Partial Sacral Agenesis Research Articles

Caudal regression syndrome: A rare case report with review of the literature

Caudal regression syndrome is a very rare neural tube disorder, in which the caudal vertebral column and spinal cord develop abnormally, causing substantial sensory and motor deficits, primarily in the legs. An abnormality in the spinal cord and nerve roots interacts with a section of lumbar, lumbosacral, or coccygeal spinal dysgenesis or agenesis. Here, we present a rare case of caudal regression syndrome in a 3-year-old male child who was brought to the pediatrics department with a serious complaint of urine dribbling since infancy. The infant was discovered with spina bifida, lumbar scoliosis, and cavus deformity in both feet during a routine health check. For which, a neurological opinion was taken. Plain X-ray revealed a partial sacral agenesis, MRI revealed anterior and posterior nerve roots of cauda equina divided into two bundles of fibers due to abnormal path. The lower back and both gluteal areas were underdeveloped. On the basis of radiological findings, a diagnosis of the syndrome was confirmed.

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.

Cloacal dysgenesis sequence associated with esophageal atresia and tracheoesophageal fistula: A case report and review of literature

Absence of any orifice in perineum, presence of smooth perineum, and absence external genitalia are characteristic of cloacal dysgenesis sequence (CDS). Newborn of 40w gestational age, born to mother with oligohydramnios, had very low APGAR scores, and was put on ventilator. Child had dysmorphic facies, short neck, compressed chest, no urinary bladder swelling, absence of any perineal orifice, a raised fold of skin at the site of phallus and bilateral talipes calcaneovalgus. Esophageal atresia (EA) was diagnosed clinically and radiographically. Pulmonary hypoplasia, distal tracheoesophageal fistula (TOF), thin, flat and broad cervical vertebrae with spina bifida, partial sacral agenesis and cardiac anomalies were demonstrated by radiographs and echocardiography respectively. Child progressively more desaturated on ventilator and died at 16h after birth before detailed assessment including sex could be done. CDS results from failure of urorectal septum to fuse with cloacal membrane at 7 th week of intrauterine life. It can occur in male and female. CDS is lethal resultant from associated severe pulmonary hypoplasia and renal insufficiency. Very rarely such child is born alive as in our case. Association of CDS with EA+TOF is extremely rare. In view of 5 long-term survival reports of CDS, prenatal diagnosis is warranted and treatment should be initiated.

Sacral neuromodulation in congenital lumbo-sacral and traumatic spinal cord defects with neurogenic lower urinary tract symptoms: a single-center experience in children and adolescents.

This study evaluated sacral neuromodulation's effectiveness for managing refractory neuropathic lower urinary tract dysfunction in children and adolescents. Twenty-five children and adolescents underwent peripheral nerve evaluation test phase of sacral neuromodulation at our center. Thirteen (seven boys and six girls) cases suffered from neuropathic lower urinary tract dysfunction refractory to the maximum medical treatment. The test was done with temporary wire in all patients. Patients with more than 50% improvement in symptoms were chosen for the second stage of implantation of quadripolar tined lead and implantable pulse generator. Bowel transit symptoms were recorded before and after the surgery. Eight patients (61.53%; five boys and three girls) had positive responses to the peripheral nerve evaluation test phase. They underwent implantation of permanent quadripolar tined lead and implantable pulse generator. The etiologies were lumbosacral myelomeningocele, occult spina bifida, partial sacral agenesis and incomplete spinal cord injury. Positive clinical response (> 50% improvement in symptoms) was achieved in seven (85%) at a mean follow-up of 14.25months. Three patients became capable to stop clean intermittent catheterization (P =0.125). The 24-h pad test decreased from 484 to 78g from before to after the surgery (P =0.043). This clinical study on a small sample size of children and adolescents demonstrates positive results in short-term follow-up. However, as the procedure is still not approved officially, multicenter studies with more patients can prove the safety and efficacy of sacral neuromodulation in long term among this special group of patients.

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.

Sacral malformations: use of imaging to optimise sacral nerve stimulation.

