Sacral Agenesis Research Articles

Cervical Myelomeningocele associated with Chiari II and Caudal Regression Syndrome

Myelomeningocele (MMC) is an open spinal dysraphism that results from faulty primary neurulation due to defective closure of the neural tube [1,2]. It usually involves the lower lumbar and sacral regions and is rare in cervical and upper thoracic spine [2]. MMC is often associated with hydrocephalus and Chiari II malformation, which involves cerebellum, brain stem, skull base and spine [2]. Caudal regression syndrome (CRS) is a rare and sporadic neural tube defect that affects distal spinal segments and causes maldevelopment of the spinal cord, with etiology still uncertain, although it may be associated with maternal diabetes, genetic factors and hypoperfusion [3]. Other cases of meningocele associated with CRS have been reported [4], however, as far as we know, there is no report of cervical MMC in association with CRS. We illustrate the case of a female child, born by cesarean section, at term (38w1d), who presented cervical/upper thoracic myelomeningocele associated with caudal regression syndrome (Fig. 1) and Chiari II (Fig. 2). On physical examination, the patient was hydrated, active, reactive, normal-colored, anicteric, with congenital clubfoot (talipes equinovarus) on the left and vertical talus on the right, with hypotrophy of the left lower limb. Abdominal ultrasound showed mild hydronephrosis, and cystourethrography was suggestive of neurogenic bladder. The echocardiogram showed ostio secundum atrial septal defect measuring 2.3 mm. The electroencephalogram did not show significant alterations. Her mother had a history of toxoplasmosis and pre-eclampsia during pregnancy. According to Renshaw’s classification, the patient was defined as type II, which refers to partial sacral agenesis with a bilaterally symmetrical defect, a normal or hypoplastic sacral vertebra, and a stable articulation between the ilia and first sacral vertebra [5]. LEGENDS: MRI image of cervical, thoracic and lumbar spine in sagittal section, T2-weighted, shows spinal dysraphism with defective posterior elements at the level of the cervical-thoracic transition (C7-D2), with myelomeningocele (bracket) (A). Conus medullaris showing increased thickness, with abrupt ending (arrow) (A). Hypoplastic sacrococcygeal vertebrae, a finding suggestive of caudal regression syndrome (A). T2-Weighted MRI images of the cervical spine in sagittal (B) and axial (C) planes, show herniation of neural tissue and meninges through an open spinal dysraphism, compatible with myelomeningocele. Brain MRI images in post-contrast T1-weighted sequences in sagittal plane show findings suggestive of Chiari II malformation: small posterior fossa, inferior displacement of the cerebellar tonsils through the foramen magnum, small 4th ventricle and supratentorial hydrocephalus (D,E). Axial Brain MRI T1-weighted (F) and T2-weighted (G) sequences show a colpocephalic pattern of the supratentorial ventricular system.

Relationship of Sirenomelia with Gestational Diabetes Mellitus and Hypothyroidism

Sirenomelia is a rare congenital structural anomaly characterized by developmental disorders of the caudal region. Abnormalities observed in sirenomelia constitute the most severe form of caudal regression syndrome (CRS). It can be diagnosed by antenatal ultrasonography. The present study aimed to discuss a case with sirenomelia born from a mother with a history of gestational diabetes mellitus (GDM) and hypothyroidism. The present study is the first case report in the literature in which maternal hypothyroidism and sirenomelia were found simultaneously.

The importance of dedicated colorectal team participation in the management of spina bifida and spinal cord injury patients.

