In utero Diagnosis of Spinal Dermal Sinus.

INTRODUCTION: Congenital dermal sinus (CDS) is an open neural tube defect (NTD) that occurs in 1 in 2,500 births a year and often goes undetected until patients present with complications like infection and neurological deficits. Early diagnosis and repair of CDS may prevent formation of these complications. In utero diagnosis of these lesions may improve long-term outcomes by enabling referral to specialty services and planned postnatal repair; however, only 2 such cases have been reported in the literature. We present a third case of in utero diagnosis of CDS with a description and discussion of findings from surgical exploration and pathology. CASE PRESENTATION: Routine prenatal ultrasound scan detected a tethered cystic structure arising from the back of the fetus at 20 weeks of gestation. Dedicated fetal ultrasound confirmed the presence of a cystic lesion protruding through a lamina defect, while fetal magnetic resonance imaging showed an intact spinal cord and meninges, suggesting a diagnosis of CDS. Neurosurgery followed along closely and took the child for surgical exploration on day 2 of life. A fibrous stalk with an intradural component and associated cord tethering was excised. Histology showed fibrous tissue without an epithelial-lined lumen. CONCLUSION: CDS is a form of NTD that occurs from nondisjunction of the cutaneous ectoderm and neuroectoderm during formation of the neural tube. Slight differences in how this error occurs can explain variations seen in this spectrum of disease, including CDS without an epithelial-lined lumen as seen in this case. Newborns with CDS can go undiagnosed for years and present with long-term complications. Fetal imaging can assist in early recognition and surgical excision of CDS in newborns.

Surgery for spina bifida occulta: spinal lipoma and tethered spinal cord.

The technical evolution of the surgery for spina bifida occulta (SBO) over the course of a half-century was reviewed with special foci placed on the spinal lipoma and tethered spinal cord. Looking back through history, SBO had been included in spina bifida (SB). Since the first surgery for spinal lipoma in the mid-nineteenth century, SBO has come to be recognized as an independent pathology in the early twentieth century. A half-century ago, the only option available for SB diagnosis was the plain X-ray, and pioneers of the time persevered in the field of surgery. The classification of spinal lipoma was first described in the early 1970s, and the concept of tethered spinal cord (TSC) was proposed in 1976. Surgical management of spinal lipoma with partial resection was the most widely practiced approach and was indicated only for symptomatic patients. After understanding TSC and tethered cord syndrome (TCS), more aggressive approaches became preferred. A PubMed search suggested that there was a dramatic increase of publications on the topic beginning around 1980. There have been immense academic achievements and technical evolutions since then. From the authors' viewpoint, landmark achievements in this field are listed as follows: (1) establishment of the concept of TSC and the understanding of TCS; (2) unraveling the process of secondary and junctional neurulation; (3) introduction of modern intraoperative neurophysiological mapping and monitoring (IONM) for surgery of spinal lipomas, especially the introduction of bulbocavernosus reflex (BCR) monitoring; (4) introduction of radical resection as a surgical technique; and (5) proposal of a new classification system of spinal lipomas based on embryonic stage. Understanding the embryonic background seems critical because different embryonic stages bring different clinical features and of course different spinal lipomas. Surgical indications and selection of surgical technique should be judged based on the background embryonic stage of the spinal lipoma. As time flows forward, technology continues to advance. Further accumulation of clinical experience and research will open the new horizon in the management of spinal lipomas and other SBO in the next half-century.

Spina bifida occulta with the persistent spinous process in living: A three-dimensionally reconstructed sacrum from computed tomographic imaging.

Background: Here we aim to report the persistent spinous process in the 'pan sacral type' of spina bifida occulta in an asymptomatic male and discuss its clinical significance. The presence of this type of dorsal wall defect with a bony spur attached to it has never been described in the literature to the best of our knowledge after extensive literature search. Our work presents the first anatomic description where the spinous and paraspinous cleft are seen in a sacrum of a live subject. Case Report: During a morphometric study of the sacra, normal subject computed tomography imaging (CT) was procured from the Department of Radio-diagnosis. A three-dimensional (3D) image of the sacrum was created using Dicom to Print and Geomagic freeform plus software. A complete dorsal wall defect was observed in a 3D reconstructed sacrum of an adult male. The sacral canal was converted into a groove with a bony spur hanging in the centre. The longitudinal bony spur attached to the lamina was the persistent spinous process. Conclusion: Such congenital defects are clinically significant for the anaesthetist during caudal epidural block and for orthopaedic surgeons before any surgical procedure. It may be misdiagnosed as an abnormal bony injury on CT. Thus, it is essential to ensure that patients with congenital anomalies are not treated unnecessarily for spinal fractures.

