Caudal regression syndrome (CRS) is a rare genetic disorder affecting less than 0.1%-0.5% of newborns that manifests as the total or partial absence of lower vertebral structures including the sacral spine. The etiology of CRS remains elusive, but there is compelling evidence supporting a genetic predisposition and a correlation with maternal diabetes. This study presents the case of a 7-year-old girl exhibiting symptoms consistent with CRS including lower limb deficits, abnormal gait, urinary incontinence, and scoliosis. The findings from an MRI scan revealed notable anomalies such as hemivertebra in the dorsal spine, renal deformities, and the absence of secondary neurulation elements in the spine. We chose to delay the hemivertebra surgery because the scoliosis was not highly pronounced. Rather, we directed the child to the urology department for the management of her kidney deformities. This case contributes to the understanding of CRS and underscores the importance of comprehensive diagnostic approaches in elucidating its complex manifestations.

BACKGROUND: Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation.
RESULTS: This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children\'s health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.
CONCLUSIONS: This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.

Caudal regression syndrome is a form of segmental spinal dysgenesis involving the caudal spinal column, ranging from segmental coccygeal agenesis to extensive thoracolumbar agenesis with varying degrees of spinal cord dysgenesis. A majority of caudal regression cases are sporadic but maternal pre-gestational diabetes mellitus is an important 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. Pang classification categorizes caudal regression syndrome into two categories based on the position of the conus while Renshaw classification is based on the degree of vertebral column agenesis. Caudal regression syndrome may be associated with several additional anomalies, both spinal and extraspinal. A number of genitourinary and gastrointestinal anomalies have been described in association with caudal regression syndrome. The field of view of MRI of the lumbosacral spine in caudal regression syndrome needs to be extended to visualize the retroperitoneal structures without the use of a saturation band. Syndromic associations may be suspected, and additional imaging performed, based on findings of extended field of view MRI of the spine. Associated sacral masses and filar abnormalities need to be identified and may also require surgical treatment. The multisystem nature of this disease necessitates a multimodality approach to the evaluation and management of caudal regression syndrome with close cooperation between pediatric neuroradiologists and body radiologists as well as multiple clinical teams. Appropriate early management with surgical correction as necessary can significantly improve prognosis and survival in caudal regression syndrome.

OBJECTIVE: To analyze the relationship between spinal cord and vertebral abnormalities from the point of view of embryology.
METHODS: We analyzed the clinical and radiological data of 260 children with different types of spinal cord malformations in combination with vertebral abnormalities.
RESULTS: Among 260 individuals, approximately 109 presented with open neural tube defects (ONTDs), 83 with split cord malformations (SCMs), and 83 with different types of spinal lipomas. Pathological spina bifida emerged as the most frequent vertebral anomaly, affecting 232 patients, with a higher prevalence in ONTD. Vertebral segmentation disorders, including unsegmented bars, butterfly vertebrae, and hemivertebrae, were present in 124 cases, with a higher prevalence in SCM. The third most common spinal anomaly group consisted of various forms of sacral agenesis (58 cases), notably associated with blunt conus medullaris, spinal lipomas, and sacral myelomeningocele. Segmental aplasia of the spinal cord had a typical association with segmental spinal absence (N = 17).
CONCLUSIONS: The association between SCM and neuroenteric cyst/canal and vertebral segmentation disorders is strong. High ONTDs often coincide with pathological spina bifida posterior. Type 1 spinal lipomas and focal spinal nondisjunction also correlate with pathologic spina bifida. Segmental spinal absence or dysgenesis involves localized spinal and spinal cord aplasia, sometimes with secondary filar lipoma.

BACKGROUND: Sacral agenesis (SA) includes a range of clinical presentations of varying severity, with implications for function and quality of life (QoL). Diagnosis is often made perinatally, and prognostic discussions become an important aspect of parental counselling. This study engaged SA sufferers and their caregivers to obtain objective, long-term patient reported outcome data.
METHODS: Patients with radiologically confirmed SA from a single tertiary spinal unit underwent retrospective medical record review. Patients were then contacted by telephone to complete QoL questionnaires including EQ-ED-5L for adults and EQ-ED-Y for < 16-year-olds. Additional information including Renshaw grade, employment, living situation and bladder function was also collected.
RESULTS: Twenty-six patients with SA were identified. Mean age is 23.35 years (range 0.92-63.53), 13 M:17F. Renshaw grade ranged from 1 to 4. Sixty-eight percent had associated kyphoscoliotic deformities. The majority (70%) had either impaired or absent bladder control, and 80% need walking aids to mobilise. Twenty patients completed the questionnaire (10 adults and 10 < 16-year-olds). Mean EQ-ED-5L index for adults was +0.474 (range -0.1 to +0.089, 1 = best), with a lower mean value of +0.287 (range -0.54 to +1) for the < 16-year cohort. Those undergoing spinal fusion procedures had significantly lower scores (-0.08 v +0.44, p = 0.022).
CONCLUSIONS: This study provides an objective record of the QoL of individuals with SA, illustrating a wide variety of outcomes, with differences between younger and older individuals which may reflect the results of a long-term adaptive process. The implications for individuals should be carefully tailored to the specific deformity and the likely underlying neurological deficits.

