, plain abdominal radiographs were obtained from 56 patients with juvenile myoclonic epilepsy (JME) and 56 age- and sex-matched controls. The radiographs were presented in a random order to an unbiased radiologist. No difference in prevalence of vertebral arch nonfusion (VAN) was noted between the two groups. Even if it has no increased frequency in patients with epilepsy, however, VAN is a common radiologic finding, and its relation to symptomatic neural tube defects should be clarified in future studies.

This retrospective review included 133 patients with one or several of the following defects: diastematomyelia, neurenteric cyst, dermal sinus or cyst, meningeal malformation, sacral agenesis, tethering of the spinal cord, and lumbosacral lipoma. Physical evaluation readily identified most lumbosacral lipomas, as well as most cases of diastematomyelia since hypertrichosis over the defect was common. Some patients developed life-threatening clinical manifestations, e.g., meningitis due to a dermal sinus. On the basis of this retrospective review and a review of the literature, the clinical and therapeutic aspects of each defect are discussed.

Purpose: To determine whether meningocele manqué can be detected by neuroimaging techniques in dysraphic patients., Methods: We reviewed the records and imaging studies of 16 patients with surgically proved meningocele manqué seen at our institution between 1989 and 1990. Both CT and MR imaging techniques were used. CT of the spine was performed immediately following contrast myelography., Results: Nine of 16 patients (CT, four; and MR, five) showed evidence of meningocele manqué which corresponded to intraoperative findings. Fourteen of 16 patients were found to have diastematomyelia, eight with medium septum and six without a septum. Associated findings included syrinx (six), lipoma (five), dermoid cyst (one), and neuroenteric cyst (one). After completing this review, we were able to prospectively diagnose dorsal bands in two new patients; these bands were confirmed at surgery., Conclusion: Dorsal bands can be detected in dysraphic patients with CT or MR using operative findings as a road map.

Sixty-one children (below 12 years) with midline dermal inclusions of the cranium and spine were operated on at the Red Cross War Memorial Children's Hospital between 1969-1990. The bregmatic area was the most common position for superficial cysts (33). Eight children had sinuses or cysts near the external occipital protuberance, 2 had isolated fourth ventricular cysts and 1 had a cyst in the quadrigeminal plate cistern. Fifteen children had spinal dermal inclusions, 13 of these were in the lumbosacral area, there was 1 sinus in the cervical spine and another in the midthoracic area attached to an intramedullary cyst. Two children had frontal sinuses, one of which was connected to an interhemispheric dermoid cyst and a lipoma of the corpus callosum. A midline swelling or sinus was the most common clinical presentation. Four out of 15 spinal inclusions and 1/11 occipital sinuses had a meningitic history. Five of 11 of the posterior fossa inclusions had raised intracranial pressure and signs suggestive of cerebellar tumor or abscess. Not one of the 33 bregmatic lesions had any connection to the central nervous system. MRI has proved useful in diagnosing both dermal sinuses and cysts, but CT scanning was our standard investigation. Plain x-ray revealed bony abnormalities in only 60% of our patients with spinal sinuses. We feel that all dermal sinuses or cysts in the midline should be surgically explored after CT or MRI scanning. Lesions mistaken for bregmatic cysts have included hemangiomas (4), hamartomas (2), an encephalocele through the anterior fontanelle (1) and lipomas (2).(ABSTRACT TRUNCATED AT 250 WORDS)

Herein, the diagnosis and management of 14 cases with sacral agenesis experienced in the last 15 years were reviewed. Age at first presentation tended to be older than that of meningomyelocele patients. All the children displayed partial sacral agenesis or hemisacrum. Occult spinal dysraphism was found in 8. Frequent association of genitourinary and anorectal anomalies required important alterations in the management. Vesicoureteral reflux was found in 8 patients but most of them were treated conservatively. Thirteen children underwent urodynamic evaluation on more than 1 occasion and 12 displayed neurogenic bladder dysfunction (upper motor type 6, lower motor type 5, upper and lower type 1). However, the diagnosis of bladder dysfunction was not final. Clean intermittent catheterization was most frequently assigned but it was difficult in some cases with urethral abnormalities. Overall, 5 children required surgical intervention for their urinary tract, 4 of whom needed multiple procedures. As a result, half the children achieved continence and 1 child, who awaited reconstructive surgery, had slightly elevated serum creatinine. In summary, early diagnosis, complete neurourological evaluation and adequate management with careful follow-up monitoring risk factors to the upper urinary tract are mandatory.

Data are reported suggesting a high incidence of spina bifida occulta among testicular cancer patients. The relevance of a diagnosis of spina bifida occulta as a risk factor for testicular cancer is discussed, also considering the background information available on a common genetic origin for some urogenital malignancies which are often associated with different types of malformations.