In September 2020, the colorectal team of the International Center for Colorectal and Urogenital Care joined the spina bifida and spinal cord injury multidisciplinary clinic at Children's Hospital Colorado. Many important lessons were learned. A retrospective review of patients seen in the spina bifida and spinal cord injury multidisciplinary clinic from September 2020 to May 2021 was conducted. Data collected included demographics, diagnosis, pre or post-natal repair for those with myelomeningocele, whether the patient was previously seen by the colorectal team, wheelchair usage, voluntary bowel control vs. fecal incontinence, urinary control vs. clean intermittent catheterization, characteristics of contrast enema, and our proposed intervention. Overall, 189 children were seen during the study period, ranging from 3months to 20years of age (average = 9.5years). One hundred and two were males and 87 were females. Diagnosis included myelomeningocele (n = 153), spinal cord injury (n = 18), transverse myelitis (n = 7), sacral agenesis (n = 5), diastematomyelia (n = 2), spinal stenosis (n = 2), and tethered cord with lipoma (n = 2). Fifteen patients with myelomeningocele were repaired in-utero. One hundred and sixty patients were new to the colorectal team. Eighty-one patients were wheelchair users. One hundred and twenty-three patients suffered from fecal incontinence and needed enemas to be artificially clean for stool and thirty-eight patients had voluntary bowel movements and were clean with laxatives, suppository, or rectal stimulations. Twenty-eight patients were younger than three years of age and still in diapers. Despite a non-dilated colon on contrast enema, this population has a hypomotile colon. One hundred and twenty-eight patients required clean intermittent catheterization. Joining the spina bifida and spinal cord injury multidisciplinary clinic allowed us to better serve this population and gave us enormous satisfaction to contribute to improve the quality of life of the patients and their parents. III.

VP15.08: First trimester diagnosis of body stalk anomaly

Body stalk anomaly is a lethal and complex abdominal wall defect. The exact pathophysiology and trigger factors of this rare, multisystem severe malformation syndrome are still unknown. We present case of an 18-year-old primigravida who was referred for nuchal translucency scan. Examination revealed an abnormal location of the abdominal contents of the fetus in the coelomic space. Stomach, liver, small bowel loops and dilated urinary bladder were seen protruding out of the abdominal wall defect into the coelomic space. Remaining fetus was in amniotic cavity. A short umbilical cord running through the amniotic membrane was noted. Other findings included asymmetric ventriculomegaly, sacral agenesis and kyphoscoliosis. Rest of the fetus appeared normal for gestation. These ultrasonographic findings were consistent with body stalk anomaly. This severe malformation being incompatible with life, the patient decided for termination of pregnancy. Pathologic examination confirmed the suspected diagnosis of body stalk anomaly. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

Lumbosacral Nevus Simplex in a Newborn Girl with an Asymmetrical Y-Shaped Gluteal Cleft

VP13.06: First trimester diagnosis of Sirenomelia associated with an abdominal cyst

Sirenomelia or the mermaid syndrome is a rare and lethal congenital anomaly. It is characterised by fusion of lower extremities associated with genitourinary, anorectal and cardiovascular anomalies. Pathognomic finding is a single umbilical artery, the persistent' vitelline artery' connected directly to aorta. Sirenomelia has strong association with maternal diabetes mellitus. We report the first trimester diagnosis of Sirenomelia associated with abdominal cyst. It was type VII Sirenomelia. Abdominopelvic cyst was extending from pelvis up to stomach bubble. Other associated findings included a single umbilical artery originating from Aorta, Sacral agenesis, absent ductus venosus with umbilical vein directly opening in right atrium. Urinary bladder was persistently non visualised. Autopsy confirmed the abdominal cyst to be blind ended cloaca. A small tubular bladder and distal colon were connected to this cloaca. Kidneys were normal and ureters were opening in the cloaca. External genitalia and anal opening were absent. Karyotype was normal. Protocol-based anatomic evaluation aids the first trimester diagnosis of Sirenomelia and associated anomalies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

