Sacral Agenesis Research Articles

Bladder perforation after augmentation cystoplasty: Determining the best management option

Delayed bladder perforation is a well-described complication after augmentation cystoplasty. Although the frequency, risk factors, and diagnostic challenges are well documented, discussions regarding management strategies are sparse. We evaluated our experience of managing augmented bladder perforation to interrogate the hypothesis that non-operative management can be used effectively. We retrospectively evaluated the management of 10 patients with augmented bladder perforations over a 16-year period (Jan 2000-Jan 2016). Patients who demonstrated clinical deterioration, severe peritonitis, or extensive extravasation on imaging underwent exploratory laparotomy and primary closure. Clinically stable patients with minimal extravasation were managed non-operatively with maximal bladder drainage, and those with loculated fluid collections in feasible locations for drainage underwent an image-guided percutaneous drain placement. Underlying diagnoses included four patients with myelomeningocele, three with sacral agenesis, two with spinal cord injuries, and one with bladder exstrophy. Three of the four patients with myelomeningocele had concomitant ventriculoperitoneal shunts. Six patients had continent catheterizable channel creation and two patients had bladder neck reconstructions during the original operation. Four patients were managed with exploratory laparotomy and primary closure. Among the six patients managed non-operatively, three underwent image-guided drain placement in addition to maximal bladder drainage. Four patients developed re-perforation. Two of the four surgically managed patients developed re-perforation. Two of the three patients managed only with maximal bladder drainage developed re-operation. None of the patients managed non-operatively with drain placement suffered from re-perforation. Four perforation episodes were alcohol-related, two occurred after high-impact sporting activity, and two patients reported non-compliant catheterization. Non-operative management with maximal bladder drainage and selective image-guided drain placement can be successfully deployed in clinically stable patients with limited extravasation. Ensuring low intraluminal detrusor pressures and empty bladder with maximal drainage is critical for spontaneous sealing of the perforation site. Exploratory laparotomy and primary closure remains our approach for those presenting with clinical deterioration or significant extravasation on imaging. The majority of our perforations and re-perforation episodes seemed to stem from preventable behavioral risk factors. Our findings support the hypothesis that non-operative management with maximal bladder drainage and image-guided drain placement can be effective in stable patients with limited extravasation.

Right-sided InterStim Placement in a Patient With Left Sacral Hypoplasia

Sacral hypoplasia is a rare anomaly and the least severe pattern of caudal regression syndrome as described by the Renshaw classification system. These patients may suffer from bladder or bowel dysfunction. Here, we present a successful case of right InterStim placement for the treatment of refractory urinary urgency, frequency, and urinary incontinence in a patient with left sacral hypoplasia.

MURCS association and anorectal malformation: Case report of a female newborn

Abstract MURCS association is rare, first described by Duncan et al. in 1979, including Mullerian duct aplasia, renal aplasia and cervicothoracic somite dysplasia. Levitt and Pena described in 2007 a classification of syndromic anorectal malformation (ARM) that associates these two entities. The reported case is the first one described in neonatal period. We describe a case of a female newborn with suspected diagnosis of anorectal and renal malformations. Physical and radiologic investigation revealed agenesis of sacrum and coccyx, tethered cord, left multicystic renal dysplasia, absence of vaginal orifice and hymen, normally placed urethral orifice and abnormal anal opening at the vaginal introitus as a rectovestibular type fistula. Also, she had right uterine, tube and ovary agenesis with a normal 46, XX female karyotype. A left diversing colostomy was done in first day of life and four months later, was performed a posterior sagittal anorectoplasty (PSARP), with intra-operative identification of a duplication of the distal rectum (related with caudal regression syndrome type 2). There were no complications in postoperative period. A staged management strategy is a viable option avoiding further complications in an already poor prognosis situation.

Magnetic Resonance Imaging in Paediatric Spinal Dysraphism with Comparative Usefulness of Various Magnetic Resonance Sequences.

