Congenital Spinal Abnormalities Research Articles

Erectile Dysfunction in Adults: A Review of Neurological Causes and Risk Factor Analysis

Erectile dysfunction (ED) is a prevalent condition affecting adult men globally, characterized by the inability to achieve or maintain an erection sufficient for sexual intercourse. Neurological causes, including multiple sclerosis, Parkinson's disease, ischemic stroke, congenital spinal abnormalities, and spinal cord injuries, disrupt neural pathways essential for erectile function. Additionally, chronic conditions such as diabetes mellitus, hypertension, hyperlipidemia, and cardiovascular diseases, along with lifestyle factors like smoking and alcohol consumption, exacerbate ED by compromising vascular health. Psychological stressors further complicate the etiology of ED. Pelvic surgeries, cavernous nerve injuries, and certain medications, including antihypertensives and antidepressants, contribute to ED progression. Effective management requires addressing these neurological, vascular, hormonal, and psychological factors, necessitating a multidisciplinary approach involving specialists such as neurologists, urologists, endocrinologists, and mental health professionals. This review highlights the complex interplay between neurological disorders, systemic conditions, and lifestyle factors in the pathophysiology of ED, emphasizing the need for tailored treatment strategies targeting the underlying contributors to improve patient outcomes.

A Case Report of Two Youthful Brothers: The Spine Combines with Multiple Butterfly Vertebrae and Hemivertebrae

Butterfly vertebrae (BV) and Hemivertbrae (HV) are all rare congenital spinal abnormality and usually reported in the literature as an isolated finding. As far as the authors know, cases with multiple butterfly deformities and hemivertebra deformities of the spine are very rare. The condition of two brothers suffering from this disease at the same time has not been reported in the literature. We report two youthful brothers, the young brother, 14-year-old, who has butterfly vertebrae at T6-T11, L1, L3, and a hemivertebrae at L4; the old brother, 18-year-old, who has butterfly vertebrae at T5, T6, T8, T10, T11, T12, L1, L3, L4, L5, S1. They all have scoliosis and low back pain, and a 46, XY karyotype. The old brother performed TBX6 and APOB mutation.

Evaluation of Cerebral and Spinal Abnormalities on Magnetic Resonance Imaging in Infants with Myelomeningocele: A Retrospective Observational Study

Introduction: Spinal dysraphism includes a diverse collection of congenital spinal abnormalities that occur due to flawed closure of the neural tube and can be classified as open or closed types. The most common form of open spinal dysraphism is Myelomeningocele (MMC), which is characterised by a bony spinal defect and a sac in the back region containing dysplastic neural tissue and cerebrospinal fluid. MMC is associated with various intracranial and spinal anomalies that can lead to neurological, intellectual, and cognitive impairments. Imaging is necessary for the diagnosis of these anomalies and for surgical management planning and follow-up. Aim: To evaluate the associated intracranial and spinal anomalies in infants with MMC who presented with low back swelling since birth. Materials and Methods: The retrospective observational study was conducted in the Department of Radiology at Gajara Raja Medical College, Gwalior, Madhya Pradesh, India, from January 2020 to December 2022. A total of 117 subjects under one year of age, clinically diagnosed with MMC, were included in the study. Brain Magnetic Resonance Imaging (MRI) images were available for 84 patients, and spine MRI images were available for 113 patients. The MRI images were evaluated for bony and spinal anomalies. Data analysis was performed using IBM’s Statistical Package for Social Sciences (SPSS) version 20.0. Results: The mean age of the study participants was 1.7±2.9 months, with 70 males and 47 females (M:F=1.5:1). The most common location of spina bifida was lumbosacral 36 (31.9%), followed by lumbar 31 (27.4%), dorsolumbar 30 (26.5%), and sacral 16 (14.2%). A low-level spinal defect was observed in 39 cases (34.5%), and a high-level spinal defect was observed in 74 cases (65.5%). The spinal anomalies detected on MRI included syringomyelia 80 (70.8%), low-lying cord 59 (52.2%), bony abnormalities 26 (23.01%), diastematomyelia 16 (14.2%), and fatty filum terminale 3 (2.7%). Among the intracranial anomalies, the most common was dilated lateral ventricles 62 (73.8%). The most common infratentorial anomaly was Chiari II malformation 58 (69.1%). Corpus Callosum (CC) abnormalities were found in 40 cases (47.6%), with complete agenesis seen in three cases (3.6%), cerebellar hypoplasia in 20 cases (23.8%), absent septum in 15 cases (17.9%), and colpocephaly in 10 cases (11.9%). Conclusion: Spinal dysraphism, such as MMC, and cerebral anomalies often co-exist and can have an impact on neurological, intellectual, and cognitive functions. Chiari II malformation, corpus callosal anomalies, ventriculomegaly, and syringomyelia are frequently associated with MMC. Therefore, imaging evaluation of both the spine and brain is necessary for surgical treatment planning and long-term follow-up in MMC.

Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

BackgroundIntellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge, hypertelorism, and hypotonia. This condition exhibits as autosomal dominant inheritance and is caused by a heterozygous variant in the BRPF1 gene. Additionally, the copy number variation in the terminal region of chromosome 3p (MIM #613792) has been shown to manifest in most patients as intellectual disability, motor delay, and hypotonia.Case presentationWe present an 18-year-old male patient with facial dysmorphism, intellectual disability, ptosis, and congenital heart disease. Using chromosomal microarray analysis, a previously unreported 90 kb deletion involving seven genes was found.ConclusionWhen comparing our findings with 39 previous reports, we found that the common clinical features of this syndrome, such as gross motor delay, hypotonia, and congenital spinal cord abnormalities, were not observed in this patient. From the seven genes implicated in the deletion, only BRPF1 could be strongly correlated with the phenotype, according to its function and haploinsufficiency coefficients.

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.
 Study Design: Cross sectional study.
 Place and Duration of Study: Armed Forces Institute of Radiology and Imaging, Rawalpindi from Jan 2016 to Dec 2018.
 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.
 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 %).
 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.

ISSUES OF THE TEAM OF DOCTORS INVOLVED IN ASSISTANCE AN EXTREMELY PREMATURE INFANT WITH CONGENITAL SCOLIOSIS (CLINICAL CASE)

The number of newborns who already have various malformations at birth is, according to WHO data, 2.5- 3%. Almost 1% of them are manifestations of monogenic diseases, about 0.5 % - chromosomal diseases, 1.5-2 % are caused by congenital malformations (СМ) caused by the influence of adverse factors of exogenous and endogenous origin. The frequency of СМ increases by the end of the first year of a child's life and reaches 5-7 % due to the manifestations of undiagnosed malformations of vision, hearing, nervous and endocrine systems at birth. The estimate of the incidence of congenital spinal abnormalities in the general population is 0.13-0.5 / 1000 newborns. About 10-12 % of children have scoliosis. In some children, this pathology is congenital and refers to complex neonatal pathologies of spinal malformations.The relevance and priority of issues of prevention and early treatment of congenital scoliosis are due to the development of severe deformities, disorders in the internal organs, as well as cosmetic defects.The article describes a clinical case of congenital scoliosis in a prematurely born child with another congenital pathology specific to the perinatal period, which was detected and confirmed before the end of the first week of the child's life: respiratory distress syndrome of the newborn, intraventricular hemorrhage grade III, signs of periventricular leukomalacia with discrete hemorrhages in the spinal cord, dimorphic syndrome, anemia of premature babies, metabolic disorders (hyperkalemia), prematurity is 28 weeks.The description of this clinical case raised topical questions that inevitably arose from a team of doctors who were involved in the medical care of a child with extremely low birth weight. The components of primary, secondary, and tertiary prevention of the development of hereditary pathology are identified, both at the stage of pregnancy planning and in the prenatal period. The defining role in the complex of measures for the Prevention of congenital and hereditary diseases today belongs to prenatal diagnostics, which makes it possible to prevent the birth of children with severe uncontrolled malformations, socially significant fatal genes, and chromosomal diseases. When providing medical care to children with severe congenital, combined pathology, it is important to discuss the issue of providing palliative care to children.An integral part of making therapeutic decisions about the type and method of medical care for a child is to consider the will of the parents, provided that the opinion of the parents is conscious and based on the comprehensive information received about all possible actions of medical professionals, indicating not only conducive but also adverse consequences in the long term of the life of the sick newborn.