Caudal Regression Syndrome

Caudal Regression Syndrome (CRS) is a rare malformation syndrome associating to varying degrees agenesis of the coccygeal or lumbosacral vertebrae.This vertebral anomaly can therefore be reduced clinically to a simple coccygeal agenesis without any deficit or even lumbosacral agenesis accompanying a clinical picture with sphincter disorders associated or not with transit disorders and various deficits involving the lower limbs.This syndrome is accompanied by other orthopedic malformations such as shortening of the lower limbs, and / or gastrointestinal abnormalities, see also genitourinary as well as cardiovascular.Its incidence is 1 to 5 cases per 100,000 births. Its precise cause has not yet been identified, but its relationship to maternal diabetes is well established. We report in our study 5 patients with CRS from different clinics whose sphincter disorders were found in the foreground in all our patients and whose results vary according to the inaugural clinical picture. MRI made it possible to refine and confirm the diagnosis highlighting the congenital anomaly and the associated lesions.We have obtained 75% good results and 25% clinical stabilization; nor do we deplore any case of aggravation or death. The interest is to suspect the diagnosis of CRS; document it at the start of the prenatal period and determine its severity and associated abnormalities in order to present options for patient management; because once the diagnosis is made, surgical treatment becomes imperative due to the formidable neurological sequelae compromising the functional prognosis.

Asymptomatic bacteriuria and antibiotic resistance profile in children with neurogenic bladder who require clean intermittent catheterization

A retrospective cohort study. To document the prevalence of asymptomatic bacteriuria and to characterize the resistance patterns to antibiotics among children with neurogenic bladder who require clean intermittent catheterization, with an emphasis on multidrug resistance. A national referral pediatric and adolescent rehabilitation facility in Jerusalem, Israel. Routine urine cultures were collected before urodynamic studies in suitable individuals during 2010-2018. None of them had symptoms of urinary tract infection at the time of specimen collection. Cultures were defined as being positive if a single bacterial species was isolated together with a growth of over 105 colony-forming units/ml. Resistance patterns were defined as extended-spectrum beta-lactamase (ESBL) and resistant to 3 antimicrobial groups (multi-drug resistant, MDR). In total, 281 urine cultures were available for 186 participants (median age 7 years, range 0.5-18). Etiologies for CIC included myelomeningocele (n = 137, 74%), spinal cord injury (n = 16, 9%) and caudal regression syndrome (n = 9, 5%). Vesicoureteral reflux was diagnosed in 36 participants (19%), 14 of whom were treated with prophylactic antibiotics. Asymptomatic bacteriuria was present in 217 specimens (77%, 95%CI [0.72-0.82]). The bacteria species were E. coli (71%), Klebsiella (13%), and Proteus (10%). ESBL was found in 11% of the positive cultures and MDR in 9%, yielding a total of 34 (16% of positive cultures) positive for ESBL and/or MDR bacteria. Asymptomatic bacteriuria and resistance to antimicrobials are common in pediatric individuals who require CIC.

147. Spine anomalies in fetus–diagnosis and incidence: A retrospective study of 10,000 consecutive fetal scans

<h3>BACKGROUND CONTEXT</h3> Looking for spinal anomalies is now an integral part of most prenatal ultrasound evaluations worldwide. However, we have very few published figures relating to the incidence and types of spinal anomalies from a prenatal scan. Here we look into how big this spectrum of disease is in the context of India and which anomalies can commonly be identified and how often are they identified at a tertiary care center. <h3>PURPOSE</h3> The purpose of the study was to find the incidence of various spine anomalies in the fetus and to evaluate the scope of early diagnosis in the management of these anomalies. <h3>STUDY DESIGN/SETTING</h3> Retrospective study. <h3>PATIENT SAMPLE</h3> This study included 10,000 consecutive fetal scans done at a single tertiary care center. <h3>OUTCOME MEASURES</h3> All patients having spinal bony and cord anomalies were included in the study. <h3>Methods</h3> We report the results of 10,000 consecutive prenatal ultrasound scans specifically with respect to the incidence and distribution of spinal anomaly. <h3>Results</h3> Out of 10,000 patients studied, 89 (0.008%) were diagnosed with spine and spinal cord anomalies.Of these 89 patients, 57 had spinal dysraphism, 10 had one or more level of hemivertebra, 9 patients presented with intra-uterine scoliosis, and 22 with kyphosis. Sacral agenesis was present in 7 of these patients <h3>Conclusions</h3> This is the first study to evaluate the incidence of prenatal diagnosis of spinal anomaly. Prenatal information will be of great value to spine surgeons as well as parents for counseling and planning treatment. A team approach comprising a spine surgeon, a fetal medicine expert and an obstetrician in all cases should be the order of the day. <h3>FDA DEVICE/DRUG STATUS</h3> This abstract does not discuss or include any applicable devices or drugs.