Spinal dysraphism occurs due to failure of fusion of parts along dorsal aspect of midline structures lying along spinal axis from skin to vertebrae and spinal cord. Congenital spinal anomalies may be minimal and asymptomatic like spinal bifida occulta, or severe with marked neurological deficits like Arnold-Chiari malformation or caudal regression syndrome. Magnetic Resonance Imaging (MRI) is the modality of choice to diagnose mild to severe spinal dysraphism. To diagnose type and extent of clinically suspected spinal anomalies by MRI scan and to compare various sequences for identifying neural tissue and fatty tissue in anomalies. Fifty paediatric patients referred with clinical suspicion of spinal anomalies for MRI scan to radiodiagnosis department and diagnosed as having spinal dysraphism on 1.5 Tesla MRI Scan, were included in this observational analytic study. Various MRI sequences were taken in multiple planes. MRI findings of spinal dysraphism were compared with detailed clinical examination or surgical findings. Osseous anomalies like spina bifida occulta were confirmed by radiographs or CT scan. Out of 50 patients, type II Arnold-Chiari Malformation (34%), Spina Bifida Occulta (22%) and Diastematomyelia (18%) were common anomalies. MRI findings were well correlated with surgical findings in 20 operated cases. Nerve roots with/ without neural placode in thecal sac/outpouching were detected in combination of 3D HASTE myelographic sequence with SE/ TSE T1W sequence in 24 cases; which was significantly high as compared to combinations of SE/TSE T1W sequence with TSE T2W, with STIR and with Single Shot Myelographic sequence {p-value 0.002, < 0.001 and 0.008 respectively}. Fatty component was present in dysraphism in five cases, commonly as isolated anomaly; which was detected by combination of STIR and SE/TSE T1W sequences in all five cases. Paediatric spinal dysraphism and associated malformations are accurately diagnosed on MRI scan. MR myelographic 3D-HASTE and STIR sequences should be a part of protocol to evaluate spinal dysraphism.

Achieving Full Anatomical Correction in Girls with cloacal anomalies: A Necessity or an Overdoing?

Purpose: To highlight a different concept for the urogenitoplasty in the management of cloaca and its possible implications on functional and cosmetic outcome.Patients and Methods: The study included six cases of cloaca who were recently managed during the period 2011 through 2015. Regarding urogenitoplasty, two cases with low urogenital confluence had a short common channel and were managed by introitoplasty in one and partial urogenital sinus mobilization in the other. One case with high distended vagina communicating close to the bladder neck was managed by vaginal pull-through, while keeping the common urogenital sinus to act as urethra. In between, three intermediate cases were also managed by introitoplasty, while keeping them with the common urogenital sinus uncorrected.Results: The follow-up period ranged from 2 to 6.5 years. Apart from the hypoplastic external genitalia, all cases included in the study had minimal perineal scaring compared with old cases that underwent extensive perineal ‘urogenital’ dissection. Urinary and stool incontinence was observed in one case that was associated with caudal regression syndrome. Another case that underwent vaginal pull-through had poor evacuation of the urinary bladder; this was managed by anticholinergics and clean intermittent catheterization. The rest of cases had voluntary bowel movements and spontaneous voluntary micturition.Conclusion: Considering the potential risk and complications of separating the vagina from the urethra in some cases of cloaca, it might be better from the functional and cosmetic point of view to perform just introitoplasty while keeping these girls with the common urogenital sinus uncorrected.

Caudal Regression Syndrome/neurogenic bladder presented as recurrent urinary tract infection

Caudal Regression Syndrome (CRS) is also known as ‘Sacral Agenesis’ which represents vertebral anomaly and imperfections in the caudal region. It is a congenital syndrome; therefore, abnormalities ...

Intrauterine fetal demise with caudal regression syndrome, a case report

Background: The causes of intrauterine fetal demise are varied and not entirely well-understood. Multiple observational studies have shown that both perinatal and infant mortality rates are increased in children of diabetic mothers when compared to those of nondiabetic mothers. Case: We present a case involving a 22-year-old G4P0120 with poorly controlled type 1 diabetes mellitus and a complex medical history including two first trimester fetal losses, and second trimester intrauterine fetal demise who presented during the second trimester for care and was found to have a fetus with ultrasound findings consistent with caudal regression syndrome. When she presented in labor at term intrauterine fetal demise was identified. Discussion: Infants and fetuses of diabetic mothers are at a higher risk for congenital anomalies, one of which is the potentially devastating caudal regression syndrome. However, it appears that this risk may be lowered with strict glycemic control both before and during pregnancy.