Case report: double dermal sinus tracts of the cervical and thoracic spine associated with congenital intracranial pathology (hydrocephalus and an interhemispheric cyst) in a newborn patient.

INTRODUCTION: A dermal sinus tract (DST) is an uncommon type of spinal dysraphisms characterized by a tract lined with stratified squamous epithelium that extends from the subcutaneous tissue to the underlying thecal sac or neural tube. These developmental anomalies can present asymptomatically with cutaneous abnormalities or with devastating complications. Usually, it is presented as a unique lesion, and there are only a few reports that show multiple sinuses, and none of them associated with midline brain malformations. METHODS: We present the case of a 3-day-old girl with an antenatal diagnosis of hydrocephalus who was diagnosed with double dermal sinus tracts of the cervical and thoracic regions at admission. The patient presented signs of elevated intracranial pressure (ICP), which imposed a challenge in the management of the case. RESULTS: Our patient was successfully treated initially with a lumbar puncture in order to discard a cerebrospinal fluid (CSF) infection. With negative CSF cultures, a ventriculoperitoneal shunt (VPS) was placed. Nine days after the VPS surgery and without signs of infection, the DST was excised in a single procedure, without follow-up complications. CONCLUSION: To our knowledge, this is the first description of a patient with multiple midline neural tube defects (NTDs) associated with congenital intracranial pathology. Although there are no guidelines regarding the best treatment for this complex associated pathology, the patient was treated, without follow-up complications.

The effect of transitional vertebrae and spina bifida occulta on disc herniation, disc degeneration, and end-plate changes in pediatric patients with low back pain.

The aim of the study is to investigate the assumption whether lumbosacral transitional vertebrae (LSTV) and spina bifida occulta (SBO) cause lumbar disc herniation (LDH), intervertebral disc degeneration (IDD), and vertebral endplate changes / Modic changes (MCs) in children and adolescents with low back pain (LBP). Four hundred patients (aged 10-17) with LBP persisting for at least six weeks were included in the study. Lumbosacral X-rays were examined for the presence of LSTV and SBO. The prevalence of IDD/MCs and LDH at L4-5 and L5-S1 levels were investigated by evaluating the lumbosacral MRI of the patients with and without LSTV-SBO. The study population consisted of 219 girls and 181 boys with mean age 14.9±1.9. LSTV was determined in 67 (16.8%) patients and SBO in 62 (15.5%). No significant difference was observed in the prevalence of IDD, MCs, and LDH in patients with and without LSTV/SBO. LSTV and SBO were not observed in approximately 80% of patients without LDH and IDD/MCs. The presence of LSTV and SBO does not appear to represent a risk factor for early degeneration in lumbar spine and LDH in children and adolescents with LBP.

Successful Neonatal, Intraoperative Neuromonitoring in the Surgical Correction of a Thoracic Dermal Sinus Tract: Technical Note.

INTRODUCTION: Intraoperative neuromonitoring (IONM) is commonly used during surgery of the spine and spinal cord for early surveillance of iatrogenic injury to the central and peripheral nervous system. However, for infants and young children under 3 years of age, the use of IONM is challenging due to incomplete central and peripheral myelination. CASE PRESENTATION: We report a case of a T4-T6 dermal sinus tract (DST) that was resected on day of life 23, with the successful use of IONM. CONCLUSION: To our knowledge, this is the youngest reported case of the use of IONM in the surgical correction of a DST in a neonatal patient. This case demonstrates the potential efficacy of IONM in neonatal spine surgery and the techniques used to adapt the technology to an immature nervous system.

Association of spinal anomalies with spondylolysis and spina bifida occulta.

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.

Surgical Treatment of Congenital Dermal Sinus: An Experience of 56 Cases.

