Occult Dysraphism Research Articles

Malformations of the Spinal Cord: From Genetics to Diagnosis and Rehabilitation

AbstractSpinal cord malformations, known as “spinal dysraphisms” encompass a diverse range of spinal abnormalities characterized by incomplete median closure of mesenchymal, bone, and nervous tissues. They are classified as “open,” involving both the spinal cord and overlying tissues, or “occult,” affecting only nervous system structures. Neurulation abnormalities along the neural tube, from the rostral to the caudal portions, primarily cause these malformations. Clinical presentations vary, including cutaneous manifestations like hemangiomas, dimples, hair tufts, and scoliosis. “Tethered cord syndrome,” often associated with these malformations, manifests as a clinical syndrome rather than a primary anomaly. Newborns are typically asymptomatic, with malformations often identified by associated skin abnormalities. Older children may experience pain, sensory/motor disturbances, urinary/anal sphincter abnormalities, and muscle weakness affecting mobility. Neuroimaging, crucial for diagnosis and treatment planning, includes ultrasound, CT, and MRI. Surgical intervention, tailored to specific malformation subtypes, may involve the repair of myelomeningocele soon after birth or conservative management for asymptomatic occult dysraphism. Rehabilitation encompasses physical, occupational, recreational, and speech therapies. Prevention is paramount, emphasizing the role of health care professionals in prenatal care and education. This review aims to provide a systematic classification of spinal cord malformations to aid clinicians in diagnosis and management.

Monosymmetros Cephalothoracopagus Tetrabrachius and Tetrapus Piglets with Syndromic Evolution.

Conjoined twins are rare congenital malformations that have been reported in mammals. Two different cases are presented in this study. Case No. 1 features monocephalic, thoracopagus-conjoined twin piglets with anencephaly and palatoschisis of the Pietrain breed, and case No. 2 features monocephalic, thoracopagus conjoined twin piglets with palatoschisis and bifid root tongue of a mixed breed. These cases were examined using post-mortem and computed tomography (CT) examinations. In both cases, the conjoined symmetrical twins had a single head, one neck, and fused thoracic cavities, while the abdominal cavities were separated. Similarly, in both cases, they had four forelimbs and four hindlimbs and duplicated foramen magnum. During CT examination, in case No. 1, severe abnormalities were observed in the skull and vertebral column. In the left twin, occult dysraphism was seen from the C2 vertebra until the end of the vertebral column, and in the right twin, from the C3 vertebra until the end of the state vertebral level. In case No. 2, the oral cavity contained a tongue with a bifid root connected with one hyoid bone, and the soft palate presented a small cleft. During CT examination, the parietal bone and the occipital bones were partially duplicated. This case also presented occult dysraphism, but only in the cervical vertebrae, C1-C6 for the left twin and C1-C5 for the right twin. In both cases, abnormalities of the internal organs were revealed during necropsy. Conjoined twins with multiple congenital anomalies presented here enhance our understanding of the various clinical forms of conjoined cases in veterinary medicine.

Acute presentations of intradural lipomas: case reports and a review of the literature

BackgroundLumbosacral lipomas (LLs) may remain asymptomatic or lead to progressive neurological deterioration. However, sudden neurological deterioration is a rare and severe event. Herein, we report rare occurrences of sudden clinical deterioration in two previously asymptomatic children harbouring intradural LLs without dermal sinus tracts or signs of occult dysraphism. A review of the pertinent literature is also included.Case presentationOne child exhibited acute deterioration because of an epidural abscess associated with a filar lipoma without a sinus tract (probably caused by haematogenous spreading from a respiratory tract multiple infection), and the other child exhibited acute deterioration because of a very large, holocord syringomyelia-like cyst associated with a small conus lipoma. Both patients were 4 years old. In case #2, a previously undetected, severe tethered cord (conus at the S3-S4 level) was also present. A complete recovery was attained after an urgent surgical operation in both cases (in addition to targeted antibiotic therapy in case #1). All cases of deterioration in the literature were caused by abscess formation in dermal sinus tracts.ConclusionsProphylactic surgery may be indicated even in asymptomatic children that have tethered cord and surgically favourable LLs (small dorsal and filar LLs), especially if the conditions are associated with progressive syringomyelia. Similarly, intradural dermal sinus tracts should be regarded as surgery-indicated, even if the conus is in its normal position and the patient is asymptomatic because there is a consistent risk of severe, infection-related complications. Finally, asymptomatic patients with filar LLs and a normally located conus can be candidates for surgery or an accurate clinical and radiological follow-up.

