Figure 11 - uploaded by Tomás Freddi
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Myelocystocele. Sagittal (a) and axial (b) T2-weighted images and drawing (c) show a low spinal cord ending in a large hydrosyringomyelic cavity (solid arrow), which herniates through the spina bifida (dotted arrows in b) into a meningocele () and anchors in its posterior wall. The terminal hydrosyringomyelic cavity is a continuation of the ependymal canal (arrowhead in a and c) that is dilated. Note that the cerebrospinal fluid (CSF) of the syringomyelia does not communicate with the CSF of the meningocele. (Fig 11a and 11b courtesy of Ricardo Mendes Rogerio, MD, Santa Casa de Misericórdia do Estado do Pará, Belém-Pa, Brazil.)
Source publication
Spinal dysraphisms (SDs) are congenital malformations of the spinal cord, determined by derangement in the complex cascade of embryologic events involved in spinal development. They represent a heterogeneous group ranging from mild clinical manifestations-going unnoticed or being discovered at clinical examination-to a causal factor of life quality...
Citations
... As stated before, the clinical symptoms of spina bifida range from benign and asymptomatic to severe neurologic, genitourinary, gastrointestinal, or musculoskeletal abnormalities [6]. The epidermis is usually intact, and may occasionally appear as hair tufts, hamartomas, hemangiomas, vascular malformations, dermal sinuses, and human tails [7]. ...
... Surgery involves the removal of abnormal anatomic structures acting on the spinal cord which may include transection of the filum, resection of transitional lipoma, lysis of adhesions, and excision of dermal sinus tracts. Surgical correction may also be warranted for the correction of concomitant disorders linked with spina bifida occulta, including urine retention, incontinence, impotence, constipation, anorectal abnormalities, tumors, and dorsocutaneous lesions [6]. ...
Introduction
Spina bifida occulta has a variety of symptoms that may hinder the diagnosis and subsequently delay appropriate treatment, causing a decrease in the patient's quality of life. This study aims to shed light on spina bifida occulta, with chronic low back pain as the predominant symptom, and the treatment applied in this case.
Presentation of case
A 46-year-old male was diagnosed with spina bifida occulta at the 5th lumbar spine after 2 years of having chronic low back pain that radiated to the left leg. He was initially diagnosed with chronic low back pain and was treated with epidural steroid injections which yielded a suboptimal outcome. Through an MRI examination, a spina bifida occulta at the 5th lumbar spine was identified and the patient was then referred to a tertiary hospital for further spinal decompressive treatments. The decompression level was obtained intraoperatively with the aid of intraoperative neurophysiological monitoring. Following the procedure, pain had almost completely subsided, and the patient regained full function for his daily activities without any pain or restrictions.
Discussion
Non-specific clinical symptoms hindered the prompt diagnose of occult spinal dysraphism. MRI examinations of the spine is required and recommended for the characterization of intraspinal and perispinal abnormalities. Using intraoperative neurophysiological monitoring, we observed an improvement of nerve function at the L3–L5 level following decompression at the L3 level.
Conclusion
The diagnosis of spina bifida can be challenging when patients are presented with non-specific clinical symptoms, in this case as pain. We recommend spinal MRI examinations in cases of chronic lower back pain that fail to improve following expected pain management and therapy. Intraoperative neurophysiological monitoring can be used to assist in the identification of the level for decompression, as well as the resolution of pain.
... Spinal dysraphism (SD) is a collective term for congenital malformations of the spine and spinal cord. 1 It includes a wide range of congenital anomalies resulting from aberrations in the stages of gastrulation, primary neurulation and secondary neurulation. 2 Spinal dysraphisms have a prevalence of ~1 to 3 per 1000 live births with the lumbosacral spine being the most common site. 1 Spinal dysraphisms may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, and sexual dysfunction, among others. ...
... 2 Spinal dysraphisms have a prevalence of ~1 to 3 per 1000 live births with the lumbosacral spine being the most common site. 1 Spinal dysraphisms may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, and sexual dysfunction, among others. 1 The diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. ...
... 2 Spinal dysraphisms have a prevalence of ~1 to 3 per 1000 live births with the lumbosacral spine being the most common site. 1 Spinal dysraphisms may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, and sexual dysfunction, among others. 1 The diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. However, early detection of SD is possible with proper understanding of the imaging features of the SD spectrum, which allows parent counselling, appropriate treatment planning and reduced morbidity related to these malformations. ...