Four Cases Presenting with Distinct Associations in Oculoauriculovertebral Spectrum

Oculoauriculovertebral spectrum (OAVS) is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Oculo-auriculovertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microsomia appears to be an intermediate form. Here we report four cases with different phenotypic expressions. Case 1 had unilateral anotia with cardiac and urogenital abnormalities. Case 2 was an offspring of a diabetic mother, presenting with unilateral microtia, facial paralysis and sacral agenesis. Case 3 had unilateral anotia plus hemifacial microsomia and facial clefting accompanied to Hirsprung disease. Case 4 was presenting with microtia/preauricular tags plus hemifacial microsomia without accompanying any other system abnormalities. Two had a positive family history, one of them was represented an autosomal dominant (case 1), and the other was autosomal ressesive mode of inheritance (case 4). Based on these cases, we highlighted the heterogeneity of the presentation and genetic etiology of OAVS.

Sacral agenesis: a pilot whole exome sequencing and copy number study.

BackgroundCaudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes.MethodWhole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations.ResultsIn this pilot study, exome sequencing and copy number variation (CNV) analyses implicate a number of candidate genes, including SPTBN5, MORN1, ZNF330, CLTCL1 and PDZD2. De novo mutations were found in SPTBN5, MORN1 and ZNF330 and inherited predicted damaging mutations in PDZD2 (homozygous) and CLTCL1 (compound heterozygous). Importantly, predicted damaging mutations in PTEN (heterozygous), in its direct regulator GLTSCR2 (compound heterozygous) and in VANGL1 (heterozygous) were identified. These genes had previously been linked with the CRS phenotype.Two CNV deletions, one de novo (chr3q13.13) and one homozygous (chr8p23.2), were detected in one of our CRS patients. These deletions overlapped with CNVs previously reported in patients with similar phenotype.ConclusionDespite the genetic diversity and the complexity of the phenotype, this pilot study identified genetic features common across CRS patients.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0359-2) contains supplementary material, which is available to authorized users.

Caudal Regression Syndrome

Caudal regression syndrome (CRS), also known as caudal dysplasia syndrome, is a rare malformation that ranges from mild coccygeal to severe forms of lumbosacral and lower thoracic agenesis. Anomalies of other organ systems may also be found simultaneously. Recognition of CRS is important as the extent of abnormality and gestational age could determine the pregnancy’s outcome. Antenatal diagnosis is possible by recognizing the characteristic features on sonography. In this particular case study, a diagnosis of CRS was made during the second trimester with sonography and resulted in an adequate medical management decision. The sonographic features of CRS and its differential diagnoses are discussed in the context of this case study.

Targeting of the Plzf Gene in the Rat by Transcription Activator-Like Effector Nuclease Results in Caudal Regression Syndrome in Spontaneously Hypertensive Rats.

Recently, it has been found that spontaneous mutation Lx (polydactyly-luxate syndrome) in the rat is determined by deletion of a conserved intronic sequence of the Plzf (Promyelocytic leukemia zinc finger protein) gene. In addition, Plzf is a prominent candidate gene for quantitative trait loci (QTLs) associated with cardiac hypertrophy and fibrosis in the spontaneously hypertensive rat (SHR). In the current study, we tested the effects of Plzf gene targeting in the SHR using TALENs (transcription activator-like effector nucleases). SHR ova were microinjected with constructs pTAL438/439 coding for a sequence-specific endonuclease that binds to target sequence in the first coding exon of the Plzf gene. Out of 43 animals born after microinjection, we detected a single male founder. Sequence analysis revealed a deletion of G that resulted in frame shift mutation starting in codon 31 and causing a premature stop codon at position of amino acid 58. The Plzftm1Ipcv allele is semi-lethal since approximately 95% of newborn homozygous animals died perinatally. All homozygous animals exhibited manifestations of a caudal regression syndrome including tail anomalies and serious size reduction and deformities of long bones, and oligo- or polydactyly on the hindlimbs. The heterozygous animals only exhibited the tail anomalies. Impaired development of the urinary tract was also revealed: one homozygous and one heterozygous rat exhibited a vesico-ureteric reflux with enormous dilatation of ureters and renal pelvis. In the homozygote, this was combined with a hypoplastic kidney. These results provide evidence for the important role of Plzf gene during development of the caudal part of a body—column vertebrae, hindlimbs and urinary system in the rat.