A Case Report of a Colorectal and Caudal Duplication Syndrome Associated with Caudal Regression Syndrome

We describe an uncommon clinical presentation of caudal duplication syndrome and features of caudal regression syndrome in a female infant with complex urogenital and colorectal duplication associated with lipomyleomeningocele and left lower limb hypoplasia. A staged surgical treatment plan was carried out to maintain fecal and urine continence, potential fertility, and cosmetic appearance.

Sacral Agenesis- Its Urological Impact and Management

Sacral Agenesis- Its Urological Impact and Management

Caudal regression sequence: A costly vascular steal

Caudal regression sequence: A costly vascular steal

Currarino Syndrome: lower urinary tract function, treatment plan and outcomes

Currarino syndrome (CS) is a rare congenital disorder characterized by anorectal malformation, sacral agenesis and presacral mass. We performed video-urodynamics (VUDS) assessment of patients with CS to characterize the lower urinary tract function, individualize management plans and to follow outcomes. We conducted a cross-sectional study on 11 patients diagnosed with CS at the spina bifida multidisciplinary clinic. Lower urinary tract function was assessed by VUDS from three months to 12 months after neurosurgery. All patients had sacral agenesis; nine patients had anorectal malformation (9/11, 81.8%) and five patients had a presacral mass (5/11, 45.5%). The average age at neurosurgery was 7.9 months (range, 2–19). One patient had bilateral vesicoureteral reflux (VUR) with increasing detrusor pressure at the end of filling. In two patients, the detrusor activity showed weakening during urination, while no other lower urinary tract abnormality was identified on urodynamic evaluation. Six patients underwent VUDS before and after surgery; of these, two patients showed improved bladder function after surgery, while the remaining four patients showed no change in urodynamics. The average duration of follow-up was 27.5 months (range, 9–51). Renal function was normal in all patients. We can conclude that patients with CS often exhibit associated neurological abnormalities. VUDS assessment may help detect lower urinary tract dysfunction at an early stage and facilitate timely urological intervention to avoid kidney damage.

Occurrence of rod fracture and salvage methods after primary surgery of the congenital lumbosacral deformity associated with sacral agenesis

Objective: To analyze the occurrence of rod fracture after surgery for lumbosacral deformity associated sacral agenesis and discuss the relevant salvage methods. Methods: The clinical records of 19 patients who underwent surgical treatment for lumbosacral deformity associated sacral agenesis from January 2001 to January 2018 were retrospectively reviewed, including 11 boys and 8 girls. The average age was (9.6±5.2) years. The outcomes of surgical correction and internal fixation were evaluated by postoperative regular follow-up. We also recorded the time and position of rod fracture occurrence. The Cobb angle, coronal balance and sagittal balance were measured and compared to analyze the corresponding salvage methods and revision outcomes. Results: Three patients encountered rod fracture during follow-up, so the incidence of rod fracture after surgery for lumbosacral deformity associated sacral agenesis was 15.8%(3/19). Based on their own conditions, we formulated the individualized strategy and performed the revision surgery through the posterior-only approach. The most critical step was abundant bone-grafting and fusion in the defected sacroiliac joint. After revision, the scoliotic Cobb angle improved in two patients (91.5° vs 47.5°, 49.0° vs 28.0°) and coronal balance improved in one patient (40.3 mm vs 24.3 mm). No complication reoccurred during follow-up. Conclusion: The rod fracture after surgery for lumbosacral deformity associated sacral agenesis is quite common, which is probably correlated with its unique deformed structure and biomechanical characteristics. The individualized salvage methods and adequate bone-grafting and fusion for the defected sacroiliac joint will guarantee the reconstruction and maintenance of spine balance after revision.

Different distal fixation anchors in lumbosacral spinal deformities associated with sacral agenesis: which one is better?

