To propose a morphologic-phenotypic stratification and investigate the radiological characteristics for the patients with anorectal malformation (ARM) associated with congenital spinal deformities. A retrospective review was conducted on ARM patients who had received treatment in the neonatal surgery department of our hospital from January 2008 to December 2022. A total of 86 patients diagnosed with spinal deformities were enrolled, including 49 males and 37 females. We classified the patients included into three groups according to the range vertebral anomalies involving: Group Ⅰ: Patients with thoracic/lumbar vertebral anomalies but no sacral agenesis (SA). Group Ⅱ: Patients with isolated SA. Group Ⅲ: Patients with both SA and thoracic/lumbar vertebral anomalies. Their demographic characteristics, ARM type, type and location of the vertebral anomalies, sacral agenesis and rib anomalies, and concomitant defects of other systems were analyzed. There were 33 (38.4%), 41 (47.7%), and 12 (13.9%) patients in the Group Ⅰ, Group Ⅱ and Group Ⅲ, respectively. The average evaluation age of Group Ⅱ patients was 120.000 (90.000, 150.000) days, which was significantly older than the other two groups (P = 0.008). There was no gender difference and ARM type difference among three groups. The spinal deformity mainly occurred in main thoracic region (25/33) and proximal thoracic region (18/33) in Group Ⅰ, whereas in Group Ⅲ the spinal deformity mainly occurred in lumbar region (11/12) and thoracolumbar region (9/12) (P < 0.05). There was no significant difference of the type for vertebral anomaly, levels of vertebral anomaly involved and the percentage of the multiple anomalies between Group Ⅰ and Group Ⅲ. Group Ⅱ patients had more serious sacral agenesis than Group Ⅲ (P = 0.013). The prevalence of associated rib anomalies was higher in Group Ⅰ patients than Group ⅠI (P = 0.002). Besides, the patients of Group Ⅰ had lower incidence of intraspinal anomalies (P < 0.001) compared with the other two groups. This study proposes a morphologic-phenotypic stratification for patients with anorectal malformations associated with congenital spinal deformities. Differences in clinical and radiological characteristics among the three groups have important implications for evaluation and treatment.

The purpose of the study is to analyze modern scientific achievements in the field of anomalies of the caudal spine and syndromic diseases that are most common in medical practice, and compare them with our clinical observations. Materials and methods: A rare clinical case of caudal regression syndrome in a child was investigated. Medical history was studied by interviewing the parents, reviewing outpatient and inpatient records, and analyzing the results of clinical and laboratory tests. The primary method of examination was X-ray. For more accurate diagnosis, ultrasound, and contrast-enhanced computed tomography (with Tomohexol-350) in 3-D format were used. Our findings were compared with the results of other studies conducted over the last ten years. Results of the study and discussion: A 15-year-old girl, G., was under our observation. Her weight was 50 kg, and her height was 167 cm. A month prior to admission, she had experienced pain in the lower abdomen and lumbar spine. She became fatigued quickly, could stand and run only for short periods. The spinal axis deviated to the right in the lumbar region, with the apex of the curvature at the third lumbar vertebra, and a fixed deformity. Plain radiographs of the lumbar spine revealed multiple vertebral malformations. An ultrasound of the abdominal cavity showed a cyst on the left ovary, agenesis of the left kidney, and multiple malformations of the lumbar spine. The uterus was deformed – "bicornuate uterus". A diagnosis of caudal regression syndrome was made, and the course of the condition and treatment were described. Conclusions: A defect that develops in the early stages of embryogenesis typically leads to multiple malformations of nearby anatomical structures. This phenomenon is known as sequencing – the sequence of congenital multiple malformations, which is supported by our findings. It is clear that caudal regression syndrome may have several variants, which require further study.

Sacral nerve stimulation in sacral agenesis using 3D printing and intraoperative navigation: report of two cases and narrative review

Sacral agenesis is a rare cause of neurogenic bladder which leads to urinary incontinence, recurrent urinary tract infections (UTIs), and progressive renal dysfunction. The coexistence with situs inversus adds anatomical complexity, posing challenges in clinical and surgical management. We reported a case of a 23-year-old male with sacral agenesis and situs inversus presenting with incontinence and recurrent UTIs. The patient was non-compliant to clean intermittent self-catheterization(CISC). He underwent successful urinary diversion with a left-sided ileal conduit. Postoperative recovery was uneventful, with improved renal parameters and quality of life. Urinary diversion using a left-sided ileal conduit is a rare but feasible option for treatment when right-sided diversion is contraindicated. This case highlights that left-sided ileal conduit is a safe and effective option in managing neurogenic bladder in the context of sacral agenesis and situs inversus, underscoring the need for early recognition and individualized surgical planning in congenital anomalies.

