Congenital Spinal Malformation Research Articles

Features of clinical manifestations, diagnosis and treatment of Bertolotti syndrome: а clinical case

BACKGROUND: One of the causes of pain in the lumbar spine may be congenital spinal column malformations. Bertolotti syndrome is a clinical and radiological symptom complex associated with sacralization of the LV vertebra, leading to disruption of the biomechanics of the lumbosacral spine and accelerated degeneration of facet joints and intervertebral discs, followed by foraminal and central stenosis of the spinal canal. The clinical manifestations of the disease can be polymorphic, and their cause is multifactorial. Thus, along with pain in the lumbar spine, patients with sacralization of the LV vertebra suffer from numbness and paresthesia in the lower extremities. The incidence of pathology ranges from 4% to 8%, mainly affecting elderly and mature people. СLINICAL CASE DESCRIPTION: Patient S was born in 1982 with long-term nonspecific pain in the back and lower limb; she presented to the Neurosurgical Department of the Irkutsk Scientific Center for Surgery and Traumatology. During a clinical neurological examination and additional introscopic studies of the lumbar spine, dorsopathy diagnosed. Degenerative spondyloarthrosis LIV–LV grade III according to D. Weishaupt. Sacralization of the LV vertebra type IIa according to Castellvi A.E. Syndrome of lumbar ischialgia on the right. Persistent pain and muscle-tonic syndrome. Minimally invasive interventional treatment was performed: pulsed radiofrequency ablation of the dorsal ganglion and radicular nerve at the level of the foraminal openings LIV–LV on the right and thermal radiofrequency ablation of the recurrent nerve of Luschka at the level of LIV–LV and LV–SI on the right. In the postoperative period, the intensity of the pain syndrome decreased, and the patient was discharged to work. CONCLUSION: A promising method of minimally invasive surgery is radiofrequency ablation in the area of neoarthrosis for denervation and relief of pathological pain impulses. Assessing the patient’s complaints, carefully collecting anamnesis, interpreting data from a clinical and neurological examination, and introscopic methods of examining the lumbar spine enables establishing an accurate diagnosis and selecting the most effective treatment method.

Ischemic myelomalacia and closed spinal dysraphism in multiple finishing swine.

Ischemic myelomalacia secondary to fibrocartilaginous emboli (FCE) is an idiopathic disease in humans and animals. On the other hand, congenital spinal cord malformations result from neural tube defects in fetal development (ie, spinal dysraphism), with structural anomalies referred to collectively as myelodysplasia. Spinal dysraphisms are frequently accompanied by skin and vertebral abnormalities because of the embryogenic relationship. In this observational case study, we report the pathologic findings of 13, 18- to 24-weeks-old pigs from a large conventional operation that presented with acute paraparesis. Ischemic myelomalacia secondary to FCE was observed in 5 of 13 examined pigs. Congenital spinal cord malformations located between the caudal thoracic and sacral spinal cord were identified in 7 pigs, with structural abnormalities that ranged from diplomyelia/split cord malformation to segmental spinal dysgenesis (myelodysplasia) to caudal agenesis. Concurrent myelomalacia and congenital spinal cord malformations in the same or different sites were noted in 2 pigs. No spinal lesion was observed in 3 pigs. Although gross vertebral abnormalities were not observed herein, intervertebral instability due to minor defects in the articular facets, as well as other unidentified factors, is suspected to contribute high incidence of FCE. It is likely that these congenital malformations were previously underdiagnosed or are possibly new conditions associated with continuous inbreeding and genetic improvement in the modern swine industry.

A comparison of the accuracy of fetal magnetic resonance imaging and ultrasonography for the diagnosis of fetal congenital malformations of the spine and spinal cord.

To determine the diagnostic value of fetal magnetic resonance imaging (MRI) for congenital spine/spinal cord malformations. This single-center retrospective study included 120 cases of fetal spine/spinal cord abnormalities detected using fetal ultrasonography (US) and further examined by fetal MRI between 2016 and 2020. Cases were divided into three groups (congenital spine, spinal cord, and spine+spinal cord malformations) based on US assessment. We analyzed the accuracy of fetal US and MRI relative to postnatal imaging. The diagnostic accuracy of fetal MRI for fetal spinal cord, spine, and spine+spinal cord malformations was 86.2% (25/29), 89.4% (42/47), and 86.3% (38/44), respectively, and the corresponding rates for fetal US were 51.7% (15/29), 87.2% (41/47), and 68.2% (30/44). The diagnostic accuracy did not differ between fetal MRI and US for congenital spine malformations (p>0.05); for congenital spinal cord malformations and congenital spine+spinal cord malformations, the diagnostic accuracy was significantly higher for fetal MRI than for fetal US (p<0.05). Fetal MRI is effective in the assessment of congenital spine/spinal cord malformations. It can yield information that supplements US findings, especially for congenital spinal cord malformations, and can improve the accuracy of fetal diagnosis.