Quelle conduite devant une fossette sacrée ?

A sacral dimple measuring less than 5mm, within 25mm of the anus on the median line, with no other cutaneous anomaly, does not require any complementary examination. Parents can be reassured. However, any cutaneous depression in the sacrolumbar region not respecting these criteria must be considered as an occult dysraphism until proved otherwise. A medullary ultrasound examination and a consultation with a specialist (pediatric neurosurgeon) are necessary. The dermic sinus is the main differential diagnosis, with favorable outcome in case of early treatment before any infectious complication arises. Conversely, the risk of permanent sequelae is high if neglected or in case of late diagnosis.

Prenatal diagnosis of lipomyelomeningocele by ultrasound and magnetic resonance imaging (MRI)

The authors report a case of a lipomyelomengocele with tethered cord, revealed on prenatal ultrasonography and confirmed by fetal magnetic resonance imaging (MRI).A 32-year-old woman, gravida 1 para 1 underwent the routine second trimester prenatal ultrasound scan at 22(+5) weeks of gestation at the present hospital.The scan indicated an echoic semisolid subcutaneous mass covered by skin, posterior to the lumbosacral spinal canal of the fetus. Based on the findings indicating occult dysraphism, a fetal MRI examination was conducted, revealing that the mass was extending to the spinal cord, tethering the cauda equina. The diagnosis of lipomyelomeningocele was established.Lipomyelomeningocele is a form of closed neural tube defect with unclear predisposing factors. Its prevalence ranges between 0.3 and 0.6 per 10,000 live births. It leads to progressive conus tethering with associated neurological, urinary, and gastrointestinal deficits, demonstrating the importance of prenatal diagnosis.

948 Occult Lumbar Dermoid Cyst Revealed by Recurrent Klebsiella Meningitis

IntroductionLumbar dermoid cysts and other occult dysraphisms are sometimes difficult to diagnose. These anomalies are occasionally detected after a nervous central system infection.Case ReportPreviously healthy 10 month-old child, admitted after...

Neurogenic Bladder in Children: Basic Principles, New Therapeutic Trends

Diagnosis of neurogenic bladder is straightforward in children with myelomeningocele. However, recognition is more difficult in patients with occult dysraphism or central nervous system disorders since clinico-anatomical correlations are poor. Careful clinical examination and urodynamic exploration are mandatory for diagnosis and follow-up. Even if urinary leak is the first symptom, the main goal of the pediatric surgeon must be to preserve the upper urinary tract. The ideal protection strategy consists of ensuring that micturition is voluntary and complete and that the bladder capacity is sufficient with adequate compliance and sphincter outlet resistances. Balancing these functions requires a combination of medical and surgical treatment. A variety of techniques can be used depending on gender and age of the patient and social environment. In most cases, intermittent bladder catheterization is necessary to obtain complete evacuation of the bladder. Bladder capacity can be increased by anticholinergic drugs, injection of botulinum toxin into the bladder, and augmentation cystoplasty. Augmentation of bladder outlet resistances requires endoscopic injection of bulking agents, surgical bladder neck reconstruction and urethral lengthening, bladder neck suspension, and artificial urinary sphincter. In difficult cases, continent cystostomy with closure of the bladder neck can achieve definitive continence. At the beginning endoscopic treatment combining anti reflux procedure, injection of the bladder neck and botulinum toxin can be considered as a "total endoscopic management" and should be our first line. Other techniques are under evaluation. Sacral neuro-modulation has given promising results. Artificial tissue engineering will probably be used in the next future. Management of neurogenic bladder is not limited to urological considerations. Orthopedic, digestive, and sexual problems must also be taken into account in order to obtain an "acceptable quality of life".

