Spina bifida occulta with the persistent spinous process in living: A three-dimensionally reconstructed sacrum from computed tomographic imaging.

Background: Here we aim to report the persistent spinous process in the 'pan sacral type' of spina bifida occulta in an asymptomatic male and discuss its clinical significance. The presence of this type of dorsal wall defect with a bony spur attached to it has never been described in the literature to the best of our knowledge after extensive literature search. Our work presents the first anatomic description where the spinous and paraspinous cleft are seen in a sacrum of a live subject. Case Report: During a morphometric study of the sacra, normal subject computed tomography imaging (CT) was procured from the Department of Radio-diagnosis. A three-dimensional (3D) image of the sacrum was created using Dicom to Print and Geomagic freeform plus software. A complete dorsal wall defect was observed in a 3D reconstructed sacrum of an adult male. The sacral canal was converted into a groove with a bony spur hanging in the centre. The longitudinal bony spur attached to the lamina was the persistent spinous process. Conclusion: Such congenital defects are clinically significant for the anaesthetist during caudal epidural block and for orthopaedic surgeons before any surgical procedure. It may be misdiagnosed as an abnormal bony injury on CT. Thus, it is essential to ensure that patients with congenital anomalies are not treated unnecessarily for spinal fractures.

Atypical caudal regression syndrome with lumbar agenesis, hypoplastic sacrum without sacroiliac joints in the eastern Democratic Republic of Congo: a case report.

The agenesis of any segment of the lower spinal column referred to as "caudal regression syndrome" (CRS) is a rare congenital defect of the spine. This malformation is characterized by the absence of some or the entire lumbosacral vertebral segment. Etiological factors remain unknown. We report an atypical caudal regression syndrome with lumbar agenesis, disconnected from the remaining hypoplastic sacrum, in the Eastern part of the Democratic Republic of Congo (DRC).An 11-month-old female infant with no particular fetal or maternal history presented limb weakness with flexed knees and flanges in the popliteal fossae, sphincter atony, and a sensation of emptiness on palpation in the lumbosacral region. A 3D CT scan of the spine showed the absence of the lumbar spine and disconnection of the upper segment of the thoracic spine from the hypoplastic sacrum. We noted also the absence of the sacroiliac joints bilaterally and an unusual trigonal shape of the iliac bones. MRI and sonographic examination are required in the investigation of the disease. The management is multidisciplinary and depends upon the degree of the defect. Spine reconstruction has proven to be a valuable management technique but has many complications. We wanted to draw the medical world's attention to the existence of this extremely rare malformation in the east of the Democratic Republic of Congo, a mining area.

Imaging of Structural Abnormalities of the Sacrum: The Old Faithful and Newly Emerging Techniques.

The sacrum and sacroiliac joints pose a long-standing challenge for adequate imaging because of their complex anatomical form, oblique orientation, and posterior location in the pelvis, making them subject to superimposition. The sacrum and sacroiliac joints are composed of multiple diverse tissues, further complicating their imaging. Varying imaging techniques are suited to evaluate the sacrum, each with its specific clinical indications, benefits, and drawbacks. New techniques continue to be developed and validated, such as dual-energy computed tomography (CT) and new magnetic resonance imaging (MRI) sequences, for example susceptibility-weighted imaging. Ongoing development of artificial intelligence, such as algorithms allowing reconstruction of MRI-based synthetic CT images, promises even more clinical imaging options.

Currarino Syndrome: A Rare Case Report of Sepsis and Its Management.

Currarino syndrome (CS) is characterized by a triad of anomalies consisting of: a sacral bone defect, anorectal malformations and a pre-sacral mass. We present the case of an adult patient with a medical history of CS who presented with septic shock and was subjected to an emergency laparotomy due to severe abdominal distension. In this particular case, we underline the importance of immediate surgery on the patient's outcome as well as the considerable role of landiolol in controlling the heart rate with no further deterioration of blood pressure in this patient presenting with atrial fibrillation and sepsis.

Internal fat prolapse from ischiorectal fossa masquerading as currarino syndrome.