Sacral agenesis (SA) is a rare congenital malformation of the spine. There has been a paucity of clinical research to investigate the surgical outcome of spinopelvic fixation in these patients. In this study, the authors aimed to evaluate the outcome of different distal fixation anchors in lumbosacral spinal deformities associated with SA and to determine the optimal distal fixation anchor. Patients with diagnoses of SA and lumbosacral scoliosis undergoing spinopelvic fixation with S1 screws, iliac screws, or S2-alar-iliac (S2AI) screws were analyzed. The main curve, coronal balance distance, and pelvic obliquity were compared at baseline, postoperatively, and during follow-up in three groups. The complications were also recorded. A total of 24 patients were included: 8 patients were stratified into group 1 (S1 screws), 9 into group 2 (iliac screws), and 7 into group 3 (S2AI screws). The main curves were well corrected postoperatively (p < 0.05) in all groups. Coronal balance showed a tendency of deterioration during follow-up in patients with S1 screws (from 18.8 mm to 27.0 mm). Regarding pelvic obliquity, patients with both iliac and S2AI screws showed significant correction (from 3.7° to 2.3° and from 3.3° to 1.6°). Implant-related complications were rod breakage in 3 patients and infection in 1 patient in group 2, and no implant-related complications were observed in group 3. There were 3 cases of unilateral S1 pedicle screw misplacement in group 1. Spinopelvic fixation is a safe and effective procedure that can achieve coronal correction in lumbosacral scoliosis associated with SA. Compared with S1 and iliac screws, S2AI screws as distal fixation anchors can achieve a more satisfactory correction with fewer implant-related complications.

Sirenomelia: two case\xa0reports

BackgroundSirenomelia, also called mermaid syndrome, is a rare lethal multi-system congenital deformity with an incidence of one in 60,000–70,000 pregnancies. Sirenomelia is mainly characterized by the fusion of lower limbs and is widely associated with severe urogenital and gastrointestinal malformations. The presence of a single umbilical artery derived from the vitelline artery is the main anatomical feature distinguishing sirenomelia from caudal regression syndrome. First-trimester diagnosis of this disorder and induced abortion may be the safest medical option. In this report, two cases of sirenomelia that occurred in an white family will be discussed.Case presentationWe report two white cases of sirenomelia occurring in a 31-year-old multigravid pregnant woman. In the first pregnancy (18 weeks of gestation) abortion was performed, but in the third pregnancy (32 weeks) the stillborn baby was delivered by spontaneous vaginal birth. In the second and fourth pregnancies, however, she gave birth to normal babies. Three-dimensional ultrasound imaging showed fusion of the lower limbs. Neither she nor any member of her family had a history of diabetes. In terms of other risk factors, she had no history of exposure to teratogenic agents during her pregnancy. Also, her marriage was non-consanguineous.ConclusionThis report suggests the existence of a genetic background in this mother with a Mendelian inheritance pattern of 50% second-generation incidence in her offspring.

КАУДАЛЬНАЯ РЕГРЕССИЯ И VACTERL-АССОЦИАЦИЯ У РЕБЕНКА ОТ МНОГОПЛОДНОЙ БЕРЕМЕННОСТИ (ДВОЙНЯ), НАСТУПИВШЕЙ ПОСЛЕ ПРИМЕНЕНИЯ ВСПОМОГАТЕЛЬНЫХ РЕПРОДУКТИВНЫХ ТЕХНОЛОГИЙ

The article presents a case of a very rare malformations combination in a child born from multiple pregnancy (twins) after in vitro fertilization. The premature boy was born the second at 35,4 weeks by caesarean section for premature membranes rupture. The child had malformations of the thoracic vertebrae, ribs, kidneys and urinary system, esophageal atresia with tracheoesophageal fistula, characteristic for VACTERL association. At the same time, other anomalies of the sacral spine, lower extremities and lower urinary tract matched the classic caudal regression syndrome. The data obtained in recent years indicate that abnormalities in the same genes can cause VACTERL association and caudal regression syndrome. The standard approach in the treatment of such patients involves surgical correction of abnormalities to provide adequate vital functions of gas exchange, hemodynamics and digestion. The clinical observation published in this study demonstrates the success of this approach in a patient with a combination of VACTERL association and caudal regression syndrome.