Surgical Treatment of a Patient with Human Tail and Multiple Abnormalities of the Spinal Cord and Column

The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult dysraphism. The authors present a case of human tail occurring in a 9-month-old infant with multiple abnormalities of the spinal cord and spine. Examination revealed unremarkable except for a caudal appendage and a dark pigmentation area in the low back. Neuroradiological scans revealed cleft vertebrae and bifid ribbon, split cord malformations, block vertebrae, and hemivertebra. Surgical excision of the tail and untethering the spinal cord by removal of the septum were performed. The infant had an uneventful postoperative period and was unchanged neurologically for 18 months of followup. To our knowledge, no similar case reports exist in the literature. The specific features in a rare case with a human tail treated surgically are discussed in light of the available literature.

Pediatric tethered cord syndrome: response of scoliosis to untethering procedures

Tethered cord syndrome (TCS) is frequently associated with scoliosis in the pediatric population. Following spinal cord untethering, many patients continue to experience progression of spinal deformity. However, the incidence rate, time course, and risk factors for scoliosis progression following tethered cord release remain unclear. The aim of this study was to determine factors associated with scoliosis progression and whether tethered cord release alone would halt curve progression in pediatric TCS. The authors retrospectively reviewed 27 consecutive pediatric cases of spinal cord untethering associated with scoliosis. The incidence rate and factors associated with scoliosis progression (> 10 degrees increased Cobb angle) after untethering were evaluated using the Kaplan-Meier method. The mean age of the patients was 8.9 years. All patients underwent cord untethering for lower-extremity weakness, back and leg pain, or bowel and bladder changes. Mean +/- SD of the Cobb angle at presentation was 41 +/- 16 degrees . The cause of the spinal cord tethering included previous myelomeningocele repair in 14 patients (52%), fatty filum in 5 (18.5%), lipomeningocele in 3 (11%), diastematomyelia in 2 (7.4%), arthrogryposis in 1 (3.7%), imperforate anus with an S-2 hemivertebra in 1 (3.7%), and lipomyelomeningocele with occult dysraphism in 1 (3.7%). Mean follow-up was 6 +/- 2 years. Twelve patients (44%) experienced scoliosis progression occurring a median of 2.4 years postoperatively and 8 (30%) required subsequent fusion for progression. At the time of untethering, scoliosis < 40 degrees was associated with a 32% incidence of progression, whereas scoliosis > 40 degrees was associated with a 75% incidence of progression (p < 0.01). Patients with Risser Grades 0-2 were also more likely to experience scoliosis progression compared with Risser Grades 3-5 (p < 0.05). Whereas nearly all patients with Risser Grades 0-2 with curves > 40 degrees showed scoliosis progression (83%), 54% of patients with Risser Grades 0-2 with curves < 40 degrees progressed, and no patients with Risser Grades 3-5 with curves < 40 degrees progressed following spinal cord untethering. In this experience with pediatric TCS-associated scoliosis, patients with Risser Grades 3-5 and Cobb angles < 40 degrees did not experience curve progression after tethered cord release. Patients with Risser Grades 0-2 and Cobb angles > 40 degrees were at greatest risk of curve progression after cord untethering. Pediatric patients with TCS-associated scoliosis should be monitored closely for curve progression using standing radiographs after spinal cord untethering, particularly those with curves > 40 degrees or who have Risser Grades 0-2.

Cervical myelocystocele: prenatal diagnosis and therapeutical considerations

Cervical myelocystocele (CMC) is a very rare congenital malformation and belongs to the spectrum of skin-covered (occult) dysraphisms. Only 15 cases have been so far reported throughout the literature. We report the first case of CMC whose diagnosis was established prenatally by ultrasound imaging (US) followed by fetal magnetic resonance imaging (MR). A 35-year-old woman was referred for further investigations following prenatal assessment of a fetal cervical mass observed on routine US during pregnancy. Fetal karyotype was normal. Fetal MR confirmed the ultrasonographic findings and led us to strongly suspect the diagnosis of CMC. The newborn was operated on 2 months after birth. The goal of surgical procedure was to remove the malformation and to obtain an untethering of the spinal cord. Twelve months later, the child is still neurologically intact. We discuss embryogenesis, different subtypes, associated malformations, and surgical strategy associated with myelocystoceles. This case adds to the existing literature in that it shows for the first time antenatal images of this rare condition and discusses treatment and follow-up implications.