Currarino-Silverman syndrome: diagnosis and treatment of rare chest wall deformity, a case series.

BackgroundCurrarino-Silverman (CS) syndrome is an extremely rare congenital deformity of the anterior chest wall. The syndrome is often combined with congenital heart defects and spinal abnormalities. As of currently, there is a lack of definite description in the literature about this type of pectus deformity. Typically, patients do not require surgical intervention for medical reasons, and the correction is usually only for cosmetic purposes. The purpose of this study was to demonstrate surgical intervention for CS syndrome at a tertiary care facility, and to summarize the available literature.MethodsPatients with CS syndrome were retrospectively reviewed from a period of June 2012 to August 2019. An extensive literature search for “Currarino-Silverman syndrome,” “pouter pigeon chest,” “chondromanubrial deformity,” “type 2 pectus carinatum” and “pectus arcuatum” was performed.ResultsFour clinical cases of CS syndrome are presented, two of which were symptomatic and corrected. The procedure of choice was the modified Ravitch-type thoracoplasty with double osteotomy and implantation of support plates.ConclusionsThere is no clear definition of CS syndrome in the literature. Correct and uniform classification plays a crucial role in the surgical treatment of this pathology. Due to the extreme rarity of the disease, challenging deformity, and variable anatomy of the fused sternum, there are no clear guidelines in treatment approaches. The correction is mostly pursued only for cosmetic results, and the best surgical option for CS syndrome remains the relatively aggressive Ravitch-type procedure with multi-level wedge osteotomy.

Role of different MRI sequences in evaluation of pediatric spinal dysraphism

ObjectiveThe aim was to assess type and extent of clinically evident or suspected spinal abnormalities by MRI and to compare different sequences for identifying nervous and fatty tissue in different abnormalities.BackgroundSpinal dysraphisms are congenital abnormalities of spine and spinal cord owing to faulty closure of midline structures. Imaging of spinal dysraphism should follow an organized approach and correlation between radiological, clinical, and developmental data should help in appropriate diagnosis. MRI is considered the best imaging modality for these abnormalities.Materials and MethodsPediatric patients aged 1 day till 2 years old, clinically evident or suspected to have spinal dysraphism, having back swelling, skin pigmentations, skin tags, hair tufts, hemangiomas of the back, criteria were included and underwent MR scan in Toshiba Excelart Vantage Titan (Japan) 1.5 Tesla MR Set with standard 16-channel head coil.ResultsOf 43 pediatric patients dated since birth till 2 years old with clinical evidence or suspicion of congenital spinal abnormalities for MRI scanning, spina bifida (41.9%), bony deformities (30.2%), tethered cord (27.9%), meningomyelocele (25.6%) were the commonest congenital spinal abnormalities. Neural tissues in the herniated thecal sac were detected in combination of three-dimentional half Fourier-acquired single-shot turbo spin echo (3D HASTE) sequence with turbo spin echo T1-weighted (TSE T1W) sequence in 15 patients, which was significantly high as compared with combinations of TSE T1W sequence with TSE T2 weighted (T2W), with short-time inversion recovery (STIR) and with single-shot myelographic sequence probability value of 0.03, 0.02, and 0.01, respectively. Fatty tissue was found in four cases, which were detected by a combination of STIR and TSE T1W sequences in all four patients.ConclusionPediatric spinal dysraphism and different spinal anomalies can be diagnosed by MRI scanning with excellent accuracy. STIR and 3D-HASTE sequences should be part of the examination protocol of spinal dysraphism.

Long-term results of hemivertebra excision: How does the spine behave after the peak of puberty?