Mapping and Monitoring During Surgery for Congenital Spinal Malformation

Mapping and Monitoring During Surgery for Congenital Spinal Malformation

Spinal Dysraphism: A Three Year Experience at Armed Forces Institute of Radiology and Imaging

Objective: To review all the patients of spinal dysraphism referred to our center over a three year period in order to identify the most typical neuro-radiological appearances on Magnetic Resonance Imaging.&#x0D; Study Design: Cross sectional study.&#x0D; Place and Duration of Study: Armed Forces Institute of Radiology and Imaging, Rawalpindi from Jan 2016 to Dec 2018.&#x0D; Methodology: MR spine reports of 144 patients of spinal dysraphism were retrospectively analyzed. Age, gender, indication for MRI, operative status, and neuro-radiological features (including site and type of lesion) were recorded for these patients.&#x0D; Results: Congenital spinal malformations were more frequent among females87 (60.4%) and between 0-20 years 135 (93.9%) of age. Tethered cord 97 (67.4%) was the most common congenital spinal abnormality followed by spina bifida, diastematomyelia, vertebral segmentation anomalies, myelomeningocele, menigocele. Lip-myelomeningocele, lipoma of filum terminale, and sacral agenesis. Frequently observed associated abnormalities included scoliosis 61 (42.4 %), syrinx 47 (32.6%) and dural ectasia 40 (27.8 %).&#x0D; Conclusion: Congenital spinal malformations are usually complex with variable radiological appearances. Modern high resolution MRI screening is the examination of choice for identification, preoperative evaluation, and long term follow up of such congenital anomalies.

Chronic itch induced by thalamic deep brain stimulation: a case for a central itch centre

BackgroundCentral itch syndrome has been previously described in conditions such as stroke. The neurophysiology of central itch syndrome has been investigated in non-human primates but remains incompletely understood.MethodsWe report an observational study of a rare case of severe central itch following thalamic deep brain stimulation and postulate the location of the central itch centre in humans.ResultsThe patient was a 47-year-old female, with congenital spinal malformations, multiple previous corrective spinal surgeries and a 30-year history of refractory neuropathic pain in her back and inferior limbs. Following multidisciplinary pain assessment and recommendation, she was referred for spinal cord stimulation, but the procedure failed technically due to scarring related to her multiple previous spinal surgeries. She was therefore referred to our centre and underwent bilateral deep brain stimulation (DBS) of the ventral posterolateral nucleus of the thalamus for management of her chronic pain. Four weeks after switching on the stimulation, the patient reported significant improvement in her pain but developed a full body progressive itch which was then complicated with a rash. Common causes of skin eczema were ruled out by multiple formal dermatological evaluation. A trial of unilateral “off stimulation” was performed showing improvement of the itchy rash. Standard and normalized brain atlases were used to localize the active stimulating contact within the thalamus at a location we postulate as the central itch centre.ConclusionsPrecise stereotactic imaging points to the lateral portion of the ventral posterolateral and posteroinferior nuclei of the thalamus as critical in the neurophysiology of itch in humans.

Comparative Study between the Role of Two dimensional and Three dimensional Ultrasound in Assessment of Fetal Central Nervous System Congenital Anomalies