Caudal regression sequence and deletionof 7q34-q36.3 region

Caudal regression sequence and deletionof 7q34-q36.3 region

Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients.

Objective:The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of caudal regression syndrome (CRS) and concomitant anomalies in pediatric patients.Materials and Methods:A hospital-based cross-sectional retrospective study was conducted. The study group comprised 21 pediatric patients presenting to the Departments of Radiodiagnosis and Pediatric Surgery in a tertiary care hospital from May 2011 to April 2016. All patients were initially evaluated clinically followed by MRI.Results:In our study, 21 pediatric patients were diagnosed with sacral agenesis/dysgenesis related to CRS. According to the Pang's classification, 2 (9.5%) patients were Type I, 5 (23.8%) patients were Type III, 7 (33.3%) patients were Type IV, and 7 (33.3%) patients were of Type V CRS. Clinically, 17 (81%) patients presented with urinary incontinence, 6 (28.6%) with fecal incontinence, 9 patients (42.9%) had poor gluteal musculatures and shallow intergluteal cleft, 7 (33.3%) patients had associated subcutaneous mass over spine, and 6 (28.6%) patients presented with distal leg muscle atrophy. MRI showed wedge-shaped conus termination in 5 (23.8%) patients and bulbous conus termination in 3 (14.3%) patients above the L1 vertebral level falling into Group 1 CRS while 7 (33.3%) patients had tethered cord and 6 (28.6%) patients had stretched conus falling into Group 2 CRS.Conclusion:MRI is the ideal modality for detailed evaluation of the status of the vertebra, spinal cord, intra- and extra-dural lesions and helps in early diagnosis, detailed preoperative MRI evaluation and assessing concomitant anomalies and guiding further management with early institution of treatment to maximize recovery.

Report of a Sporadic Caudal Regression Syndrome With Cleft Lip and Palate

AbstractCaudal regression syndrome is a rare congenital malformation and can be associated with lower limb and renal anomalies. However caudal regression syndrome and cleft lip and palate (CLP) rarely occur together, the prevalence of sacral anomalies in children with CLP being 0.1%. We hereby report an eighteen month old male child with sporadic lumbosacral agenesis type III with tethered cord, hypospadias, unilateral renal agenesis and CLP for its rarity.

Sacral nerve stimulation lead implantation in partial sacral agenesis using intra‐operative computerized tomography

Sacral nerve stimulation (SNS) lead implantation is a straightforward procedure for individuals with intact spinal vertebrae. When sacral anomalies are present, however, the anatomical and radiological reference points used for the accurate placement of the electrode may be absent or difficult to identify. We describe an innovative surgical procedure of percutaneous nerve evaluation for SNS in a patient with faecal incontinence secondary to a congenital imperforate anus and partial sacral agenesis using a surgical imaging platform (O-arm system) under neurophysiological control. Using intra-operative CT and neuronavigation, the insertion point at the skin was identified. The lead was introduced into the right-sided S3 foramen and placed at the correct depth. An appropriate motor response was obtained after stimulation and neurophysiological control confirmed that the right S3 root was being stimulated. Our experience showed that O-arm guided navigation can be used to overcome the difficulty of SNS lead placement in patients with partial sacral agenesis who have faecal incontinence.

Cloacal dysgenesis sequence and myelomeningocele in maternal obesity and gestational diabetes

Purpose: The risk of prenatal caudal regression syndrome in worse managed gestational diabetes mellitus is fourhundredfold and in women with BMI > 40 threefold higher in comparison to normal collective. This constellation is often found in pregnant women with a deficiency of folic acid. We describe a case of fetal malformation in obesity and gestational diabetes.

Ultrasonographic evaluation of fetal sacral length and correlation with gestational age.