OBJECTIVE: This study aims to assess the impact of early diagnosis and surgery on children with congenital dermal sinus, investigate the relationship between MRI findings and extent of surgical exploration, and summarize our clinical experience with the surgical management in cases with central nervous system (CNS) infection. METHODS: The skin features, preoperative MRI images, intraoperative findings, postoperative pathological characteristics, and prognoses of 56 children with congenital dermal sinus were analyzed retrospectively. RESULTS: All the children had a pinpoint ostium in the skin, and 52 out of the 56 children (92.9%) had intraspinal dermoid cysts or epidermoid cysts. Before surgery, MRI did not show intraspinal lesions in 13 children, and surgery revealed intradural lesions in 9 of these children (69.2%). Among 46 children without CNS infection, 16 children had neurological impairment before surgery. After surgery, recovery was complete in 36 children, partial in 9 children, and absent in 3 children. All children with CNS infection had neurological impairment before surgery. After surgery, the condition improved in 8 children and exacerbated in 2 children. Children without CNS infection had statistically significantly better prognosis than children with CNS infection (p = 0.03). CONCLUSION: A pinpoint ostium in the dorsal midline is the characteristic feature of congenital dermal sinus. In cases without intraspinal lesions on MRI, the spinal canal should be explored intraoperatively to ensure complete removal of the lesion and prevent recurrences. In cases without CNS infection, early diagnosis and timely surgery are beneficial to the recovery of nerve function.

Infected intracranial dermal sinus tract in a child.

Dermal sinus tracts (DSTs) are rare congenital defects occurring along the cranial spinal axis. They may extend from the skin into the deeper structures of the central nervous system. While most DSTs remain clinically occult, they can provide a route of entry for skin pathogens to cause intracranial infection. We report a child with a recent history of fever of unknown etiology who presented to our emergency department with a subcutaneous occipital mass. She was ultimately diagnosed with an infected intracranial dermal sinus tract. In this report, we provide a review of the literature on the diagnosis and management of this unique entity.

Distribution and imaging characteristics of spina bifida occulta in young people with low back pain: a retrospective cross-sectional study.

PURPOSE: Spina bifida occulta (SBO) is one of the most common congenital spinal deformities. Although many studies have demonstrated the influence of lumbosacral dysplasia on low back pain (LBP) in young athletes, there have been few studies on SBO among young people in other occupations. The purpose of this study is to investigate the distribution of SBO in young people with LBP and to classify SBO from the perspective of lamina development. METHODS: The X-ray films of 148 young patients with LBP were analyzed to quantify the distribution of SBO and classify abnormal laminae. RESULTS: Of the 148 patients, 93 (61.49%) had SBO: 83 cases involved S1 alone, 2 involved L5-S1, 5 involved S1-2, 2 involved S1-4, and 1 involved L4-S4. According to the degree of the defect, the patients with SBO were divided on the basis of five grades: 9 patients with grade I, 53 with grade II, 23 with grade III, and 8 with grade IV. The cases were classified by the shape of the laminae into 4 types: 15 cases of type a, 11 cases of type b, 37 cases of type c, and 30 cases of type d. CONCLUSION: Among the young people with LBP that we surveyed, SBO is the most common lumbosacral dysplasia, which frequently involves the S1 segment. Most laminae in SBO are in the developmental stage of the spinous process, and an abnormal laminar growth direction and laminar stenosis are the most common laminar morphologies in SBO.

Growth of Intramedullary Spinal Cord Dermoid Cyst from a Congenital Thoracic Dermal Sinus Tract after Negative Screening Ultrasound Imaging.

INTRODUCTION: Intramedullary thoracic dermoid cysts are rare lesions that are associated with dermal sinus tracts (DSTs). Current recommendations advocate for imaging-based screening of suspected DSTs shortly after birth to exclude associated inclusion lesions. CASE PRESENTATION: A 6-year-old male child presented with a 2-week history of progressive ataxia, lower limb weakness, and hyperreflexia. He was suspected to have a thoracic DST at birth, though initial screening ultrasound was negative for an inclusion lesion or intradural tract. On representation, MRI demonstrated a 3.9-cm intramedullary thoracic dermoid cyst causing significant spinal cord compression. Intraoperatively, a DST extending intradurally was found. The associated dermoid cyst was removed via intracapsular resection. CONCLUSIONS: Whilst dermoid cysts are presumed to progressively develop from DSTs, to our knowledge, this is the first case in English literature documenting a thoracic spinal cord intramedullary dermoid cyst following a negative screening ultrasound for a suspected DST. We use this case to highlight the false-negative rates associated with postnatal screening and advocate for early neurosurgical referral of suspected DSTs, regardless of imaging findings.

Infected congenital lumbosacral dermal sinus tract with conus epidermoid abscess: a rare entity.