786: Effect of Multiple Spinal Cord Untetherings in Children with Myelodysplasia and Other Occult Dysraphisms

You have accessJournal of UrologyDiscussed Poster: Monday, May 22, 2006, 1:00 - 4:00 pm1 Apr 2006786: Effect of Multiple Spinal Cord Untetherings in Children with Myelodysplasia and Other Occult Dysraphisms Stuart B. Bauer, Shahram Khoshbin, Joseph G. Borer, Cormac Maher, and R. Michael Scott Stuart B. BauerStuart B. Bauer More articles by this author , Shahram KhoshbinShahram Khoshbin More articles by this author , Joseph G. BorerJoseph G. Borer More articles by this author , Cormac MaherCormac Maher More articles by this author , and R. Michael ScottR. Michael Scott More articles by this author View All Author Informationhttps://doi.org/10.1016/S0022-5347(18)33022-2AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail "786: Effect of Multiple Spinal Cord Untetherings in Children with Myelodysplasia and Other Occult Dysraphisms." The Journal of Urology, 175(4S), p. 255 © 2016 by American Urological AssociationFiguresReferencesRelatedDetails Volume 175Issue 4SApril 2006Page: 255 Advertisement Copyright & Permissions© 2016 by American Urological AssociationMetricsAuthor Information Stuart B. Bauer More articles by this author Shahram Khoshbin More articles by this author Joseph G. Borer More articles by this author Cormac Maher More articles by this author R. Michael Scott More articles by this author Expand All Advertisement PDF downloadLoading ...

Imaging of congenital anomalies and variations of the caudal spine and back in neonates and small infants

Spinal dysraphisms are categorized in open dysraphisms with prominent abnormal nervous tissue above the skinlevel and closed dysraphisms with a skin covered malformation. Especially the occult dysraphisms are marked by suspect skin masses and other dermal anomalies. The purpose of this review is to demonstrate the indications and spectrum of spinal sonography in neonates and infants. In comparison typical dysraphisms are demonstrated in sonography and MR Imaging. We demonstrate the value of ultrasound in comparison to MRI and describe a usefull handling of the methods in neonates and infants. The differentiation between the potentially dangerous dimples associated with dermal sinus, which can lead to meningitis and the harmless coccygeal dimple in the cranial gluteal cleft is presented. An inconspicious examination does not need a further imaging, but suspicious results of sonography need an MR imaging dependent of clinical conditions. Neurologically conspicious infants need MR imaging completed by sonography. Great advantages of sonography are the real time examination and the potential to show oscillations of the conus, filum and cauda equina in M-mode-imaging.

Spinal cord sonography in newborns: anatomy and diseases

Sonography of the spinal cord is a relatively recent acquisition that makes it possible to evaluate the content of the vertebral canal and study its pathologies. The aim of this study was to verify the reliability of ultrasound images by comparing them with magnetic resonance ones in healthy controls as well as in patients referred to us between 1991 and 2004. In this period, we studied 436 newborns: 88 without any suspicion of disease as normal controls, and 348 with suspected congenital diseases or in order to screen the children of diabetic mothers, a group that has shown an increased incidence of dysraphism. After explaining normal sonograms, we describe the pathological pictures observed in the 12 pathological cases in our series: conus hypomobility in five cases; lack of visualization of the conus medullaris in one case; and an enlarged ependymal canal in six cases. Four cases presented all three pathological conditions, and seven the association of two pathologies. All of these patients also underwent magnetic resonance imaging (MRI), which confirmed the ultrasound findings in four cases: three cases of enlarged ependymal canal and one of tethered cord hypomobility of the roots with an associated lipoma; the MRI findings were normal in the other seven cases. Sonography was highly specific but not very sensitive, because it is partially conditioned by patient collaboration. Nevertheless, subsequent MRI confirmed 37% of the suspected pathological cases. The ultrasound resolution of both normal and pathological spinal cord structures was particularly clear. The images were similar, easily comparable and often identical to the MRI results, although MRI was certainly more sensitive. The advantages of sonography are its non-invasiveness, low cost, the virtually ubiquitous availability of ultrasound equipment, the simplicity and rapidity of the examination, and its specificity. We believe that the indications for its use are lumbo-sacral skin alterations, neurological disorders caused by congenital malformations, traumas due to childbirth or a lumbar puncture, occult dysraphism, all of the compressive spinal cord neo-formations involving nerves, the dura mater and vertebral bone and joint structures, and the screening of the newborns of diabetic mothers.