Spinal dysraphism (SD) is a collective term for congenital malformations of the spine and spinal cord. It includes a wide range of congenital anomalies resulting from aberrations in the stages of gastrulation, primary neurulation and secondary neurulation. Spinal dysraphism may lead to neurological impairment of varying severity including weakness of the extremities, incontinence of bowel and bladder, sexual dysfunction, among others. Diagnosis of SDs is quite challenging because of its wide spectrum and complex cascade of embryologic events. Knowledge of normal embryology and proper understanding of imaging features of SD are important for early accurate diagnosis.
Contribution
This series of five cases describes the imaging spectrum of spinal dysraphism and highlights the embryological basis for their development, which could facilitate early correct diagnosis, surgical planning and reduced morbidity related to these malformations. It also includes an extremely rare case of complex spinal dysraphism (Type II diastematomyelia with right hemimyelomeningocoele and left hemilipomyelomeningocoele) with Chiari II malformation.
... The roots descend practically vertically to the foramina that correspond to them, which are clustered around the filum terminale inside the spinal theca. The lower limbs are innervated by the cauda equina, which also innervates sphincters that control the function of the bladder and distal colon [1]. ...
... Spinal dysraphisms (SDs), congenital anomalies of the spinal cord, are caused by disruption in the intricate series of embryologic processes involved in spinal development [2]. Spinal dysraphism is a term used to describe a variety of disorders involving abnormalities in the development of the spine and spinal cord, and it occurs between 3.2 and 4.6 times per 10,000 infants [1]. ...
... He was delivered as a full-term normal vaginal home delivery, without undue prolongation or complication. 1 2 1 3 On general examination, the patient was conscious and well-oriented to time, place and person. The patient was hemodynamically stable and no significant findings were found on general examination. ...
A posterior midline cutaneous lesion known as a faun tail nevus or aberrant lumbar hypertrichosis is significant to doctors because it may serve as a cutaneous signal for an underlying spinal cord and spine abnormalities. We describe a 17-year-old child who, since infancy, has had excessive hair development over his lumbosacral area. The lower spinal cord was affected by a related spinal abnormality. Clinical evidence was used to make the diagnosis. The patient presented with complaints of asymmetric monoparesis which on clinical examination and radiological investigations was found to be cauda equina syndrome secondary to spina bifida occulta. This case is reported for its clinical importance as patients with spina bifida occulta may show late deterioration.
... In addition, until 34-36 gestational weeks, the periventricular white matter is the most vulnerable region. After this period, the changes in vascularization result in a major vulnerability of the subcortical white matter and the cortex (28). The nonappearance of the intermediate layer at fetal ages less than 30 weeks suggests white matter injury early in embryologic development [4]. ...
... Neural tube defects are the second most common major fetal congenital anomaly after congenital heart disease. The current classification subdivides spinal dysraphism entities into two main categories, namely, open and closed, and further subdivides closed spinal dysraphisms into those with and without subcutaneous masses [22,28]. ...
... These patients may present with Chiari II malformation due to the leakage of cerebrospinal fluid (CSF) through this spinal defect. Closed spinal dysraphisms are differentiated from open defects because of the thickness of the tissues covering the herniating spinal materials and fluid ( Fig. 13) [22,28]. ...
Among fetal surgical procedures, neurosurgery stands out due to the number of cases and the possibility of developing new procedures that can be performed in the fetal period. To perform fetal neurosurgical procedures, there is a need for specialized centers that have experts in the diagnosis of fetal pathologies and a highly complex obstetrics service with specialized maternal–fetal teams associated with a pediatric neurosurgery center with expertise in the diverse pathologies of the fetus and the central nervous system that offers multidisciplinary follow-up during postnatal life. Services that do not have these characteristics should refer their patients to these centers to obtain better treatment results. It is essential that the fetal neurosurgical procedure be performed by a pediatric neurosurgeon with extensive experience, as he will be responsible for monitoring these patients in the postnatal period and for several years. The objective of this manuscript is to demonstrate the diagnostic and treatment possibilities, in the fetal period, of some neurosurgical diseases such as hydrocephalus, tumors, occipital encephalocele, and myelomeningocele.
... Although the exact mechanism of occurrence of anomalous non-neural structures with spinal dysraphisms is not well understood, various tissues such as muscle, fat, nerve, and bone can be observed rarely with closed spinal dysraphisms, more likely lipomyelomeningoceles. [1][2][3][4] ...