Early hemivertebra (HV) excision and posterior spinal fusion (PSF) is advocated as the treatment of choice in congenital kyphoscoliosis. We assessed global spinal balance and spinal deformity status once the pubertal peak has taken place, in children with a history of HV excision and PSF at age younger than 5years. Twenty-seven children with congenital kyphoscoliosis without co-existing proximal/distal congenital spinal abnormalities who underwent HV excision and PSF of ≤ 5 levels at age younger than 5years and who had reached the peak of puberty at the last follow-up visit were evaluated. Twenty-seven HV excision were performed. Mean age at surgery was 3years and 2months. A mean of 3.2 segments were fused. Imbalance of the trunk was observed in 80% of thoracic and 75% of thoracolumbar HV excision. No arthrodesis technique (4 cases) presented 100% of spine decompensation. All children younger than 2years at the time of surgery developed spinal imbalance. Eighteen patients (67%) had global spine imbalance; 81% male population and 63% of the female population. Mean age at surgery was 3years + 2months. Mean age of the patients at the time of the study was 15years + 5months. Mean follow-up was 12years + 3months. Many of these patients developed spinal imbalance and scoliosis worsened at the final follow-up. Early age at surgery, preoperative scoliosis severity, HV location, no arthrodesis technique, and the adding-on phenomenon may be involved.

The crossed-leg position increases the dimensions within the acoustic target window for neuraxial needle placement in term pregnancy: a prospective observational study

IntroductionNeuraxial anesthesia in obstetric patients may be difficult to achieve due to anatomical changes in pregnancy. The crossed-leg position may help in optimizing patient position. We prospectively evaluated the utility of the crossed-leg position compared with a standard position using ultrasound measurements. MethodsThirty women with term singleton pregnancy admitted for vaginal delivery were recruited. Women with a history of spinal trauma or surgery, congenital spinal abnormality, advanced first stage of labor or a language barrier were excluded. Two anesthesiologists, blinded to each other’s measurements, scanned each subject in the crossed-leg position and standard position. Measurements of the lengths of the posterior longitudinal ligament, ligamentum flavum and interlaminar distance were recorded at the L3-L4 interspace. Comfort level in each position was scored on a Likert Scale. ResultsTwenty-nine women completed the study (complete data n=28). Significant increases were observed in the lengths of the posterior longitudinal ligament (mean difference 2.2 mm, 95% CI 1.3 to 3.2; P <0.001), ligamentum flavum (mean difference 1.4 mm, 95% CI 0.7 to 2.1; P <0.001) and interlaminar distance (mean difference 1.4 mm, 95% CI 0.4 to 2.5; P=0.006) in the crossed-leg position. No significant differences in comfort were observed. ConclusionWe demonstrated a significant increase in the sonographically measured lengths of the posterior longitudinal ligament, ligamentum flavum and interlaminar distance in the crossed-leg position when compared with the standard position. Both positions were comfortable. Further studies should explore whether these findings translate clinically into easier needle placement in the crossed-leg position.

Under pressure: Syringo-subarachnoid shunting and syrinx cyst videoscopy

BackgroundSyringomyelia is a well-known spinal cord pathology characterized by an intramedullary cyst that is often chronic and can be progressive. The earliest techniques of syrinx decompression began with simple aspiration after laminectomy and predated anatomic imaging. This was followed by early attempts at keeping communication open between the syrinx and the subarachnoid space using various materials as conduits, essentially creating the first attempts at syringo-subarachnoid shunting (SSS). Even in the modern era of high-quality anatomic imaging with MRI and use of modern materials as implants, novel ways to maintain communication between a syrinx cavity and the subarachnoid space continue to be reported. MethodsA total of 212 patients with imaging-proven syringomyelia presented to our center between 2014 and 2019 and were retrospectively reviewed. The majority of these patients (197) had an identifiable primary cause and surgical treatment was directed at the underlying condition. A total of 18 patients had a T-tube style SSS placed at our center using a K-tube shunt. The mean follow-up was 31.5 months, mean age was 38 years (2–59). The European Myelopathy Score (EMS) and Chicago Chiari Outcome Scale (CCOS) were used to categorize outcomes and progress in these 18 patients. Also we report clinical case to demonstrate technique of K-tube use for syringo-subarachnoid shunting and potential abilities of inner syrinx cyst videoscopy for treatment of syringomyelia in 2-year-old patient with multiple congenital vertebral and spinal cord abnormality. ResultsAmong 16 patients available for follow-up 4 patients (25%) had neurological improvement, 12 patients (75%) remained clinically stable, and no patient had a neurological deterioration based on EMS. Using the CCOS 8 patients (50%) improved, 7 patients (44%) remained stable, and 1 patient (6%) worsened during in the follow-up period. Complications occurred in six patients (33%). Two patients had gait ataxia. Two patients developed postoperative meningitis treated successfully with antibiotics leaving the shunt in place. One patient had a CSF leak successfully treated with a lumbar drain. One patient developed a new pain syndrome. There was no mortality, shunt migration/malposition or reoperation. ConclusionsSyringo-subarachnoid shunting is a well-known and well-described procedure used as “second-line” treatment of syringomyelia worldwide. Our results are consistent with others and make this another surgical option if treatment of a primary source fails or no primary source of the syrinx is found. Our series of 18 patients using a T-tube style SSS adds another good option to those already in use. Recurrence or deterioration following syringomyelia shunting remains a problem and further refinement of technique remains an ongoing process. Syrinx inner videoscopy seems to be safe procedure with possible application to simplify the anatomy of cyst and liquid flow relief.