The success of sacral nerve stimulation, a common treatment for pelvic floor disorders, depends on correct placement of the electrodes through the sacral foramina. When the bony anatomy and topography of the sacrum and sacral spinal nerves are intact, this is easily achieved; where sacral anomalies exist, it can be challenging. A better understanding of common sacral malformations can improve the success of sacral nerve stimulation (SNS) electrode placement. We reviewed 998 consecutive MRI scans performed to investigate low back pain in patients who had undergone CT and/or X-ray. Congenital sacral malformations were found in 24.1%, the most common being sacral meningeal cysts (16%) and spina bifida occulta (9.9%). Others were lumbosacral transitional vertebrae (2.5%), anterior occult meningocele (0.5%), partial sacral agenesis (0.2%) and vertebral dysplasia of S1 (0.2%). This radiologic review uncovered a high incidence of sacral malformations, and most were asymptomatic. All surgeons who perform SNS should have a basic understanding of sacral malformations, their incidence and effect on foraminal anatomy. Imaging will aid procedural planning.

Ipsilateral hip dysplasia in patients with sacral hemiagenesis: a report of two cases.

Sacral agenesis (SA) is a rare condition consisting of the imperfect development of any part of the sacrum. This paper describes two cases of the rare cooccurrence of ipsilateral SA and developmental dysplasia of the hip (DDH) and analyzes possible contributory factors for SA and DDH. Each of a 16-year-old female and 13-year-old female visited our hospital for left hip pain and limping. The findings of physical examinations showed a lower limb length discrepancy (left side) in both cases, as well as left hip pain without limitations of the range of motion or neurological deficits. Initial radiographs demonstrated left subluxation of the left hip with associated acetabular dysplasia and partial left sacral agenesis. MRI revealed a tethering cord with a fatty filum terminale, and periacetabular osteotomy combined with allogeneic bone grafting was performed. After the surgery, the patients experienced no further pain, with no leg length discrepancy and were able to walk without a limp, being neurologically normal with a normal left hip range of motion. The cooccurrence of SA and DDH suggests a plausible hypothesis to explain the embryogenic relationship between malformation of the sacrum and hip.

Dental developmental abnormalities in a patient with subtelomeric 7q36 deletion syndrome may confirm a novel role for the SHH gene

Studies in mice demonstrated that the Shh gene is crucial for normal development of both incisors and molars, causing a severe retardation in tooth growth, which leads to abnormal placement of the tooth in the jaw and disrupted tooth morphogenesis. In humans the SHH gene is located on chromosome 7q36. Defects in its protein or signaling pathway may cause holoprosencephaly spectrum, a disorder in which the developing forebrain fails to correctly separate into right and left hemispheres and that can be manifested in microforms such as single maxillary central incisor. A novel role for this gene in the developing human primary dentition was recently demonstrated. We report a 12-year old boy with a de novo 7q36.1-qter deletion characterized by high-resolution karyotyping, oligonucleotide aCGH and FISH. His phenotype includes intellectual disability, non-verbal communication, hypospadia, partial sacral agenesis and absence of coccyx, which are distinctive features of the syndrome and mainly correlated with the MNX1, HTR5A and EN2 genes. No microforms of holoprosencephaly spectrum were observed; but the patient had diastema and dental developmental abnormalities, such as conical, asymmetric and tapered inferior central incisors. The dental anomalies are reported herein for the first time in subtelomeric 7q36 deletion syndrome and may confirm clinically a novel role for the SHH gene in dental development.

A rare case of giant terminal lipomyelocystocele with partial sacral agenesis

Terminal myelocystoceles (TMCs) are a rare form of occult spinal dysraphism. They constitute approximately 5% of skin covered lumbosacral masses. The TMC is composed of a low-lying conus medullaris with cystic dilatation of caudal central canal, a surrounding meningocele and a lipoma that extends from the conus to a subcutaneous fat collection. A 6-month-old female child presented with a large lumbosacral mass (14 cm × 12 cm × 10 cm) and weakness at the ankle joints since birth. Magnetic resonance imaging and computed tomography scan revealed a low-lying terminal lipomyelocystocele with holocord syrinx and partial sacral agenesis. The child was operated on successfully. This is an interesting and rare case of giant terminal lipomyelocystocoele with syrinx and a partial sacral agenesis. Terminal lipomyelocystocele should be included in the differential diagnosis of congenital lesions presenting as a lumbosacral mass and operated early.

