Case Of Caudal Regression Syndrome 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.

A case of diabetic fetopathy: caudal regression syndrome and associated anomalies

Uncontrolled periconceptional diabetes in mother can give rise to severe malformation in the offspring. Author describe a case of diabetic fetopathy presenting as a case of Caudal regression syndrome along with cardiovascular, gastrointestinal and genitourinary anomaly. Though most cases of Caudal regression syndrome are sporadic, it is the most specific lesion of diabetic fetopathy. Clinical presentation varies depending on the severity of the neurological lesion along with the presence of other anomalies, most commonly genitourinary malformation. The index case described here had a type IV lumbosacral agenesis with severe bilateral motor and sensory deficits along with D-Transposition of great arteries and Pyloric atresia. Such cases arise due to inadequate prenatal care of diabetic mother, which is not uncommon in developing country like India.

Caudal regression associated with pre-gestational type 2 diabetes mellitus

Caudal regression syndrome is a spectrum of congenital structural defects associated with uncontrolled pre-gestational diabetes mellitus. Prevalence of this disease is 1 to 2.5 in 100,000 live births and background pre-gestational diabetes increases the risk by 200 fold. We present a case of caudal regression syndrome in a mother having type 2 diabetes mellitus with poor glycaemic control since preconceptional period and early gestation. The condition was diagnosed during anomaly scan at 20 weeks of gestation. Uncontrolled pre-existing diabetes is the most common aetiology for caudal regression syndrome. Therefore, proper preconceptional counseling is essential to optimize blood sugar levels in pre-gestational diabetic women. Carrying out anomaly scans around 20 weeks play a pivotal role in high risk cases in diagnosing foetal anomalies.

P02.02: Multiplane and skeletal mode of 3D ultrasound for prenatal diagnosis of vertebral deformation and closed spina bifida

This study aimed to explore the value of multiplane and skeletal mode of 3D ultrasound for prenatal diagnosis of vertebral formation failure and closed spina bifida. This study included sonographic data from 22 fetuses suspected to have spine deformations. Three-dimensional reconstruction was performed on selected areas when spine malformation or conus medullaris lower than L3 was suspected. Multiplane of 3D ultrasound was used to analyse the type of vertebral deformation, and skeletal mode was to assess the location of vertebral deformation or conus medullaris. This study revealed vertebral deformation in 22 cases, including 6 cases of hemivertebrae, 3 cases of butterfly vertebrae, 3 cases of coronal cleft vertebra. Moreover , this study also revealed 10 cases of low-lying conus medullaris, which was closed spina bifida with 7 cases of spinal meningocle and 3 cases of caudal regression syndrome. Multiplane is helpful for determination of the type of vertebral formation failure. Skeletal mode is helpful for assessing the location of the spinal deformities in the developing fetus.

Caudal Regression Syndrome : A Case Report

Caudal Regression Syndrome (CRS) is a spectrum of congenital malformations, which consist of anomalies of the rectum, the urinary and genital systems, the lumbosacral spine, and the lower limbs. Though exact cause that leads to caudal regression syndrome is still unknown but it is believed that genetic influence as well as maternal pathologic factor related to carbohydrate metabolism plays an important role. The severity of morphologic disorder depends on residual spinal cord function. Infant may present with mild to severe neurological involvement with or without visceral anomaly. Here, we report a case of caudal regression syndrome in an 18 months old girl and presented with hypoplastic lower limb and bladder incontinence.Chatt Maa Shi Hosp Med Coll J; Vol.15 (2); Jul 2016; Page 57-60

First Trimester Sonographic Findings of Caudal Regression Syndrome

AbstractWe report a case of caudal regression syndrome in a 31-year-old primigravida having type-1 diabetes mellitus for the past eight years who was referred to our institution for a first trimester sonogram. Prenatal ultrasound examination revealed a crown rump length less than the period of amenorrhea with abrupt interruption of the spine beyond the lumbar region. There was complete absence of the sacral vertebrae with a persistent ‘frog-like’ posture of the lower limbs. After extensive counseling, termination of pregnancy was opted for and the autopsy findings confirmed the diagnosis.