Currarino Syndrome (CS) is a rare congenital anomaly defined by a triad of anorectal malformations, presacral mass, and sacral bony defects. Although it typically presents in early childhood, adolescent cases are increasingly recognised but often missed. Due to significant overlap in clinical features, CS may be mistaken for more prevalent conditions such as Hirschsprung’s Disease (HD). This diagnostic ambiguity often leads to prolonged evaluation, repeated testing, higher healthcare costs, and patient dissatisfaction. We present the case of an 18-year-old female with a 12-year history of severe, refractory constipation who was initially evaluated for HD. Cross-sectional imaging ultimately revealed sacral agenesis, a presacral mass, and a tethered cord, leading to a definitive diagnosis of CS. The patient subsequently underwent neurosurgical detethering and mass excision, resulting in substantial symptomatic relief. This case underscores the need to maintain a high index of suspicion for CS in adolescent patients with unexplained constipation, particularly when initial investigations are inconclusive. Early recognition is essential to ensure appropriate management and to avoid the burden of delayed diagnosis.

Development of external morphological malformations induced by hyperthermia exposure during the blastula stage in an ex-ovo (shell-less) culture of Gallus gallus domesticus embryos.

Long-term outcomes of "clam" bladder augmentation in a pediatric population with neurogenic refractory bladder dysfunction: A 20-year follow-up experience at single center.

Sacrococcygeal Teratomas in Currarino Syndrome: A Multicenter Review of Tumor Characteristics, Surgical Outcomes, and Recurrence.

Background: Rat tail syndrome is a descriptive term occasionally used to refer to rare distal spinal hypoplasia resembling a thin, tapering tail. It often falls under the spectrum of caudal regression syndrome (CRS), a rare congenital disorder characterized by partial or complete agenesis of the sacrococcygeal spine. CRS is typically associated with maternal diabetes and other syndromic conditions, although idiopathic cases can occur. Case-Presentation: We report the case of a 1-year-old female infant, the first-born child of healthy non-consanguineous parents. She was delivered at term via normal vaginal delivery, with an uneventful perinatal period and no neonatal intensive care requirement. There was no maternal diabetes or antenatal complications. Patient had a swelling since birth which gradually increased in size and during a routine pediatric check-up, abnormal spinal curvature and a blunted gluteal cleft were noted. Neurological examination revealed mild hypotonia in the lower limbs with normal bladder and bowel function. MRI of the lumbosacral spine revealed hypoplastic sacrococcygeal vertebrae, a low-lying conus medullaris ending at L5 and a thickened filum terminale—findings consistent with tethered cord syndrome within the CRS spectrum. The patient underwent successful untethering surgery via laminectomy. Postoperative recovery was uneventful, and at 6- month follow-up, she demonstrated improved tone and independent walking. Conclusion: This case highlights a rare, idiopathic presentation of caudal regression syndrome resembling rat tail morphology in a healthy term infant. Early detection through clinical suspicion and imaging, followed by timely surgical intervention, can significantly improve neurological outcomes and prevent long-term complications

Caudal regression syndrome (CRS) is a malformation that occurs during the fetal period, and is mainly characterized by the incomplete development of the spinal cord (SC), which is often accompanied by other developmental abnormalities. The present study was performed in a 2-month-old boy with CRS, born to a type I diabetic mother, who presented interruption of the SC at the L5-L4 level, pelvic dislocation, sacral agenesis, hypoplastic femurs, lack of innervation of the lower limbs (spastic paraplegia), and a neurogenic bladder and bowel. Given the positive results we obtained in a previous study in a similar case, this patient was treated with GH (0.04 mg/kg/day, 5 days/week), melatonin (20 mg/day), and rehabilitation. The treatment only lasted 18 months, due to family problems. Blood tests and physical examinations were performed every 3 months initially and then every 6 months. Interestingly, despite GH administration, the child presented low plasma glucose and IGF-I values, which did not increase throughout the treatment, although there was significant growth of the patient, also indicated by elevated plasma alkaline phosphatase values. At the end of treatment, the gross motor function test (GMFM)-88 score increased from 0.93 (on admission) to 47.94. Sensory responses appeared in the lower limbs, and the patient was able to move his leg muscles in all directions and control his sphincters. Ten months after discharge, the patient was able to walk only with the aid of a back walker. GH treatment did not produce any adverse effects. In summary, despite the short duration of treatment, GH plus rehabilitation has been useful in innervating distal areas below the level of the incomplete spinal cord in CRS. GH likely acted on ependymal neural stem cells, as the hormone does on neurogenic niches in the brain, and rehabilitation helped achieve near-full functionality.

Abstract Popliteal pterygium syndrome (PPS) is a rare dominant inheritance. There are no reports in the literature of children with PPS associated with caudal regression syndrome. This case report represents a plan of action for perioperative anesthetic management of a popliteal pterygium correction surgery in a 3-year-old child. The patient was operated on under general anesthesia with endotracheal intubation facing challenges of a difficult airway. Central venous access catheterization and invasive blood pressure were required for hemodynamic management. There were challenges for postoperative analgesia requiring the use of ultrasound to guide the decision. The surgery was uneventful with the patient extubated in the operating room and transferred to the intensive care unit.