... Closed spinal dysraphism with subcutaneous mass (lipoma with dural defect) includes lipomyelomeningocele and lipomyelocele depending on the location of cord lipoma interface. [1] The association of anomalous osseous limb with spinal dysraphism is rare. [1][2][3][4][5][6] Such association was first described by Krishna et al. in 1989. ...
... [1] The association of anomalous osseous limb with spinal dysraphism is rare. [1][2][3][4][5][6] Such association was first described by Krishna et al. in 1989. [4] Gardner and Egar hypothesis proposes lipomyelomeningoceles to be a secondary NTD, where rupture of neural tube beneath an intact ectoderm leads to accumulation of proteinaceous fluid under skin, serving as rich source of Schwann cells, which further dedifferentiates into non-neural elements such as fat, cartilage, bone, nerves, muscle, or finally into an accessory limb. ...
Anomalous osseous limb is a rare entity and its association with spinal dysraphism is all the more rarer. We report one such case of lipomyelomeningocele in 1-month-old female, with associated anomalous osseous structure/ limb in relation to iliac bones. Various investigators in the past, though, have published association of anomalous osseous limb with lipomyelomeningocele, the uniqueness of our report lies in documenting such an anomaly at this early age, with paucity of literature in this young age, to the best of our knowledge.
... O sexo feminino é o mais acometido por esta condição, cerca de três vezes mais, e a região lombar a mais envolvida, podendo apresentar-se em qualquer faixa etária (BARRIEL et al.,2009). Pode ser classificada em tipos I e II, sendo o tipo I (cerca de 25% dos casos) marcado pela presença de um septo osteocartilaginoso com formação de dois sacos durais envolvendo cada uma das hemimedulas, enquanto o tipo II apresenta saco dural único (Figura 11.1) (TRAPP et al.,2021). Os sintomas clínicos são, em sua maioria, a dorsalgia, parestesia e redução da força muscular em membros inferiores. ...
A Neurologia é a uma subárea da Ciências da Saúde que contempla a prevenção, diagnóstico, tratamento e intervenções das doenças que afetam o sistema nervoso central e seus componentes diretos e indiretos, como por exemplo, órgãos periféricos, funções múscoloesqueléticas. Para muitos acadêmicos e até mesmo profissionais da Neurologia, ela ainda é um campo em crescente expansão de conhecimento, que necessita atualização técnica constante devido às expansões tecnológicas dos últimos anos, o que permitiu avaliar mecanismos de ação de fármacos, diagnósticos mais modernos, intervenções cirúrgicas até então restritas apenas a alguns centros médicos de grande desenvolvimento. Portanto, a Editora Pasteur organizou o livro Neurologia: Diagnósticos, Tratamentos e Cirurgias II, com estudos de excelência dentro desta subárea, os quais permitem ao leitor amante da Neurologia se atualizar e buscar maiores conhecimentos.
... Spinal dysraphism postulates an array of congenital abnormalities leading to a defective neural arch along which the meninges are herniated causing various clinical manifestations (Warner et al., 2019). These malformations of the spine and the spinal cord occur between the third and fourth week of gestation (Trapp et al., 2021). The term spinal dysraphism conclude the set of defects inferred from the abnormal development of ectoderm, mesoderm and endoderm tissues and its outcome might affect brain, extremities, bones, bladder and bowel functions. ...
The development of the spinal cord can be summed up in three developmental stages: gastrulation (2–3 weeks), primary neurulation (3-4 weeks) and secondary neurulation (5–6 weeks). Any sort of deviance in any of these stages causes anomalies in spine and spinal cord; these anomalies are referred as spinal dysraphism. The approximated incidence of spinal dysraphism is about 1/1000 live births. The present study aims at varied presentations, management and surgical consequences in spinal dysraphism. Methods: A study on surgical treatment of spinal dysraphism was done over the period of 6 months from December 2019- May 2020 at GMC, Jammu. In the study at hand; the clinical aspects, management and surgical outcomes in case of spinal dysraphism were characterized. Results: A total of 30 patients of spinal dysraphism were operated with 70% males and 30% females. The age group selected for the study was between 0-3 years. In early post-operative period the most common symptoms were found to be meningitis (6%), minor wound infection (10%), major wound infections (14%) and 14% patients reported CSF leakage. Out of 30 patients who underwent surgery, 67% patients had good outcome, 20% reported satisfactory outcome and 13% reported poor outcome with an overall mortality rate of 13%. Conclusion: Spinal dysraphism is a complex disorder and requires a multidisciplinary approach for management. The present study suggests that surgery is the prominent treatment along with good post-operative care for the better life of the patient.