Pelvic magnetic resonance imaging (MRI) is the latest addition to already existing tools for evaluation of anorectal malformation (ARM). It provides detailed information about pelvic floor musculature as well as position of rectal pouch. However, lack of knowledge about normal pelvic floor anatomy can lead to misinterpretation of pelvic MRI which can create confusion and change in approach for surgery. A 14-month-old male child with diagnosis of ARM was evaluated with pelvic MRI. There was finding of abnormal protrusion of fat through the ischiorectal fossa which was misinterpreted as Currarino syndrome which created confusion immediately before posterior sagittal anorectoplasty. Pelvic MRI is highly informative while evaluating a case of ARM. However, a detailed knowledge of pelvic floor anatomy is mandatory to avoid wrong interpretation and misdiagnosis.

Primitive neuroectodermal tumor in a child with Currarino syndrome.

BACKGROUND: Curarino syndrome is a rare and complex anomaly with the triad of anorectal malformation, presacral mass and sacral bone deformation. The most common cause of the presacral mass is meningioma, but teratoma is the diagnosis in about one-third of the cases. Malignant transformation of teratoma in the form of carcinoma, rhabdomyosarcoma and leukemia have previously been reported on rare occasions. CASE: A 19 month-old-girl was referred with a presacral mass of 29mm x 23mm x 24mm. She was diagnosed as Currarino syndrome. The presacral mass was surgically resected and pathological examination revealed a foci of primitive neurectodermal tumor. CONCLUSIONS: This is the first case of Currarino syndrome with a primitive neuroectodermal tumor (PNET) foci in the presacral mass. Considering the risk of malignant transformation, the accurate pathological examination is important for complete systemic evaluation and treatment plan in these children.

18F-FDG PET/CT of Malignant Presacral Masses in Currarino Syndrome.

ABSTRACT: The Currarino syndrome is characterized by 3 main features: anorectal malformation, presacral lesion, and dysgenesis of the sacrum and coccyx. The presacral lesion is usually benign with a rare occurrence of malignant degeneration. The author presents 2 cases of Currarino syndrome with presacral mucinous adenocarcinoma and neuroendocrine tumor depicted by 18F FDG PET/CT.

Fetal Sacral Ratio: A Novel Method for Prenatal Sonographic Assessment of Sacral Abnormalities.

OBJECTIVES: The sacral ratio (SR) was described as a postnatal X-ray-based method to detect sacral abnormalities and predict functional prognosis for fecal continence in children with anorectal malformations (ARMs). The present study aimed to describe a novel method of assessing sonographic fetal sacral ratio (f-SR) in a normal population of fetuses. METHODS: Sixty three-dimensional (3D) ultrasound reconstruction images of the sacrum obtained from routine low-risk scans performed between 21 and 26 weeks of gestation served for measurement. The f-SR was calculated in a coronal view as the ratio between lines drawn at the upper and lower levels of the iliac bone and the 5th sacral vertebra. Bland-Altman plots assessed the inter- and intrareader variabilities of measurements. RESULTS: The f-SR in the normal population of fetuses was 0.913 (±0.094). During the study period, three cases with ARM were examined and had a mean f-SR of 0.55. There was good repeatability of measurements and between readers' agreement. CONCLUSIONS: The present study introduces a novel prenatal sonographic f-SR that can be reliably calculated on prenatal 3D ultrasound with good reliability and reproducibility. Future research will identify the clinical significance of f-SR abnormalities in ARM and their long-term impact on continence.

Congenital musculoskeletal anomalies - key radiographic findings.

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.

Postoperative complications and long-term outcomes in Currarino syndrome.

PURPOSE: This study aimed to present ten cases of Currarino syndrome, study their postoperative complications and prognosis, and analyze whether patient background and clinical factors influenced outcomes. METHODS: Ten patients with Currarino syndrome who were followed up at our institution between 2004 and 2020 were enrolled. Patient records were retrospectively reviewed for clinical details, postoperative complications, and long-term outcomes. RESULTS: The incidence of early postoperative complications was 80%, most of which were transient dysuria. The dysuria significantly developed in the higher normal sacral vertebra (p = 0.024) and the complete type of Currarino syndrome (p = 0.033). Later, intractable constipation requiring rectal irrigation and intractable dysuria requiring clean intermittent catheterization occurred in 40% and 30% of the patients, respectively. There was a tendency for tethered cord syndrome (p = 0.076), and the height of the normal sacral vertebra (p = 0.071) was related to intractable constipation. The height of the normal sacral vertebra (p = 0.05) and the tumor size on the image (p = 0.012) were significantly higher and larger, respectively, in the group with intractable dysuria than in the group without intractable dysuria. CONCLUSION: Postoperative complications, especially early ones, occur at a high rate. Long-term intractable constipation and dysuria may be influenced by the degree of sacral dysplasia.