The Role of Intraoperative Electromyographic Monitoring in Lumbosacral Lipomas

To demonstrate the role of intraoperative multichannel electromyographic (EMG) monitoring to reduce postoperative deterioration and achieve full untethering of complex occult dysraphisms. A retrospective analysis was performed on 66 patients who underwent operation for lumbosacral lipomas. Twenty recent cases were submitted to EMG monitoring and stimulation. All patients presented symptoms at the time of surgery, and 74% exhibited progressive deterioration during the lengthy preoperative period. Postoperative surgery-related deterioration was observed in 6% of patients. This number was reduced to zero with the introduction of intraoperative EMG monitoring. Intraoperative multichannel EMG monitoring can be carried out and requires only minimal changes to anesthetic procedures. With this method, it is possible to better identify the neural structures of complex malformations, reducing the risks of surgical damage and incomplete detethering.

Newborns with suspected occult spinal dysraphism: a cost-effectiveness analysis of diagnostic strategies.

To assess the clinical and economic consequences of different diagnostic strategies in newborns with suspected occult spinal dysraphism. A decision-analytic model was constructed to project the cost and health outcomes of magnetic resonance imaging (MRI), ultrasound (US), plain radiographs, and no imaging in newborns with suspected occult spinal dysraphism. Morbidity and mortality rates of early versus late diagnosis of dysraphism and the sensitivity and specificity of MRI, US, and plain radiographs were obtained from the literature. Cost estimates were obtained from a hospital cost accounting database and from the Medicaid fee schedule. We found that the choice of imaging strategy depends on the underlying risk of occult spinal dysraphism. In low-risk children with intergluteal dimple or newborns of diabetic mothers (pretest probability: 0.3%-0.34%), US was the most effective strategy with an incremental cost-effectiveness ratio of $55 100 per quality-adjusted life year gained. For children with lumbosacral dimples, who have a higher pretest probability of 3.8%, US was less costly and more effective than the other 3 strategies considered. In intermediate-risk newborns with low anorectal malformation (pretest probability: 27%), US was more effective and less costly than radiographs and no imaging. However, MRI was more effective than US at an incremental cost-effectiveness of $1000 per quality-adjusted life year gained. In the high-risk group that included high anorectal malformation, cloacal malformation, and exstrophy (pretest probability: 44%-46%), MRI was actually cost-saving when compared with the other diagnostic strategies. For the intermediate-risk group, we found our analysis to be sensitive to the costs and diagnostic performances (sensitivity and specificity) of MRI and US. Lower MRI cost or greater MRI diagnostic performance improved the cost-effectiveness of the MRI strategy, whereas lower US cost or greater US diagnostic performance worsened the cost-effectiveness of the MRI strategy. Therefore, individual or institutional expertise with a specific diagnostic modality (MRI versus US) may influence the optimal diagnostic strategy. In newborns with suspected occult dysraphism, appropriate selection of patients and diagnostic strategy may increase quality-adjusted life expectancy and decrease cost of medical work-up.

Antenatal diagnosis of spinal lipomas.

The purpose of this study was to highlight the key prenatal diagnostic features of fetal spinal lipomas. 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. 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.