ABSTRACT Objective: This study aimed to evaluate the role of three dimensional (3D) ultrasound compared with two dimensional (2D) ultrasound in diagnosis of fetal central nervous system congenital malformations. Patients and Methods: this Prospective study was performed on total 100 patients with gestational age from 18 weeks to 24 weeks who underwent 2D ultrasound then examined by 3D ultrasound at Obstetrics and Gynecology Department, Bab el-Sheria, Al-azhar University Hospital. Results: Statistical analysis revealed that the most common neurological malformations detected were Holoprosencephaly and Anencephaly which had significant high agreement between 2D and 3D regarding their diagnosis. There was significant agreement between 2D and 3D regarding the congenital fetal spinal and cranial malformations. The 2D and 3D ultrasound provided equal diagnostic information in microcephaly while 3D US provided more diagnostic information than 2D US for Choroid plexus cyst, agenesis of the corpus callosum and spina bifida. Our study revealed that the 3D US was superior to 2D US in identifying small cranial malformations as choroid plexus cyst and the spine e.g Spina bifida. Conclusion: In comparison with 2D US, 3D US improves the diagnostic capability by illustrating more diagnostic details in evaluation of malformations of the fetus, especially in visualization of fetal malformations of the small cranial anomalies and spina bifida . In addition to 2D US, 3D US is a valuable adjunct in prenatal detection of anomalies.

Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.

Spina Bifida (SB) is a congenital spinal cord malformation. Efforts to discern the key regulators (KRs) of the SB protein-protein interaction (PPI) network are requisite for developing its successful interventions. The architecture of the SB network, constructed from 117 manually curated genes was found to self-organize into a scale-free fractal state having a weak hierarchical organization. We identified three modules/motifs consisting of ten KRs, namely, TNIP1, TNF, TRAF1, TNRC6B, KMT2C, KMT2D, NCOA3, TRDMT1, DICER1, and HDAC1. These KRs serve as the backbone of the network, they propagate signals through the different hierarchical levels of the network to conserve the network’s stability while maintaining low popularity in the network. We also observed that the SB network exhibits a rich-club organization, the formation of which is attributed to our key regulators also except for TNIP1 and TRDMT1. The KRs that were found to ally with each other and emerge in the same motif, open up a new dimension of research of studying these KRs together. Owing to the multiple etiology and mechanisms of SB, a combination of several biomarkers is expected to have higher diagnostic accuracy for SB as compared to using a single biomarker. So, if all the KRs present in a single module/motif are targetted together, they can serve as biomarkers for the diagnosis of SB. Our study puts forward some novel SB-related genes that need further experimental validation to be considered as reliable future biomarkers and therapeutic targets.

Results of simultaneous and staged surgical techniques for the correction of congenital spine deformities associated with intracanal anomalies in children

Objective. To compare the results of simultaneous and staged corrective surgical interventions for congenital spine deformities associated with intracanal anomalies. Material and Methods. Design: retrospective mono-center observational case-control study. The study included the results of 127 surgeries performed in 49 patients aged from 4 months to 17 years at the time of surgery (mean age 9.2 years). The average follow-up period was 49 months. The study group included 33 patients who underwent simultaneous (in one surgical session) removal of the intracanal component and correction of spine deformity. In the control group (16 children), these interventions were performed in stages. The analysis criteria were: the comparability of groups: the structure of anomalies of the spine, spinal canal and spinal cord, concomitant maldevelopment of organs and systems, and the presence of skin markers; and the comparison of groups: the total volume of blood loss, the duration of surgery, the magnitude of the spine deformity and the neurological status of patients assessed before and after corrective surgery, and complications. Results. Spine pathology was predominantly represented by variants of segmentation failure in 41 (59.0 %) patients and multiple vertebral malformations with a leading component of segmentation failure in 22 (33.0 %) patients. Among pathologies of the spinal canal, Arnold-Chiari malformation (17 patients, 25.0 %) and type 1 diastematomyelia (22 patients, 32.0 %) dominated. In the neurological status, Frankel types D and E prevailed at baseline, accounting for 27.3 % and 42.4 % in the study group, and 25.0 % and 37.5 % in the control group, respectively. Skin markers were detected in 34 (69.0 %) patients. The scoliotic component of the deformity prevailed; the kyphotic component was detected in 17 (35.0 %) cases. The mean magnitude of scoliotic deformity before surgery was 28° (min 20°; max 105°), after surgery 10° (min 0°; max 70°). Correction in the study group was 68 %, in the control one – 57 %. The average duration of surgery in the study group was 227 min, in the control group – 198 min for the first operation and 204 min for subsequent ones. The average volume of blood loss in the study group was 286.6 ml, in the control group – 247.5 ml during the first operation and 266.6 ml during the subsequent ones. There were no significant changes in neurological status after surgery in both groups. Transient neurological complications were observed in 2 (4.5 %) patients of the study group and in 1 (4.0 %) in the control group. It was statistically proven that simultaneous intervention provides significantly lower blood loss with a comparable orthopedic result of surgery, which indicates the preferred use of a combined surgical technique. Conclusion. Performing neurosurgical and orthopedic (correction) stages in children with congenital spine deformities and spinal canal malformations in one surgical session is not statistically associated with a greater surgical aggression and complication rate, but is accompanied by a significantly lower total blood loss. Simultaneous intervention provides somewhat better initial correction of the deformity, eliminates the need for staged interventions, and also reduces the likelihood of complications potentially associated with each surgery.