PURPOSE: Dermal sinus is more commonly associated with intradural dermoid than an epidermoid cyst. Conus epidermoid cyst with dermal sinus is a rare entity. We are presenting a rare case of infected conus epidermoid cyst along with the dermal sinus in an 18-month-old girl presented with flaccid paraparesis with sphincter dysfunction and timely intervention leads to complete recovery. We had searched PubMed for previously reported similar cases and did a case-based review of the literature. CASE REPORT: This 18-month-old girl with discharging lumbosacral sinus with fever since 3 days presented with flaccid paraparesis with sphincter dysfunction. Preoperative magnetic resonance imaging (MRI) showed a large enhancing lesion from L1-S1 along with the dermal sinus tract. Complete excision of the cyst along with the sinus tract, followed by long-term antibiotic therapy. The excision of the infected cyst was done through myelotomy under neuromonitoring, while some part of the capsule densely adherent to the neural tissue was left behind. The patient gradually improved following surgery and motor power of the lower limbs were [Formula: see text] while going home. Histopathology revealed epidermoid cyst with secondary inflammatory tissue. Follow-up MRI of the spine showed excision of the dermal sinus tract and cyst with postoperative changes. At 1-year follow-up, the patient was asymptomatic without any focal deficits. CONCLUSION: Early surgical intervention followed by long-term antibiotic therapy is a must for good functional recovery in patients of an infected dermal sinus tract with associated cyst. While excising cyst through myelotomy, some part of the capsule densely adherent to neural tissue may be left behind. Regular follow-up in the first year of surgery is essential to look for the recurrence of the lesion.

Infected congenital cervical dermal sinuses leading to spinal cord abscess: two case reports and a review of the literature.

PURPOSE: Congenital dermal sinuses are a rare form of spinal dysraphism. The developmental defects are located along the midline neuroaxis, with sinuses in the cervical region being the least common. Congenital dermal sinuses can be associated with intraspinal infection as they act as a direct route from the skin and subcutaneous tissues into the spinal cord. METHODS: The authors present two cases of cervical dermal sinuses complicated by intramedullary abscess. Both children presented with neurological decline and febrile illness. MRI showed intraspinal abscess. Both underwent prompt surgical excision of the sinus tract, exploration of the cord and intravenous antibiotics. RESULTS: Both patients demonstrated excellent neurological recovery. CONCLUSIONS: Complete surgical excision of the sinus and tract in addition to long-term antimicrobials can yield excellent neurological outcomes. At surgery, do not expect to find pus when exploring the intramedullary component. Long-term follow-up is advocated due to potential late recurrence.

Congenital Dermal Sinus Elements in Each Tethering Stalk of Coexisting Thoracic Limited Dorsal Myeloschisis and Retained Medullary Cord.

INTRODUCTION: The embryogenesis of limited dorsal myeloschisis (LDM) likely involves impaired disjunction between the cutaneous and neural ectoderms during primary neurulation. Because LDM and congenital dermal sinus (CDS) have a shared origin in this regard, CDS elements can be found in the LDM stalk. Retained medullary cord (RMC) is a closed spinal dysraphism involving a robust, elongated, cord-like structure extending from the conus medullaris to the dural cul-de-sac. Because the RMC is assumed to be caused by impaired secondary neurulation, concurrent RMC and CDS cannot be explained embryologically. In the present article, we report a case in which CDS elements were noted in each tethering stalk of a coexisting LDM and RMC. CASE PRESENTATION: A 2.5-month-old boy with left clubfoot and frequent urinary and fecal leakage had 2 tethering tracts. The upper tract, which ran from the thoracic tail-like cutaneous appendage, had CDS elements in the extradural stalk and a tiny dermoid cyst in the intradural stalk immediately after the dural entry. In the lower tract, which ran from the lumbosacral dimple, the CDS as an extradural stalk continued to the RMC at the dural cul-de-sac. Both stalks were entirely resected through skip laminotomy/laminectomy at 1 stage to untether the cord and resect the CDS elements. CONCLUSION: Surgeons should be aware that CDS elements, in addition to LDM, may coexist with RMC that extends out to the extradural space.

Neurosurgical Pathology and Management of Limited Dorsal Myeloschisis Associated with Congenital Dermal Sinus in Infancy.