Clinical and gross pathological findings of congenital spina bifida and sacrococcygeal agenesis in an Omani crossbred calf

Abstract The objective of this case report was to describe the gross post-mortem findings of a rare clinical case of spina bifida and congenital sacrococcygeal agenesis in an Omani cross-bred calf. A three week-old Omani female cross-bred calf was recumbent at birth. Clinical examination revealed that the calf was mentally alert, but exhibited stiff and extended pelvic limb joints. The pectoral limbs were apparently normal. The calf had a fistulated circular excrescence in the skin (three centimeter in diameter) on the dorsal midline region of sacral region. The area surrounding the excrescence was void of hair. The calf also did not have a tail. Upon clinical consideration of the prolonged recumbency and suspected congenital skeletal defect, the calf underwent euthanasia. The observed gross post-mortem findings of the present case study were spina bifida, anury, partial sacral agenesis, scoliosis, misshapen ilium and a narrow pelvic canal. No abnormalities in the caudal abdominal organs were found. To the best of our knowledge this is the first reported case of spina bifida and sacrococcygeal agenesis in an Omani cross-bred calf.

Sacral nerve stimulation for faecal incontinence secondary to congenital imperforate anus

After treatment in infancy, patients with imperforate anus can develop bowel dysfunction in adult life. Low anorectal malformations are often associated with congenital deformity of the sacrum and coccyx (sacrococcygeal agenesis). Sacral nerve stimulation (SNS) is an effective treatment for incontinent patients with an accompanying acquired sphincter defect. We report two patients treated by SNS for faecal incontinence secondary to congenital imperforate anus. Two adults presented with faecal incontinence. Both had a congenital imperforate anus. The first, a female 36 years old, suffered from lifelong incontinence. She had daily passive soiling, a sensation of incomplete emptying and urgency (less than 5min). The second, a male 35 years old, had had incontinence since adulthood. He had urgency (2min) and daily soiling. Both had undergone coloanal pull-through procedures in infancy. Anal manometry showed a low resting pressure in both patients (30 and 33cm H2O) and a reduced peak squeeze pressure increment (15 and 40cm H2O). Endoanal ultrasonography demonstrated a complete ring of muscle around the neo-anus in both patients. The patients underwent peripheral nerve evaluation (PNE). Both had partial sacral agenesis, which made this technically difficult. After 3weeks of PNE, the female patient showed no improvement, but the male patient had no further episodes of incontinence and urgency improved from 2 to 15min. Accordingly, he underwent implantation of a permanent pulse generator. SNS may be effective for some incontinent patients with imperforate anus even in the presence of partial sacral agenesis. The clinician should be aware of any associated sacral agenesis and the technical difficulty this may cause. Alternative methods of neuromodulation, such as pudendal nerve stimulation, could be considered in such cases.

Currarino’s triad diagnosed in an adult woman

PurposeTo report on a female patient diagnosed with Currarino’s triad in adulthood.Case reportThis case presents an adult patient with a medical history of a congenital anal atresia, a partial sacral agenesis, and a surgically treated ectopic anus. After a coincidentally observed presacral mass by MRI, due to unexplained constipation later in adulthood, Currarino’s triad was suspected in this patient. This triad consists of anorectal malformation(s), sacrococcygeal defects and a presacral mass of various origin. Further investigation confirmed the mass to be a meningocele, and showed a tethered cord and a syrinx.ConclusionsIn (young) patients with anorectal malformations, although having no other symptoms, further examination might be required to exclude Currarino’s triad. Importance of early diagnosis and multidisciplinary assessment is recommended to establish adequate treatment if needed.

Resonancia fetal y síndrome de Currarino

Currarino syndrome is an autosomal dominant partial sacral agenesis involving sacral vertebrae S2 to S5, with preservation of the S1 vertebrae. In the most severe form of the syndrome, the sacral agenesis is associated with a presacral mass and anorectal and urogenital malformations.

Currarino syndrome with pelvic neuroendocrine tumor diagnosed by post‐mortem genetic analysis of tissue specimens

Currarino syndrome (CS) is an autosomal dominant disorder of embryonic development characterized by the triad of anorectal abnormalities, partial sacral agenesis, and presacral mass. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. We report the clinical case of a 44-year-old Caucasian woman with malignant neuroendocrine transformation of a pre-sacrococcygeal mass combined with bicornuate uterus, dermoid cyst of the ovaries, and chronic constipation. After the patient died, a sacrococcygeal malformation and anterior meningocele were diagnosed in her 22-year-old son. CS diagnosis was then retrospectively confirmed by molecular analysis of normal and pathological tissue specimens of the mother, with identification of a HLXB9 mutation (c.727C>T; p.R243W). CS should be considered, and genetic counseling recommended, to all patients with presacral masses. Since malignant neuroendocrine transformation of presacral mass in CS is a possible complication, even thought rare, close follow up in these patients is advisable.