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.

Caudal regression syndrome with a solitary kidney: A case report and review of the literature

Caudal regression syndrome (CRS) is a rare, congenital anomaly that is often complicated by a neurogenic bladder. Congenital anomalies of the kidney and urinary tract in aforesaid patient present an added challenge in the management. The aim and objective of this study is to report a rare case of CRS with neurogenic bladder and right solitary hydronephrotic kidney. The patient was a 3-year-old female infant with burdensome lower urinary tract symptoms and congenital back and lower limbs deformities. Her examination unveiled vertebra and lower limbs anomalies. The computed tomography scan showed lumbosacrococcygeal agenesis with a right solitary hydronephrotic kidney. She was treated for urinary tract infection at presentation, after which cystometry confirmed high-pressure neurogenic bladder. She did well to the initial continuous bladder drainage and the ensuing oxybutynin with clean intermittent catheterization. Instantaneous management of the bladder dysfunction prevents potentially permanent solitary renal dysfunction and the secondary bladder malfunction in a patient with CRS and neurogenic bladder.

Caudal regression syndrome with vestigial tail and esophageal duplication cyst

Caudal dysgenesis constitutes a heterogeneous spectrum of congenital caudal anomalies, including varying degrees of developmental defects of the vertebral column, as well as anorectal and genitourinary anomalies. Herein, we are reporting a case of caudal regression syndrome with imperforate anus, bilateral renal hypoplasia, vestigial tail and esophageal duplication cyst in a baby of non-diabetic mother, with history of non-consanguineous marriage.

2069007 Caudal Regression Syndrome: A Case Report and Review of Literature

To report an interesting case of Caudal Regression Syndrome diagnosed intra-utero, to compare ultrasound and magnetic resonance findings and also to perform a brief literature review on this subject. This is a Case Report and Literature Review. 21 years-old female, primigravida with uncontrolled Class C diabetes was referred to to our Maternal Fetal Medicine Service for second trimester anatomy ultrasound. The scan detected a singleton pregnancy of 21 weeks and 3 days and estimated fetal weight of 433g. The fetus had bilateral clubfoot and reduced vertebrae number of the lower spine with a total of 3 lumbar and 2 sacral vertebras. The picture was suggestive of Caudal Regression Syndrome and Agenesis of lower spine. Patient was referred to a fetal MRI at 34 weeks and the findings were compatible with ultrasound ones. Patient was submitted to an elective cesarean section at term for maternal request. Computed tomography and spine x-ray of the neonate showed absence of lumbar vertebrae L4 and L5 and fusion of sacral vertebrae confirming the diagnosis of Caudal Regression Syndrome with Sacral Agenesis type 1. Caudal regression syndrome consists of a spectrum of structural defects of the caudal region, including incomplete development of the sacrum and sometimes of the lumbar vertebrae. This syndrome seems to occur with increased incidence in children of insulin-dependent diabetic mothers, although the mechanisms for this association are not clear. It also might be associated with genetic predisposition and vascular hypopefusion. The clinical presentation is highly variable, depending on the level of the spinal lesion. Affected infants may appear to have a small pelvis, neurogenic bladder, and variable degrees of limb deformity, depending on the level of the defect. Prenatal ultrasound is the standard for the diagnosis of fetal anomalies. However, fetal MRI has emerged as a valuable diagnosis tool to complete the study of fetal malformations. The approach of those cases should be multidisciplinar since treatment options are limited and the outcomes usually irreversible.

A Rare Case of Caudal Regression Syndrome linked to Tethered Cord and Dermal Cysts

A Rare Case of Caudal Regression Syndrome linked to Tethered Cord and Dermal Cysts

A case of caudal regression syndrome: walking or sitting?