Congenital spine abnormalities are spinal conditions that manifest in a person before birth. Early in fetal development, the vertebrae do not develop properly, which leads to structural issues with the spine and spinal cord. The etiology of congenital spine abnormalities can be genetic, environmental, dietary, or a combination of multiple factors. The pathogenesis of the disease is significantly influenced by genetic factors. Defective somitogenesis causes congenital spine abnormalities, which are linked to vitamin A deficiency (VAD). Congenital malformations of the spine can be scoliosis, lordoscoliosis, kyphoscoliosis, and pure kyphosis. They are sometimes manifested physically as a tilted pelvis, trouble breathing, aberrant back curvature or twisting to the left or right, forward or backward, or unequal shoulders, hips, waist, or legs. Prenatal screening of spina bifida and other congenital anomalies has become a prerequisite in all pregnancies. An anomaly scan is performed at 20 weeks to rule out these anomalies. Screening tests like alpha-fetoprotein assays and beta hCG confirm the diagnosis early in pregnancy; however, an ultrasound scan has become the standard. Postnatal diagnosis can be made through ultrasound, MRI, and CT myelogram.
Spinal lipoma is one of the congenital abnormalities that affects the spinal cord. The suffix ‘oma’ is used to described a neoplastic event involving in pathophysiology of a lesion. Filum terminale has been termed “The unpaired nerve”, because it is what remains of the spinal cord at the end of the coccyx, was described by Galen. The prevalence of the disease remains unknown. Filum lipoma is a simple close dysraphism without any subcutaneous mass. It occurs because of an abnormality of secondary neurulation. Filum lipoma is benign, overgrowth of fat cells. In normal adults, the incidental fat within filum terminale is about 17%. The most commonly recorded symptoms include pain, sensory disturbance, weakness, and urinary disturbance. The test of choice would of course be magnetic resonance imaging (MRI). It has been suggested that the threshold of diagnosis of thickened filum is 2 mm. The classification of FL is based on whether the conus medullaris is at a normal age-specific position or not in addition to the presence of symptoms (neurological manifestations). Surgical intervention is the choice. Generally, symptomatic patients with low-lying conus medullaris should undergo detethering procedure. This is done by sectioning the thickened filum terminale which interrupts the connection between the conus medullaris and fat-infiltrated and hypertrophied filum. Overall, filar lipoma is considered a benign disease. Its treatment, especially the prophylactic method, carries significantly better prognosis with low complication rate.
Simple Summary
This review delineates the diagnostic challenges in distinguishing neoplastic from non-neoplastic spinal cord pathologies, highlighting the importance of a comprehensive radiological evaluation. An integral component of this evaluation is the detailed analysis of MRI findings to accurately diagnose lesions that mimic spinal cord tumors. It emphasizes the need for careful consideration of common non-surgical myelopathies in differential diagnoses due to their higher prevalence. Additionally, the review discusses the principal etiologies of spinal pseudotumors, including inflammatory, vascular, and infectious neurological diseases. This approach aims to refine diagnostic accuracy and enhance clinical decision-making by providing a nuanced understanding of the varied manifestations of spinal cord pathologies.
Abstract
Differentiating neoplastic from non-neoplastic spinal cord pathologies may be challenging due to overlapping clinical and radiological features. Spinal cord tumors, which comprise only 2–4% of central nervous system tumors, are rarer than non-tumoral myelopathies of inflammatory, vascular, or infectious origins. The risk of neurological deterioration and the high rate of false negatives or misdiagnoses associated with spinal cord biopsies require a cautious approach. Facing a spinal cord lesion, prioritizing more common non-surgical myelopathies in differential diagnoses is essential. A comprehensive radiological diagnostic approach is mandatory to identify spinal cord tumor mimics. The diagnostic process involves a multi-step approach: detecting lesions primarily using MRI techniques, precise localization of lesions, assessing lesion signal intensity characteristics, and searching for potentially associated anomalies at spinal cord and cerebral MRI. This review aims to delineate the radiological diagnostic approach for spinal cord lesions that may mimic tumors and briefly highlight the primary pathologies behind these lesions.