Mutation analysis of the motor neuron and pancreas homeobox 1 ( MNX1, former HLXB9) gene in Swedish patients with Currarino syndrome

Background Currarino syndrome (CS) is a triad consisting of partial sacral agenesis, presacral mass, and anorectal malformations, typically anal stenosis but the phenotype varies. The main cause of this monogenic disorder is mutations in the motor neuron and pancreas homeobox 1 gene. We describe the clinical and genetic findings in 4 unrelated Swedish cases with CS and their relatives. Methods We performed mutation analysis of the motor neuron and pancreas homeobox 1 gene in 4 cases with CS by DNA sequence analysis as well as multiplex ligation-dependent probe amplification. In addition, array comparative genome hybridization was performed in 2 cases. Including relatives, totally, 14 individuals were analyzed. Results We found 2 previously described mutations, 1 de novo nonsense mutation (p.Gln212X) and 1 maternally inherited frameshift mutation (p.Pro18ProfsX38). In the family with the frameshift mutation, we also detected the same maternally inherited mutation in 3 of the proband's 4 brothers, who displayed varying symptoms. All mutation carriers had presacral tumors, although 2 were asymptomatic. Conclusion Our findings emphasize the need for genetic counseling and mutation analysis in patients with CS to detect tumors early. It shows the importance of evaluation of the sacrum and the presacral region in patients with anal stenosis with or without funnel anus. Family members of index cases should be considered for evaluation even if they are asymptomatic.

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

We describe a French young man with digital anomalies consisting of brachydactyly, F1-5 bilateral camptodactyly, interdigital webbing, F5 bilateral radial clinodactyly, and partial syndactyly of some fingers and toes. He had psychomotor retardation, short stature, umbilical hernia, a secundum atrial septal defect, seizures, hearing impairment, and dysmorphic features consisting of microcephaly, a prominent metopic ridge, upslanting palpebral fissures, synophrys, enophthalmia, large ears, a bulbous nose, a high palate, a smooth and short philtrum, a low hanging columella, a thin upper vermillion, an everted lower lip, prognathism, pectum excavatum, and supernumerary nipples. Osteotendinous reflexes were brisk. Mild nystagmus, myopia, and astigmatia were also noted. Total body X-rays showed short terminal phalanges of the hands, short middle phalanges of the index and little fingers, clinodactyly of the little fingers, short and fused proximal 4th and 5th metacarpals of the right hand, a short 5th metacarpal of the left hand, a fused left lunate-triquetrum, fused capitate-hamates, a prominent mandibula, and partial sacral agenesis. A thin posterior corpus callosum was apparent by MRI. Differential diagnoses for mainly the Rubinstein-Taybi syndrome, the Tsukahara syndrome, the Filippi syndrome, the Feingold syndrome, and the Tonoki syndrome are discussed, and the possibility that we might be reporting a novel entity is raised. © 2011 Wiley-Liss, Inc.

CAUDAL REGRESSION SYNDROME IN ONE OF DIZYGOTIC TWINS

Caudal regression syndrome is a rare congenital condition characterized by varying degrees of developmental failure ranging from a partial sacral agenesis to the absence of lumbosarcal spine, hypoplasia, or fusion of the lower extremities and visceral anomalies. This is the third case of only one of the twins involved by this syndrome described in the literature and the second case of the selective involvement in dizygotic twins. Selective involvement of only one twin suggests that factors other than hyperglycemia and 7q deletions may be involved in the pathogenesis.

Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de Currarino

OBJETIVO: Relatar o caso de uma criança com síndrome de Currarino diagnosticada após avaliação por episódios recorrentes de infecção urinária. DESCRIÇÃO DE CASO: Menina branca de dois anos, única filha de pais hígidos e sem história familiar de defeitos congênitos. A criança nasceu com imperfuração anal e com fístula retovestibular diagnosticadas no primeiro dia de vida. Por volta dos sete meses, começou a apresentar episódios recorrentes de infecção urinária, estabelecendo-se o diagnóstico de bexiga neurogênica. Na mesma ocasião, foi constatada a presença de agenesia parcial do sacro. A avaliação pela tomografia computadorizada e ressonância nuclear magnética de coluna identificou presença de fístula coincidente com a fosseta da transição lombo-sacral, observada ao exame físico; amputação da porção inferior da medula, com diminuição do número de raízes nervosas da cauda equina e massa pré-sacral de aspecto lipomatoso. Esta foi confirmada durante a cirurgia de correção do ânus imperfurado. A criança não apresentava outras dismorfias e a avaliação radiológica dos pais não identificou anormalidades sacrais. COMENTÁRIOS: A síndrome de Currarino é uma doença genética autossômica, dominante e rara caracterizada pela tríade formada por atresia anal, agenesia parcial do sacro e tumoração pré-sacral. Inclui teratomas, meningoceles, cistos entéricos e lipomas, como observado em nossa paciente. Crianças apresentando anormalidades anorretais deveriam ser sempre cuidadosamente avaliadas quanto à presença da síndrome de Currarino. A agenesia parcial do sacro é um forte indicativo da doença.

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q

Currarino syndrome (CS) is a peculiar form of caudal regression syndrome [also known as autosomal dominant sacral agenesis (OMIM no. 176450)] characterised by (1) partial absence of the sacrum with intact first sacral vertebra, (2) a pre-sacral mass and (3) anorectal anomalies (Currarino triad). We studied a 3-year-old girl with Currarino triad who had additional systemic features and performed array comparative genomic hybridisation to look for chromosomal abnormalities. This girl had the typical spectrum of anomalies of the CS including (a) partial sacral agenesis (hemisacrum with remnants of only sacral S1–S2 vertebrae and a residual S3 vertebral body) associated with complete coccygeal agenesis, (b) pre-intrasacral dermoid, (c) intra-dural lipoma, (d) ectopic anus and (e) tethered cord. She had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<−3 SD) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of IGF-1. A de novo 10.3-Mb duplication of 7q34–q35 and an 8.8-Mb deletion on 7q36 were identified in this patient. The Homeobox HLXB9 (CS) gene is contained within the deletion accounting for the CS phenotype including microcephaly. The spectrums of associated abnormalities in the IGF-1 deficiency growth retardation with sensorineural deafness and mental retardation syndrome (OMIM no. 608747) are discussed. To the best of our knowledge, this is the first reported case of a patient with distal 7q chromosomal imbalance and features of CS triad (including microcephaly) and the first documented case of a patient with normal gyration pattern microcephaly. The spectrum of associated anomalies in this newly recognised phenotype complex consists of growth failure, typical facial anomalies with additional (previously unreported) nervous system abnormalities (e.g. sensorineural deafness) and somatomedin C deficiency.

Impact of spinal cord malformation on bladder function in children with anorectal malformations

Purpose Risk factors for the presence of neurogenic bladder dysfunction (NBD) in children born with high anorectal malformations (ARMs), were investigated, to identify the need for urodynamics in these patients. Material and Methods The study included 37 patients with high ARMs (21 boys and 16 girls). Bladder function was evaluated with urodynamics both before and after anorectoplasty (posterior sagittal anorectoplasty [PSARP]). All patients were investigated with spinal radiograph. Spinal ultrasound was performed in the neonatal period, and magnetic resonance imaging was added in case of abnormal ultrasound or urodynamics and in case of cloacal malformation. Results In ARM patients with rectourethral and vestibular fistulas and cloacas, NBD was identified in 9 children (25%). The bladder dysfunction was innate in all cases except in one girl with cloaca, indicating that the risk of iatrogenic denervation seems minimal using the PSARP technique. All children with innate NBD had a spinal cord malformation either as spinal cord regression or tethering with or without a lipoma. Concerning vertebral status, almost all children with NBD had partial sacral agenesis. Abnormal perineal appearance was highly correlated to NBD in boys, especially in those with a spinal cord regression malformation. Innate NBD was not found in any child with normal spinal cord. Conclusion From these results, we suggest that spinal ultrasound and perineal inspection are used as screening procedures for NBD in children with ARM. Urodynamic investigation is recommended only when spinal cord anomalies or other signs indicative of NBD are present. In case of spinal cord malformation, repeated urodynamics during follow-up is mandatory because of the risk for developing tethered cord syndrome.