Background: During the last three decades, ultrasonographics of a number of fetal osseous structures have been adopted for the assessment of gestational age and the evaluation of fetal growth and development. The most frequently used morphometric parameters include biparietal diameter, head circumference and femur length. Moreover, nomograms for other osseous structures, such as mandible, clavicle, scapula, vertebral arch, iliac bone and foot length have been established. Another suggestion is to measure the length of fetal sacrum, which should be visualized as a part of routine ultrasonographic evaluation of a fetus. Hence, associated congenital anomalies such as sacral agenesis or sacrococcygeal teratoma can be detected simultaneouslyObjective: To evaluate the usefulness of fetal sacral length in determination of gestational age at 15th to 40th weeks of pregnancy.Method: This study was carried out on 441 normal pregnant women between 15 to 40 weeks of gestation over a period of 24 months to find out the correlation between gestational ages with fetal sacral length measured by ultrasonographically. 41 patients were excluded from my study as 09 had multiple pregnancies, 02 had fetal congenital anomaly; out of them one had anencephaly and one had lumbo-sacral meningocele and complete visualization of sacrum was not possible for 30 fetuses.Result: Measurements of fetal sacral length were performed by utilizing gray scale real time ultrasound scanner equipped with 3.5 MHz convex transducer and gestational age was estimated by LMP.The mean gestational age was 27.52 with standard deviation of mean (±SD) was ± 7.28 weeks and gestational age ranging from 15 to 40 weeks. 40.0% percent were Primigravida, 31.75% percent were 2ndgravida, 18.25 percent were 3rdgravida, 7.75 percent were 4th gravid and 1.75% percent were 5th and more gravida. Most of the cases were Primigravida and 2ndgravida. A positive significant correlation were found between fetal sacral length with gestational age (wk) (r=0.998; p&lt;0.001 and R²=99%)Conclusion:In this study it is observed that there is significant correlation of fetal sacral length with estimated fetal age so, it can be concluded in the present study that fetal sacral length(FSL) can be used as a parameter for estimation of gestational age.Update Dent. Coll. j: 2016; 6 (1): 08-14

Sitting Buddha position: Sacral agenesis case

Sacral agenesis syndrome (Caudal regression syndrome) is a neural tube defect that is characterized by absence of the vertebral segment that constitutes the sacrum. It is very rarely seen and generally develops sporadically. Its etiology is influenced by maternal diabetes, genetic factors, teratogenic agents and vascular hypo-perfusion. It is important to make a diagnosis in the prenatal period. This paper presents a newborn diagnosed with sacral agenesis as a case and discusses this disease in the light of the latest literature information.

Caudal Regression Syndrome

A case of caudal regression syndrome was reported in 20 wks foetus during routine foetal autopsy at GMCH, Chandigarh. The external examination showed 2 vessels in umbilicus. There was anteroposterior lengthening of skull. The anal opening was absent. The lower limbs were fused in thigh region with a small appendages attached to this on left side which also terminated in foot. The right foot had 5 toes and left foot had 3 toes. No external genitalia were seen. On internal examination, the gut was opening in a dilated cloaca like blind chamber. Kidneys were absent on both sides.X ray examination revealed small sacrum, femur, tibia in both the legs. Fibula was absent bilaterally. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a constellation of caudal congenital anomalies affecting caudal spine and spinal cord, hind gut, urogenital system, and the lower limbs. The etiology, incidence, causative factors of this case will be discussed in light of available literature.

Pregnancy outcomes after exposure to tocilizumab: A retrospective analysis of 61 patients in Japan

Objectives: To assess the effects of tocilizumab on pregnancy outcomes in Japanese patients with rheumatic disease.Methods: Data from Chugai’s tocilizumab safety database (April 2005 to October 2014) were retrospectively analyzed to identify pregnancy outcomes in patients exposed to tocilizumab.Results: Data were available for 61 pregnancies exposed to tocilizumab, and outcomes were reported for 50 of those pregnancies. In 36 births, no congenital anomalies were identified; however, six neonatal abnormalities were reported: five cases of low birth weight (<2500 g) and one case of neonatal asphyxia. Of 36 births, tocilizumab was resumed during lactation in two patients, with no subsequent adverse events reported in newborns. The spontaneous abortion rate was 18.0% (9 of 50 pregnancies), which is comparable to the rate in the general population. The five terminated pregnancies included one case of caudal regression syndrome.Conclusions: The present retrospective study of 61 pregnancies exposed to tocilizumab at conception indicated no increased rates of spontaneous abortion or congenital abnormalities in patients with rheumatic disease. However, further study is necessary to confirm the benefit-risk profile of tocilizumab treatment during pregnancy.