Spinal Ultrasound in Cloacal Exstrophy

AIM: To assess the diagnostic value of spinal ultrasound in cloacal exstrophy, a caudal malformation which is associated with spinal dysraphism, and to assess the prevalence of spinal dysraphism in cloacal exstrophy. MATERIALS AND METHODS: Ten infants under 1 year old with cloacal exstrophy underwent spinal ultrasound at presentation. Three patients also had a magnetic resonance imaging (MRI) examination. Ultrasound and MRI images were reviewed and correlated. RESULTS: Nine of 10 patients had no external signs of spinal dysraphism. One patient had a clinically apparent myelomeningocele. Five of 10 patients (50%) had spinal dysraphism on ultrasound: there were two patients with a low cord, two with tethered cords and a lipoma, and one patient with tethering and a myelomeningocele. Thus, in four of these five patients spinal dysraphism was occult. In a small number of patients (n=3) MRI was also performed—in these cases the MRI and ultrasound appearances correlated, however MRI was not performed in those patients in whom spinal ultrasound was normal. CONCLUSION: In three cases where spinal ultrasound detected occult dysraphism and MRI was performed, spinal ultrasound and MRI correlated. Advantages of spinal ultrasound include ease of examination, production of high quality multi-planar images and the facility for portable imaging at the bedside. Spinal ultrasound should be the first investigation in all babies with cloacal exstrophy to diagnose occult and non-occult spinal dysraphism.Dick, E. A.et al. (2001).Clinical Radiology56 , 289–294.

Prenatal diagnosis of neural tube defects

14 cases of neural tube defect (NTD) were detected on screening of 1950 pregnant women over a period of 30 months by antenatal ultrasonography (USG) examination, suggesting an incidence of 7.1 per thousand conceptions. The distribution of types of NTD were occult dysraphism 14%, meningocele 14%, myelocele 7%, myelomeningocele 14%, encephalocele 14% and anencephaly 37%. The study established high accuracy of USG screening for antenatal diagnosis of NTD with sensitivity of 85.71% and specificity of 100%.

Standardized sonographic investigation of the lumbar spine in 247 newborns

Open dysraphism is generally known before birth due to prenatal screening but occult spinal malformation often remains unrecognized. Nevertheless, newborns with occult dysraphism could be easily diagnosed by ultrasound, which might be performed additionally to the neonatal screening of the hips. Early surgical treatment or close neuropediatric follow-ups could be administered as a consequence. As part of a prospective study-design, we screened the spinal cord of 247 newborns by ultrasound. Parents were interviewed about a positive family history, a folate intake during pregnancy, amniocentesis or chorionbiopsy. Clinically, cutaneous stigmata usually associated with occult spinal dysraphism were evaluated. An orthopedic and pediatric examination followed. The sonographic investigation was done in prone position using a newly designed positioning device. The sonographic examination was performed within 5 minutes and longitudinal and transversal pictures were taken for documentation. In all of the 247 examined newborns we were able to visualize the cartilageous structures of the spinal cord and the dural sack detailly. Dependent on the position of the newborn, variations of the width of the dural sack could be noted. Thus a newly designed positioning device helped to standardize the examination situation. We did not find any pathological changes of the spinal cord. Nevertheless ultrasonography provides a useful diagnostic tool in investigating the newborn where occult spinal dysraphism is expected.

Occult dysraphism in adulthood: clinical course and management

We present a series of 23 patients with dysraphic malformations and adult onset of symptoms (4 meningoceles, 19 spinal hamartomas). Mean age at presentation was 39 +/- 21 years (range 23-67 years). Patients were followed up for a mean period of 19 months (range 0.5-68 months). Only patients with progressive neurological disease were operated on (3 meningoceles and 16 spinal hamartomas). The remaining patients were treated conservatively and continue to be observed clinically. Two of three patients operated for meningoceles improved without recurrence of symptoms. Patients with spinal hamartomas could be divided into two groups according to their main symptom: paraparesis (group A, n = 8) or pain (group B, n = 11). Malformations in group B were typically associated with a tethered cord and tended to be more complex than in group A. The majority of patients in group A showed better long-term results than patients in group B, due to their considerably lower rate of recurrence.