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.

Prenatal diagnosis of fetal hemivertebra in the first trimester

Abstract Hemivertebra is a congenital spinal abnormality. The condition may affect one or multiple vertebrae. Hemivertebra occurs because of malformations or absence of the ossification centers. Most cases reported in the literature are diagnosed in the second trimester, usually after 22 weeks. It is very unusual and difficult for the hemivertebra to be detected at the first trimester.

Vertebral formula and congenital abnormalities of the vertebral column in rabbits

The aim of this retrospective study of 330 rabbits (164 males, 166 females) was to determine different vertebral formulas and prevalence of congenital vertebral anomalies in rabbits from radiographs of the cervical (C), thoracic (Th), lumbar (L) and sacral (S) segments of the vertebral column. The number of vertebrae in each segment of vertebral column, position of anticlinal vertebra and localisation and type of congenital abnormalities were recorded. In 280/330 rabbits (84.8%) with normal vertebral morphology, seven vertebral formulas were identified: C7/Th12/L7/S4 (252/330, 76.4%), C7/Th12/L6/S4 (11/330, 3.3%), C7/Th13/L7/S4 (8/330, 2.4%), C7/Th12/L7/S5 (4/330, 1.2%), C7/Th12/L8/S4 (3/330, 0.9%), C7/Th12/L7/S6 (1/330, 0.3%) and C7/Th11/L7/S4 (1/330, 0.3%). The anticlinal vertebra was identified as Th10 in 56.4% of rabbits and Th11 in 42.4% of rabbits. Congenital spinal abnormalities were identified in 50/330 (15.2%) rabbits, predominantly as a single pathology (n=44). Transitional vertebrae represented the most common abnormalities (n=41 rabbits) in the thoracolumbar (n=35) and lumbosacral segments (n=6). Five variants of thoracolumbar transitional vertebrae were identified. Cervical butterfly vertebrae were detected in three rabbits. One rabbit exhibited three congenital vertebral anomalies: cervical block vertebra, thoracic hemivertebra and thoracolumbar transitional vertebra. Five rabbits exhibited congenital vertebral abnormalities with concurrent malalignment, specifically cervical kyphosis/short vertebra (n=1), thoracic lordoscoliosis/thoracolumbar transitional vertebrae (n=1), thoracic kyphoscoliosis/wedge vertebrae (n=2) and thoracolumbar lordoscoliosis/thoracolumbar transitional vertebrae/lumbosacral transitional vertebrae (n=1). These findings suggest that vertebral columns in rabbits display a wide range of morphologies, with occasional congenital malformations.

Management of split cord malformation in children: the Lyon experience.