Caudal regression syndrome (CRS) is a congenital disorder which is seen vertebral anomalies in varying degrees from lower thoracic spineto the level of the coccyx. We present a case of CRS which is not intended operation for orthopedic deformities considering functionality. 2, 5 year-old girl referred to our clinic with complaints about walking disability, knee and foot deformities. Patient's mother with unregulated diabetes did not have a history of drug use, radiation exposure and serious illness during pregnancy. Diagnosis had been put during antenatal follow-ups. On physical examination, her lower extremities were hypoplastic and had no muscle activity. Her hips were flexed and abducted, but did not have contractures. Her knees had 75 degrees of flexion contractures with popliteal webs and feet had equinovarus deformity. Frog belly was present due to abdominal muscles weakness. Also hypoplasic labia majora has been identified. In lumbar MRI, spinal cord was terminated at 6th thoracic (T6) vertebrae and the last solid vertebrae level was at T10. Patient who has been following by urology with clean intermittent catheterization had also severe urological problems including horseshoe kidney, neurologic bladder, vesico-ureteral reflux and grade 2 hydronephrosis. Orthopedic consultation was made for her deformities. They decided that ambulation unexpected patient's knee flexion contractures were helping sitting balance. Because of this operation was not considered. Prognosis, treatment options, strength exercises for upper extremities, skin care were told to parents and patient was taken to follow. CRS is a rare congenital abnormality which is associated with orthopedic deformities, as well as urological, anorectal and cardiac malformations. Treatment requires a multidisciplinary approach. It should not be forgotten that purpose of rehabilitation is not to correct all deformities but increase the functionality of everyday life.

Neuropathic Bladder Caused by Caudal Regression Syndrome without Any Other Neurogenic Symptoms

Caudal regression syndrome (CRS) is a rare congenital vertebral anomaly, which occurs most often in combination with spinal cord malformations and morphologic dysfunctions of the lower extremities; these signs are useful for both patients and clinicians in the diagnosis of this syndrome. However, in certain cases, clinicians have failed to identify the syndrome due to the lack of apparent anomalies, resulting in the progression of renal dysfunction caused by neuropathic bladder when CRS is eventually identified. Here, we report a case of a 2-year-old girl who was referred to our hospital for vesicoureteral reflux. At examination, she presented no neurological symptoms; however, on cystourethrography and CT scanning we found that the sacral bone was absent, through which CRS was diagnosed. A urodynamic study indicated detrusor-sphincter dyssynergia, and clean intermittent catheterization was initiated. In the present report, we describe a case of CRS with no neurologic symptoms other than a neuropathic bladder. The lack of outward signs can result in delayed diagnosis. Thus, urological examinations, including a urodynamic study, might be the only clue for identifying an underlying neurologic injury involving the lower spinal cord.

Prenatal diagnosis of caudal regression syndrome: A case report

미단부퇴행증후군(caudal regression syndrome)은 하부 척추의 무 발생 및 다양한 위치에서의 결손과 함께 다른 계통의 복합적인 기형을동반하는 매우 드문 선천적 질환이다. 이 드문 질환은 임산부의 당뇨와 관련된 고혈당 및 유전적 소인, 기형 발생 물질, 관류저하 등이 관여하고 있을 것이라고 여겨지고 있으나 아직까지 정확한 원인은 밝혀져 있지 않다. 최근 저자들은 기저질환 및 관련 요인이 없는 임산부에서 산전초음파를 통해 미단부퇴행증후군을 진단하였기에 간단한 문헌 고찰과 함께 보고하는 바이다.