BACKGROUND: Because of the shared origin of limited dorsal myeloschisis (LDM) and congenital dermal sinus (CDS), CDS elements may be found within the fibroneural LDM stalk. When part of the CDS invested in the intradural stalk is left during untethering surgery, inclusion tumors such as dermoid cysts may develop. However, the most appropriate surgical strategy for LDM with CDS is still under debate. METHODS: Of 19 patients with LDM, 3 (15.8%) had histologically verified CDS elements. We retrospectively analyzed the clinicopathological findings of these patients. RESULTS: In patient 1, the entire stalk including a tiny dermoid cyst at the intradural stalk could be resected through two-level laminectomy during untethering at 6 months of age. In patients 2 and 3, the stalk appeared to be a typical LDM stalk during the initial surgery at 18 and 7 days, respectively; however, CDS was histologically diagnosed in the proximal severed end of the stalk. Postoperative three-dimensional heavily T2-weighted imaging demonstrated spherical enlargement of the remnant stalk, and the entire length of the remnant stalk including newly developed dermoid was resected during the second surgery at 3 years 11 months and 11 months, respectively. Histopathologically, glial fibrillary acidic protein-immunopositive neuroglial tissues and CDS elements were mainly located at the proximal and distal sites of the stalk, respectively, supporting the "dragging down and pulling up" theory. In patients 2 and 3, however, the proximal head of the dermoid cyst passed the distal head of the neuroglial tissues and located at the stalk-cord attachment. CONCLUSION: Surgeons should be aware of the approximately 10% possibility of the coexistence of CDS when managing infant LDM. However, the recommendation for excision of the entire length of the LDM stalk in all patients should be more carefully made because such a strategy may result in an unnecessary extent of laminotomy/laminectomy for most patients with pure LDM. However, once the postoperative histological examination reveals coexistence of CDS in the resected proximal part of the stalk, the entire length of the remnant stalk should be excised as soon as possible.

Radiologically occult cervical intradural dermal sinus tract: a case report and review of literature.

We report the unusual case of a 7-month-old girl presenting with congenital cervical dermal sinus tract in which the intradural tract was not detected on preoperative imaging and was identified intraoperatively. Considering possible devastating sequelae of infection, excision of dermal sinus tract might be justified even in the case with radiologically undetected intradural tract.

Retained medullary cord with sacral subcutaneous meningocele and congenital dermal sinus.

BACKGROUND: A retained medullary cord (RMC) is a rare closed spinal dysraphism with a robust elongated cord-like structure extending continuously from the conus medullaris to the dural cul-de-sac that is caused by late arrest of secondary neurulation. Five patients with RMC extending to an associated sacral subcutaneous meningocele have been reported. CASE PRESENTATION: We report an additional patient with RMC, in whom a congenital dermal sinus (CDS) was found in the caudal portion of the RMC. At the age of 3 days, the patient underwent surgery consisting of meningocele excision and cord untethering, and CDS was noted histologically in the proximal cut end of the RMC. During a second surgery at the age of 5 months, after determining the exact border of the nonfunctional RMC and the true conus by neurophysiological mapping, we removed the entire length of the remnant RMC, including newly developed epidermoid cysts in the CDS. CONCLUSION: Although the exact pathoembryogenesis of concurrent RMC and CDS is unknown, an associated subcutaneous meningocele, caused by failure of primary neurulation, could be involved. Surgeons should be aware of the possibility of the coexistence of CDS when dealing with RMCs that extend out to the extradural space.

Prenatal diagnosis of closed spina bifida: multicenter case series and review of the literature.

Objective: Closed spina bifida (CSB) is an abnormality of the posterior arch formation in which the defect is covered by the skin, without protrusion of nervous tissue. The prenatal diagnosis of CSB is very difficult, rarely diagnosed antenatally.Methods: We present a multicenter case series of six prenatal diagnosis of CSB using two-dimensional (2D) ultrasonography complemented with three-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI). All cases of prenatal diagnosis of CSB were confirmed in the postnatal period/termination of pregnancy by both clinical and/or imaging diagnosis (ultrasonography and MRI).Results: 2D ultrasonography allowed the prenatal diagnosis of six cases. We observed two cases of subcutaneous lipomas, two cases of meningoceles, one case of fibrolipomas, and one case of false-positive CSB (meningomyelocele). 3D ultrasonography using rendering mode was important in one case of meningocele (case# 3). Three cases were delivered at term and one of them was submitted to corrective surgery. All these three newborns were discharged from the hospital well and without neurologic signs. Termination of pregnancy was performed in three cases.Conclusion: During prenatal evaluation, detailed ultrasonographic assessment of the entire spine with the identification of the position and morphology of the conus medullaris and absence of cranial signs of spinal dysraphism are the most valuable sonographic clues for the diagnostic of the CSB.