Peripartum Diagnosis of Currarino Syndrome With Anterior Sacral Meningocele: A Case Report.

Neurologic conditions without prenatal optimization can pose anesthetic and obstetrical challenges. We present a case of Currarino syndrome; an autosomal dominant triad of agenesis of the sacrum, anterior sacral meningocele (ASM) with sacral teratomas, and anorectal stenosis; diagnosed during pregnancy; and the subsequent anesthetic considerations. The location, size, and risk of rupture of the ASM can create obstacles to delivery. Eligibility for neuraxial anesthesia should be made on a case-by-case basis with risk-benefit analysis, and deficits should be documented allowing prompt identification and intervention should complications arise. Multidisciplinary team coordination is vital to help facilitate maternal safety.

The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.

BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or neurenteric cyst, anterior meningocele or hamartoma. Females are more frequently affected and usually present with associated gynecologic and urinary tract problems. CS is considered an autosomal dominant trait, with reduced penetrance and variable expressivity. CS is associated with mutations in the MNX1 gene (motor neuron and pancreas homeobox-1, previously known as HLXB9) mapped to chromosome 7q36. Heterozygous loss-of-function mutations in the coding sequence of MNX1 gene have been reported in nearly all familial CS cases and in approximately 30% of CS sporadic patients. CASE: Here, we present the case of a woman with features of CS carrying a mosaic mutation in the coding region of MNX1 gene. This is the only reported case of a CS diagnosis in which the mutation is present in less than 50% of cells. CONCLUSION: The lower detection rate of MNX1 mutations in sporadic cases could similarly be explained by somatic mosaicism, mutations occurring outside the coding regions, or genetic heterogeneity.

Posterior Wall Defect of Sacrum: An Anatomical Study of Sacral Spina Bifida.

AIM: To investigate the incidence, types, morphological and morphometric properties of spina bifida on dry sacral bones. MATERIAL AND METHODS: 110 dry adult sacrums gathered from the bone collections of the Laboratory of the Anatomy Department of Dokuz Eylul University School of Medicine were examined. The parameters analysed were: 1) results of parameters related to the posterior sacral wall; 2) classification and rate of the closure defects; 3) classification of the top sacral vertebrae according to the shape of its superior surface; 4) presence of sacralisation and lumbalisation among sacrums with dorsal wall defects; 5) vertebral levels of apex of the sacral hiatus; and 6) vertebral levels of closure defects of the sacrums. RESULTS: We determined 22/110 (20%) sacrums demonstrated spina bifida. Of these 22 sacrums, 4 (18.18%) showed complete and 18 (81.82%) showed incomplete spina bifida. We noted the coexistence of spina bifida with sacralisation (6/22 [27.27%]) and lumbalisation (5/22 [22.73%]). The types of defects were described and grouped as ?V? (Type 1), inverse ?V? (Type 2), window (Type 3), foramen (hole) (Type 4), sand watch (Type 5), narrow linear (Type 6), wide linear (Type 7), and bridged (Type 8). The shape of upper surfaces of the sacrums with spina bifida was grouped as: cavity (20/22, 90.9%), hump (1/22, 4.5%), and flat (1/22, 4.5%). CONCLUSION: A precise definition of the anatomical variations of sacrums is essential for surgeons, particularly when operating using endoscopic techniques and for anaesthesiologists applying caudal epidural block.

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder.

BACKGROUND: The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal-ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. MAIN BODY: In the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that CS may underlie an additional mode(s) of inheritance. Often, the diagnosis of CS is established solely by clinical findings, impacting a detailed analysis of the disease. Our combined data, evaluating more than 60 studies reporting patients with CS-associated mutations, revealed a slightly higher incidence rate in females with a female-to-male ratio of 1.39:1. Overall, MNX1 mutation analysis was successful in only 57.4% of all CS patients investigated, with no mutation detected in 7.7% of the familial and 68% of the sporadic patients. Our studies failed to detect the presence of an expressed MNX1 isoform that might explain at least some of these mutation-negative cases. CONCLUSION: Aside from MNX1, other genes or regulatory regions may contribute to CS and we discuss several cytogenetic studies and whole-exome sequencing data that have implicated further loci/genes in its etiology.