Aberrantly expressed long non-coding RNAs in air pollution-induced congenital defects.

Air pollution has been a serious public health issue over the past few decades particularly in developing countries. Air pollution exposure during pregnancy poses potential threat to offspring as the deleterious substances might pass through placenta to alter foetal development. A growing number of studies have demonstrated that long non‐coding RNAs (lncRNAs) participate in the development of many diseases, including congenital defects. Here, we used RNA sequencing to identify differentially expressed lncRNAs in air pollution‐exposed rat embryos compared with control group. Our data suggested that 554 lncRNAs (216 up‐regulated and 338 down‐regulated) were significantly differentially expressed in the air pollution‐exposed embryos. Moreover, potential cellular functions of these deregulated lncRNAs were predicted via KEGG signal pathway/GO enrichment analyses, which suggested the possible involvements of neurological process, sensory perception of smell and the G‐protein signalling pathway. Furthermore, potential functional network of deregulated lncRNAs and their correlated mRNAs in the development of congenital spinal abnormality was established. Our data suggested that lncRNAs may play a vital role in the pathophysiology of air pollution‐exposed congenital spinal malformation.

STUDY DESIGN: CASE SERIES OF 19 PATIENTS OPERATED FOR SEVERE SCOLIOSIS AND DIASTEMATOMYELIA

ABSTRACT Objective: Diastematomyelia is a rare congenital spine and spinal cord malformation in which the spinal cord is divided into two parts by the osseous or fibrous septum. The incidence of diastematomyelia in patients with the most severe forms of congenital scoliosis is much higher than its general incidence in the population. When performing surgeries to correct scoliotic deformities, the question arises regarding the choice of a strategy for managing the septum. An unambiguous answer to this question does not exist, since the disease is very rare and heterogeneous. The aim was to summarize the data on different surgical strategies for detecting diastematomyelia. Methods: Literature review and retrospective analysis of our own clinical data. Results: We present our own experience of treating 19 patients with diastematomyelia and severe congenital scoliosis. Posture disorder was corrected in all cases; the septum was removed in none of the cases. Significant correction was achieved for all patients, and no neurological complications were observed in the short- and long-term follow-up. Conclusions: Surgical nonremoval of the spur enables compensation to be achieved, without neurological complications either in the immediate postoperative period or in the long-term (more than 2 years) follow-up. Level of Evidence IV; Case seriesh.

Craniofacial structure alterations of foetuses from folic acid deficient pregnant mice

IntroductionCraniofacial development in mammals is a complex process that involves a coordinated series of molecular and morphogenetic events. Folic acid (FA) deficiency has historically been associated with congenital spinal cord malformations, but the effect that a maternal diet deficient in FA has on the development of other structures has been poorly explored. In the present study, the objective was to describe and quantify the alterations of craniofacial structures presented in mouse foetuses from dams fed a FA deficient (FAD) diet compared with controls that were given a regular maternal diet. Material and methodsE17 mouse foetuses were removed from dams that were fed with a control diet or with a FAD diet for several weeks. Foetuses with maternal FAD diets were selected for the study when they showed an altered tongue or mandible. Histological sections were used to quantify the dimensions of the head, tongue, mandibular bone and masseter muscle areas using ImageJ software. The muscles of the tongue, suprahyoid muscles, lingual septum, submandibular ducts, and lingual arteries were also analysed. ResultsThe heads of malformed foetuses were smaller than the heads of the controls, and they showed different types of malformations: microglossia with micrognathia (some of which were combined with cleft palate) and aglossia with either micrognathia or agnathia. Lingual and suprahyoid muscles were affected in different forms and degrees. We also found alterations in the lingual arteries and in the ducts of the submandibular glands. Summarised we can state that pharyngeal arches-derived structures were affected, and the main malformations observed corroborate the vulnerability of cranial neural crest cells to FA deficiency. ConclusionThe present study reveals alterations in the development of craniofacial structures in FAD foetuses. This study provides a new focus for the role of FA during embryological development.

Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers

The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment.

Diastematomyelia in congenital scoliosis: a report of two cases

Even if diastematomyelia is a rare condition, it always has to be identified in case of diagnosing and treating a case of congenital scoliosis. The consequence of missing the diagnosis of such a malformation may be devastating to the involved patient. This paper wants once again to make aware the physicians of the eventual presence of a spinal dysraphic malformation when dealing with a congenital spinal malformation. The presence of diastematomyelia was noticed in two of our cases, one with congenital scoliosis and another with congenital kyphoscoliosis. First of all in these cases, we performed the resection of the bony septum, followed by spinal fusion in a single-stage surgical procedure. We noticed no complications during and after surgery related to the resection of the bony septum. In both patients, we obtained partial correction and stabilization of the congenital spinal malformation after a safe excision of the bony septum. Diastematomyelia is a rare condition. It has to be taken into consideration when dealing with a congenital scoliosis. The first step in the surgical procedure has to be the resection of the diastematomyelic septum. In case of a scoliosis ranging up to 30° and not presenting a progressive potential, the expectative-evaluation attitude is a correct one.

Imaging of Congenital Spine and Spinal Cord Malformations

This article reviews normal embryologic development of the spine and spinal cord and the imaging features of congenital abnormalities of the spine and spinal cord, with particular focus on magnetic resonance imaging. The authors discuss spinal dysraphisms, a heterogeneous group of congenital abnormalities of the spine and spinal cord, and provide information to expand understanding of these complex entities.

Prenatal diagnosis of fetal hemivertebra at 20 weeks&amp;rsquo; gestation with literature review

Hemivertebra is a rare congenital spinal malformation, where only one side of the vertebral body develops, resulting in deformation of the spine, such as scoliosis, lordosis, or kyphosis. We present the ultrasonographic features of a fetus with hemivertebra at 20 weeks' gestation confirmed by post mortem radiography and pathological examination. The prenatal literature on this disorder is also reviewed. Useful background information is provided for both clinicians and other health professionals who are not familiar with this condition.

Congenital Spine and Spinal Cord Malformations—Self-Assessment Module

The educational objectives of this self-assessment module are for the participants to exercise, self-assess, and improve their understanding of the most important features of congenital spine and spinal cord malformations.

Congenital Spine and Spinal Cord Malformations—Pictorial Review

Congenital abnormalities of the spine and spinal cord are referred to as spinal dysraphisms. This article reviews normal embryological development of the spine and spinal cord and the imaging findings of congenital abnormalities of the spine and spinal cord with particular focus on MRI.

Long-term follow-up in spinal dysraphism: Outcome of renal function and urinary and faecal continence

This study evaluated the renal and functional outcome in a cohort of adolescents with congenital spinal malformations followed at this department since birth. All patients went through same follow-up and algorithm of intervention during childhood. None of the patients was treated prophylactically, apart from receiving antibiotics. Sixty children (31 males, 29 females), born in 1989-1995, were evaluated from June 2006 to May 2007. Ultrasound of the bladder and the upper urinary tract was performed in all patients. Surgical and pharmacological intervention, bowel function, faecal and urinary continence were registered. Renal function was assessed by (51)Cr-EDTA and/or MAG-3 scintigraphy in patients who had previously experienced affected renal function or presented with deteriorated bladder function. Two children died during follow-up. In total, 47 urological procedures were performed in 23 patients. The most frequently conducted procedures were appendicovesicostomy (n = 11) and autoaugmentation (n = 11). Fourteen patients underwent untethering procedures, resulting in improved bladder function in five patients; nine were unaltered. Five patients had a moderate and two a severe decrease in glomerular filtration rate. Eighty-one per cent were performing clean intermittent catheterization, starting at a median age of 3.6 years. Anticholinergics were used in 50%. Sixty-two per cent were totally urine continent, 22% used incontinence pads in case of leakage and 16% were urine incontinent. Two patients had Malone procedures; 29% were using trans-anal irrigation. Eighty-three per cent were totally faecal continent. Close follow-up and appropriate intervention have improved renal function in children with congenital spinal malformation, but renal deterioration remains a risk. Total faecal and urinary continence could be achieved in 81% and 62%, respectively.

Congenital spinal lipomatous malformations

Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.