Role of urodynamics in male patients of high-anorectal malformations: a prospective study.

Association of spinal or vertebral anomalies and the iatrogenic denervation during surgical correction of anorectal malformation patients especially in boys can lead to neurogenic bladder inthese subset of patients. The paucity of literature with regard to urodynamic studies focusing exclusively in male children with high-anorectal malformations (HARM) lead us to analyze the urodynamic changes. The objective was to study urodynamic profile in male patients who have undergone surgery for anorectal malformation. Male high-anorectal malformation patients who had completed all the stages of repair were prospective studied. Following the basic work up, all patients based on the urodynamics were categorized into 2 groups as safe or unsafe bladders. Unsafe bladder was defined as detrusor pressure > 40cm (high detrusor pressure) or pressure variability of 15cm of water (detrusor overactivity) or significant post-void residue. MRI was limited to patients with only abnormal urodynamics to rule out spinal causes of neurogenic bladder and due to financial constraints, it could not be offered to all patients. 41 HARM meet the exclusion criteria. All patients were asymptomatic with none having history of urinary tract infections. Ultrasound showed bladder wall thickening in 31.7% patients. UDS revealed reduction in bladder capacity and compliance was noted in 31.7% and 30% patients, respectively. Elevated detrusor pressures (> 40cm of water) were noted in 10% (4/41), detrusor overactivity with concomitant elevated detrusor pressures in 19.5% (8/41) and normal UDS in 70% (29/41). 13 patients (31.7%) had abnormal cystometric parameters with 12(30%) having unsafe bladders. MRI confirmed sacral agenesis in 1 patient with unsafe bladder. Urodynamics can demonstrate occult neurovesical dysfunction in patients with HARM. This would help in early renal protective therapy and prevent the burden of long-term sequelae of neurovesical dysfunction in HARM patients.

A review of adopted colorectal patients: a parent's perspective.

After treating many adopted patients with congenital colorectal conditions, our goal was to understand if parents were properly counseled about their child's medical needs before adoption. A comprehensive questionnaire was developed. Recruitment occurred by social media and colorectal database. 48 parents participated. Adopted children were primarily male (60%), internationally adopted (75%), and a median age of 2.5years (range newborn-13yo). While 96% of parents received medical records, 41% had incorrect/missing information. Most patients had an anorectal malformation (83%, Table 1), and a third had the primary pull-through prior to adoption (16). Nearly all required a surgical procedure after adoption (87%), including a redo pull-through (19%). Children were frequently incontinent of stool (83%) and urine (46%). In some families, the medical condition negatively affected the relationship between the parent and adopted child (12.5%), parent and other siblings (40.5%), and adopted child and other siblings (19%). 58% of parents state managing their child's medical condition was more difficult than anticipated. Family, friends, and the medical team was noted as the most helpful support systems. Table 1 Colorectal diagnoses Diagnosis Number of Participants Percentage (%) ARM (Unknown) 11 23 Cloaca 8 17 Cloacal Exstrophy 4 8 ARM No Fistula 3 6 Rectobulbar Fistula 3 6 Rectovestibular Fistula 3 6 Hirschsprung's Disease 3 6 Rectoprostatic Fistula 2 4 Spina Bifida 2 4 Rectoperineal Fistula 1 2 Rectovaginal Fistula 1 2 Rectobladderneck Fistula 1 2 Complex Malformation 1 2 Rectal Atresia 1 2 Rectal Stenosis 1 2 Idiopathic Constipation 1 2 Sacral Agenesis 1 2 Sacrococcygeal Teratoma 1 2 CONCLUSION: We strongly recommend putting support systems in place, obtaining as much medical information as possible, preparing for possible lifelong management, and consulting with a specialized colorectal team before adoption.

Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.