Split cord malformation (SCM) is a rare congenital spinal abnormality. Clinical presentation varies. Other congenital defects can be associated. Management is surgical. We retrospectively reviewed all our SCM cases and reported our experience for its management. From 1990 to 2014, 37 patients were operated. Five situations lead to the diagnosis (orthopedic disorders (n = 8), orthopedic and neurological disorders (n = 16), pure neurological disorders (n = 5), no symptoms except cutaneous signs (n = 7), antenatal diagnosis (n = 1)). Scoliosis was the most common associated condition. The level of the spur was always under T7 except in one case. There were more type I (n = 22) than type II (n = 15) SCM. Patients with preoperative neurological symptoms (n = 21) were improved in 71.4%. Five out of nine patients that had preoperative bladder dysfunction were improved. Eleven patients needed surgical correction of the scoliosis. For us, the surgical procedure is mandatory even in case of asymptomatic discovery in order to avoid late clinical deterioration. In any case, the filum terminale need to be cut in order to untether completely the spinal cord. In case a surgical correction of a spinal deformity is needed, we recommend a two-stage surgery, for both SCM type. The SCM surgery can stop the evolution of the scoliosis and it may just need an orthopedic treatment with a brace.

Generation of Induced Pluripotent Stem Cells and Neural Stem/Progenitor Cells from Newborns with Spina Bifida Aperta.

Study DesignWe established induced pluripotent stem cells (iPSCs) and neural stem/progenitor cells (NSPCs) from three newborns with spina bifida aperta (SBa) using clinically practical methods.PurposeWe aimed to develop stem cell lines derived from newborns with SBa for future therapeutic use.Overview of LiteratureSBa is a common congenital spinal cord abnormality that causes defects in neurological and urological functions. Stem cell transplantation therapies are predicted to provide beneficial effects for patients with SBa. However, the availability of appropriate cell sources is inadequate for clinical use because of their limited accessibility and expandability, as well as ethical issues.MethodsFibroblast cultures were established from small fragments of skin obtained from newborns with SBa during SBa repair surgery. The cultured cells were transfected with episomal plasmid vectors encoding reprogramming factors necessary for generating iPSCs. These cells were then differentiated into NSPCs by chemical compound treatment, and NSPCs were expanded using neurosphere technology.ResultsWe successfully generated iPSC lines from the neonatal dermal fibroblasts of three newborns with SBa. We confirmed that these lines exhibited the characteristics of human pluripotent stem cells. We successfully generated NSPCs from all SBa newborn-derived iPSCs with a combination of neural induction and neurosphere technology.ConclusionsWe successfully generated iPSCs and iPSC-NSPCs from surgical samples obtained from newborns with SBa with the goal of future clinical use in patients with SBa.

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. Level III.

Intradural Intramedullary Teratoma Presenting in the Lumbar Spine: Report of a Rare Case

Intradural teratomas are an exceedingly unusual phenomenon. They are tumors with the cellular constituent source of all the 3 germ cell layers. We here report a case of an 18-year-old man with special pathologic features. There was no history of spinal dysraphism, congenital spinal abnormalities, previous spinal surgery, or lumbar puncture. Lumbosacral spine magnetic resonance imaging revealed a well-delineated, intramedullary mass at the L2-3 level. Histopathology examination of the resected tumor revealed cystic spaces lined with simple columnar epithelium as well as mucus secreting epithelium, adipose tissue, salivary gland-like serous cells, and bundles of smooth muscle cells. We have seen unusual histopathologic features in the case, for example, there were no cartilage components that are mostly found in mature teratomas, abundant Pacinian corpuscle nerve endings, and nerve trunks. There were no immature elements or malignant cells. Teratomas should be taken into consideration in the differential diagnosis of intramedullary lesions, even after the imaging reveals tissue homogeneity.

CLOVES Syndrome: Severe Neonatal Presentation.

Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal Abnormalities (CLOVES syndrome) is a newly described and rare overgrowth disorder with serious morbidity. The course of this disease is not well understood and few cases have been reported among neonates. Moreover, not all of the signs of this syndrome are present at birth, making a high index of suspicion necessary. We present a cohort of three newborns with CLOVES syndrome who died due to septic and hemodynamic complications directly related to extensive vascular malformations. We discuss the clinical presentation in the neonatal period and propose a clinical classification.

P82 - Incidence of Congenital Spinal Abnormalities among Pediatric Patients and Their Association with Scoliosis and Systemic Anomalies

P82 - Incidence of Congenital Spinal Abnormalities among Pediatric Patients and Their Association with Scoliosis and Systemic Anomalies