Sacral agenesis (SA) is a rare condition characterized by the absence of one or more lower sacral vertebral bodies. In India, children with this condition often present late with symptoms primarily related to urinary and bowel dysfunction. Maternal diabetes is the only confirmed risk factor, significantly elevating the incidence rate. We discuss a case of a nine-year-old female who presented to the pediatric outpatient department (OPD) with chronic constipation and urinary retention, having experienced symptoms since infancy. Initial investigations at peripheral hospitals had yielded no clear diagnosis, leading to undue psychological distress to the child and family. The child had been born to a mother with diabetes mellitus during pregnancy. Physical examination revealed mild dehydration, anemia, and sacral dimpling. Further evaluation showed renal injury and SA confirmed by MRI, along with other associated findings. This case report highlights the importance of early diagnosis and intervention in pediatric SA, especially given the risk of renal disease progression. The treatment in this case included clean intermittent self-catheterization (CIC), dietary management, and counseling on renal health. Crucially, uncovering the root cause provided immense psychological relief to the child and her family. Pediatric SA remains a diagnostic challenge, often leading to psychological distress in affected individuals who present late. Early recognition and comprehensive management are crucial, especially in cases associated with maternal diabetes, to mitigate the risk of renal complications and improve the overall quality of life for affected children.

UNASSIGNED: Sacral agenesis is a rare congenital condition that is characterized by sacrococcygeal bone agenesis. It is associated with spinal cord anomalies as well as problems with the genitourinary system, large bowel, and lower extremities. Fetal ultrasound allows for diagnosis even before birth.
UNASSIGNED: The authors present the case of a 1-year-old girl with sacral agenesis type III and bilateral congenital talipes equinovarus with spina bifida who was born to a nondiabetic mother and had a normal anomaly scan.
UNASSIGNED: People with less severe forms of sacral agenesis can live a normal life, and it is not connected with cognitive impairment; however, concomitant bladder, colon, and lower limb disorders cause considerable morbidity. The majority of treatment is supportive, frequently requiring orthopedic, urological, gastroenterological, pediatric, and physiotherapy support.
UNASSIGNED: Genetic and prepregnancy counseling, as well as early screening of high-risk mothers, remain the only options for prevention of the disease since treatment is mostly supportive.

Two boxer dogs from the same litter were presented at 3 months of age for urinary and fecal incontinence. Both dogs had an abnormal tail consisting of a small stump, an atonic anal sphincter, and absent perineal reflex and sensation. Neurological evaluation was indicative of a lesion of the cauda equina or sacral spinal cord. Radiology and CT scan of the spine displayed similar findings in the two dogs that were indicative of sacral agenesis. Indeed, they had 6 lumbar vertebrae followed by a lumbosacral transitional vertebra, lacking a complete spinous process, and a hypoplastic vertebra carrying 2 hypoplastic sacral transverse processes as the only remnant of the sacral bone. Caudal vertebrae were absent in one of the dogs. On MRI, one dog had a dural sac occupying the entire spinal canal and ending in a subfascial fat structure. In the other dog, the dural sac finished in an extracanalar, subfascial, well-defined cystic structure, communicating with the subarachnoid space, and consistent with a meningocele. Sacral agenesis-that is the partial or complete absence of the sacral bones-is a neural tube defect occasionally reported in humans with spina bifida occulta. Sacral agenesis has been described in human and veterinary medicine in association with conditions such as caudal regression syndrome, perosomus elumbis, and Currarino syndrome. These neural tube defects are caused by genetic and/or environmental factors. Despite thorough genetic investigation, no candidate variants in genes with known functional impact on bone development or sacral development could be found in the affected dogs. To the best of the authors\' knowledge, this is the first report describing similar sacral agenesis in two related boxer dogs.

Caudal regression syndrome (CRS) is a rare inherited disorder associated with orthopedic deformities, as well as urological, anorectal, and spine malformations. We present 3 cases of CRS found in our hospital, along with the respective radiologic and clinical findings of the disease. With different problems and chief complaints from each case, we propose a diagnostic algorithm that can be used as a helpful tool in managing CRS. CRS is a complex and rare congenital disorder that affects multiple systems and can result in a range of malformations. The diagnostic algorithm proposed from our findings from 3 CRS cases is important to help healthcare providers identify the types of CRS and apply a more individualized approach to improve the quality of life for the patient.

Caudal regression syndrome is a relatively rare congenital disorder that consists of a constellation of caudal developmental growth abnormalities and associated soft tissue anomalies. The severity of its spectrum ranges from lumbosacral agenesis to isolated absent coccyx. We report two cases of caudal regression syndrome that were diagnosed in utero at different gestational ages by prenatal ultrasound followed by fetal MRI for a complete assessment of the associated imaging features. When used in association with antenatal ultrasonography, fetal MRI is particularly instructive in the prenatal diagnosis of caudal regression syndrome since it overcomes the limits of obstetric ultrasound, provides additional information, including associated local soft tissue abnormalities and manifestations of syndromic processes, and allows for a more accurate evaluation of the spinal cord.