Lumbopelvic stabilization with external fixator in a patient with lumbosacral agenesis

A case of caudal regression syndrome in which rehabilitation was obtained by lumbopelvic distraction and stabilization with external fixation Orthofix(®) is presented. The objective of the study is to describe the benefit of spine external fixator in caudal regression syndrome. Caudal regression syndrome is a rare and sporadic neural defect of distal spinal segments affecting the development of the spinal cord. It is characterized by vertebropelvic instability and essentially manifests as neurological deficit in the lower limbs and absence of bladder and bowel control. Pluridisciplinary management of this affection is complex. The clinical presentation and treatment of caudal regression syndromes are reviewed. A case of a boy for whom physical rehabilitation was obtained with external fixation Orthofix(®) is presented. Lumbopelvic stabilization was performed with autograft and allograft bone. A spine distraction was performed with external fixation with pedicular screws in L1 and L2 and in the pelvis bone. An elongation of 19mm was obtained in 35days. The external fixator was removed after 4months and a spine cast was applied during 8months. This treatment resulted in lumbopelvic nonunion of very low mobility. Lumbopelvic stability and the disappearance of pain were achieved. Sitting position was stable without hand support. At 14years of follow-up, his condition is stable with possible deambulation at home with crutches. Lumbopelvic arthrodesis in caudal regression syndrome is difficult to obtain. The use of spine external fixator, however, allows trunk elongation and can achieve a stable sitting and upright position.

Three dimensional ultrasound diagnosis of caudal regression syndrome at 14 gestational weeks

Caudal regression syndrome (CRS) is a rare complex abnormality, characterized by agenesis of the sacrum and lumbar spine, with lower limb neurological deficit and accompanying deformities of the pelvis, lower extremities, genitourinary, gastrointestinal and cardiac systems. Pregnancies complicated by insulin treated diabetes carry higher risk of fetal CRS than non-diabetic pregnancies. Three dimensional (3D) and four dimensional (4D) ultrasound may assist in early detection of CRS. We report a case of CRS diagnosed by 3D and 4D ultrasound examination at 14 weeks of gestation in a diabetic patient.

Closure of the defect resulting from caudal regression syndrome with duplicated rectum

Caudal regression syndrome covers a range of congenital malformations that range from simple anal atresia to absence of sacral, lumbar, and possibly lower thoracic, vertebrae. To the best of our knowledge, this is the first case of caudal regression syndrome combined with rectal duplication. We present a case and describe our technique of reconstruction.

Pre-natal diagnosis of caudal regression syndrome.

Caudal regression syndrome is a rare syndrome characterized by absence of the lower spine to a varying degree. It has particularly high incidence in patients with Insulin Dependent Diabetes Mellitus (IDDM). We report a case of caudal regression syndrome in a newly diagnosed case of IDDM at 30 weeks of gestation.

Caudal regression syndrome associated with the white matter lesions and chromosome 18p11.2 deletion

Caudal regression syndrome (CRS) is a rare combination of congenital abnormalities characterized by caudal vertebral agenesis/dysgenesis that is usually associated with congenital anomalies of spinal cord, gastrointestinal and genitourinary organs. Although the exact teratogenic mechanism is not known, same environmental, e.g., hyperglycemia and genetic factors appears to play a crucial role in this fetopathy. Herein, we report an unusual case of CRS associated with unspecific white matter lesions and 18p-syndrome manifested by congenital ptosis, hypothyroidism, facial dysmorphy and chromosome 18p11.2 deletion.

Caudal Regression Syndrome in the Infant of a Woman with Pregestational Diabetes

Summary Objective Caudal regression syndrome is a rare congenital anomaly. We report a case of caudal regression syndrome and emphasize the importance of preconception care and periconceptional euglycemic control, which should have been provided much earlier for this diabetic mother. Case Report This neonate with caudal regression syndrome was born to a 33-year-old Chinese woman with pregestational diabetes. Postpartum magnetic resonance imaging of this female infant showed agenesis of the lumbosacral spine from L5 and partial agenesis of L4. In spite of being diagnosed with gestational diabetes in her previous third pregnancy, the diabetic mother had received no postpartum follow-up or preconception care in the current pregnancy. Conclusion Preconception care and postpartum follow-up for women with diabetes is important. Outpatient preconception care is needed to reduce the risk of major congenital anomalies among the offspring of women with pregestational diabetes mellitus.