Caudal regression syndrome (CRS) is a spectrum of disorders of caudal vertebral agenesis or dysgenesis, involving the caudal spinal column, that is associated with other congenital anomalies. The majority of caudal regression cases are sporadic but maternal pre-gestational diabetes is the main risk factor. Imaging is an integral part of management of caudal regression syndrome. Antenatal diagnosis on obstetric ultrasound and evaluation with fetal MRI is ideal. Early postnatal diagnosis and/or detailed evaluation with MRI is essential for early management to improve outcomes.

Effective use of frequent enemas and abdominal care in a very-low-birth-weight infant with caudal regression syndrome.

Diabetes mellitus as a teratogen causing caudal regression syndrome

Caudal regression syndrome (CRS) and congenital spinal dermal sinus tract (CSDST) are two complex closed spinal dysraphism without subcutaneous mass. Embryo-pathogenesis behind CRS is deemed to be a fault during gastrulation, however CSDST is a result of defective focal disjunction during primary neurulation. While many associated congenital anomalies have been described with both of these entities, only a few literatures have ever described CRS and CSDST in unison. We present a case with both type 1 CRS with an intramedullary syringohydromyelia and a congenital spinal dermal sinus tract, with their multimodality imaging findings. Prompt identification and accurate diagnosis of CRS is cardinal for initiation of early and appropriate management, before the herald of dreadful complications. CSDST is a remnant tract arising superficially from the skin or subcutaneous plane, extending deep and terminating variably at the spinal cord, meninges or myofascial plane. A newborn’s neural system is usually preserved, with usual presentation being with skin stigmata. Nevertheless, this apparently benign sounding entity is associated with various other spinal dysraphisms and predispose the patient to multiple dreadful complications. Thus, a complete evaluation of a dorsal opening is cardinal and a conservative management is discouraged.

Caudal regression syndrome (CRS), also known as caudal dysgenesis, consists of a constellation of caudal developmental anomalies along with soft-tissue anomalies. The severity of its spectrum ranges from lumbosacral agenesis to isolated absence of coccyx. The pathophysiology of the disease is not fully known due to its rarity. In this case report, we present a case study of CRS observed in a preadolescent school-aged male child. Our objective is to contribute to advancing the literature surrounding this exceedingly rare syndrome and contextualise our findings within the broader research landscape.

Optimizing sacral screw fixation in patients with caudal regression syndrome.

Congenital Risk Factors for Chronic Kidney Disease in Patients With Persistent Cloaca: Results From a Nationwide Survey in Japan

Cloacal malformations are rare and are typically reported in females. There are a few scattered reports in males. It is not clear why they are so rare in males since both sexes negotiate this stage of embryonal development. The present study aims to share our experience and review all the cases of persistent cloaca and cloacal variants in males reported in the literature. The male cloaca is defined as a single common channel of varying lengths with separate inlets for the urinary tract (urethra) anteriorly and the rectum posteriorly at its cranial end and with a solitary perineal orifice/opening for external drainage. We also carried out an electronic literature search for cloaca, persistent cloaca, common cloaca, cloacal dysgenesis, cloacal malformation, cloacal membrane agenesis, urorectal malformation sequence, rectourinary perineal fistula, sirenomelia, and caudal regression syndrome. After eliminating other cloacal anomalies and persistent cloaca in females, we found a total of 22 males with persistent cloaca or cloacal variant reported in the literature. In addition, we are adding two cases we have managed since our previous report. An effort should be made to search for the presence of the common channel in male patients with a single perineal opening. Recognition of the anomaly, width of the common cloacal channel, location of the rectal pouch with relation to the sacrum or pubis, status of the spine and sacrum, and nature of the anal sphincter are vital pieces of information to successfully manage the anomaly. It would be worthwhile if future reports on the subject also include long-term information about urinary and fecal functions and continence.

The aspect of sexual differentiation and the mechanism controlling the position of genitalia, which represents one of the most substantial differences between the sexes, is still poorly understood. Minor cases and some variants of penoscrotal transposition (PST) are unreported, and obvious cases were classified broadly and confused with other unrelated anomalies. Relevant literature published till 2022 were reviewed then organized, recapitulated, and presented in comparison with the findings and data of 65 child diagnosed with PST. So, an integrated comprehensive approach to this uncommon condition enabled a new classification including few unreported variant cases, which were complemented. PST is classified herein into a cephalic or caudal scrotal migration, the cephalic type subdivided into major and minor subtypes the latter type subdivided into bilateral, unilateral or central subtypes. Cases of caudal scrotal regression is an unreported anomaly in which the scrotum located caudally, as constant association with epispadias/exstrophy anomalies leaving a wide distance between the fixed penis and the scrotal sacs. PST is not rare as it was believed, it occurs in two directions; cephalic and caudal directions. Scrotal caudal regression anomaly was not described before, as well the PST presented as an inguinal hernia.