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

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Yoshinobu Moritoki ◽  
Yoshiyuki Kojima ◽  
Hideyuki Kamisawa ◽  
Kentaro Mizuno ◽  
Kenjiro Kohri ◽  
...  

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.

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Kavinda Dayasiri ◽  
V. Thadchanamoorthy ◽  
Kaushika Thudugala ◽  
Aruni Ranaweera ◽  
N. Parthipan

Caudal regression syndrome is a rare disorder of developmental failure of lumbosacral vertebra and corresponding spinal cord during notochord formation. The severity varies from absent coccyx to complete absence of lumbosacral vertebra and caudal spinal cord. Both genetic and environmental factors are believed to play roles in aetiopathogenesis of caudal regression. The authors report a two-month-old child born to a diabetic mother, in whom the diagnosis of caudal regression syndrome type III was confirmed based on clinical and radiological characteristics. The child was managed by the multidisciplinary team to continue supportive care and screen and monitor for long-term complications. The long-term prognosis for mobility was less favourable given the presence of bilateral hip dysplasia and involvement of lumbar vertebra in addition to sacral agenesis.


2013 ◽  
Vol 3 ◽  
pp. 26 ◽  
Author(s):  
Pankaj Sharma ◽  
Sheo Kumar ◽  
Awdesh Jaiswal

Caudal regression syndrome (CRS) is a rare congenital abnormality in which a segment of the lumbo-sacral spine and spinal cord fails to develop. The severity of the morphologic derangement inversely correlates with residual spinal cord function. We present a case report of a 10-year-old girl with Group 2 CRS, to emphasize clinical and radiologic findings in this rare abnormality.


Author(s):  
Jesús Devesa ◽  
Alba Alonso ◽  
Natalia López ◽  
José García ◽  
Carlos Israel Puell ◽  
...  

Caudal regression syndrome (CRS) is a congenital abnormality characterized by an incomplete development of the spinal cord (SC) and other abnormalities. We studied a 9-months old CRS child presenting: interruption of SC at L2-L3 level, sacral agenesis, lack of innervation of the inferior limbs (flaccid paraplegia) and neurogenic bladder and bowel. Given the effects of growth hormone (GH) on the proliferation, differentiation and migration of neural stem cells (NSCs), we treated him with GH and rehabilitation, trying to induce the recovery of main sequelae. GMFM-88 test score was 12.31%. After a blood analysis, GH treatment (0.3 mg/day, 5 days/week, 3 months and then 15 days without GH) and rehabilitation commenced. This protocol was followed during 5 years, being the last GH dose 1 mg/day. Blood analysis and physical exams were performed every 3 months initially and every 6 months later. Six months after commencing the treatment GMFM-88 score increased to 39.48%. Responses to sensitive stimuli appeared in most of the territories explored; 18 months later sensitive innervation was complete and the patient moved any muscle over the knees and controlled his sphincters. Three years later he walked with the help of canes, there was plantar flexion and GMFM-88 score was 78.48%. In summary, GH plus rehabilitation may be useful for innervating distal territories, below the level of the incomplete spinal cord in CRS. Most likely, GH acts on ependymal SC NSCs, as the hormone does in the neurogenic niches in the brain.


1991 ◽  
Vol 81 (4) ◽  
pp. 458-466 ◽  
Author(s):  
J. Towfighi ◽  
C. Housman

2019 ◽  
Vol 18 (4) ◽  
pp. 126-132
Author(s):  
M. G. Besplitnik

Various anomalies of spinal column development have common clinical manifestations. However, each defect has certain features that affect the nature of the deformity, the rate of its progression, the function of the spinal cord and the possibility of developing neurological disorders. An increase in deformation in the anomaly zone can lead to segmental instability at this level, which further cause disturbance of the biomechanics of the spine in general. The cervical section is the most mobile section of the spine, which is provided by the structure of the Atlantic-axial complex and functional mobility of the subaxial section. The detected anomaly should be evaluated in terms of the likelihood of developing instability. Mechanical instability is manifested by the displacement of vertebrae beyond the physiological range of movements. Neurological instability is mostly manifested in the subaxial section of the spine, as the reserve space of the spinal canal is extremely small. Congenital abnormalities of the thoracic spine that lead to deformity are the most common defects against the ground of impaired formation of vertebral bodies. Children with congenital kyphosis are motionless, and dyspnea occurs while walking fast or jogging. Surgical treatment of kyphotic deformities of the thoracic and lumbar spine is one of the most difficult problems in modern orthopedics, the relevance of which is stipulated by a relatively high frequency of unsatisfactory results of treatment. Lumbarisation is a congenital malformation of the spine, accompanied by the formation of an additional lumbar vertebra, which is formed from the superior sacral vertebra that has not fused into a single bone with the other sacral vertebrae. The frequency of occurrence is unknown, because lumbarisation in some cases is asymptomatic and undiagnosed. Depending on the nature of anatomical changes and the peculiarities of the influence on the dynamic and static functions of the spine, unilateral and bilateral lumbarisation are distinguished. Both unilateral and bilateral forms can be bone, cartilage and joint. The development of pain is characteristic only of the joint form of lumbarisation. Caudal regression syndrome is a rare severe congenital malformation of the distal spine and spinal cord. Clinically the disease is accompanied by hypoplasia of the lower half of the trunk and extremities due to a gross defect in the development of the caudal spine and spinal cord. Depending on the level and severity of the lesion of the latter there is a different stage of neurological deficit. In most observations, caudal regression syndrome is combined with defects in other organs and systems. Depending on the level of damage to the spine, coccyx, sacral, lumbar and even lower thoracic vertebrae may be absent, which determines the variant of the defect. An extremely severe form of caudal regression is called sirenomelia, or "mermaid syndrome". A sign of this anomaly is the fusion of the lower extremities. The fusion can be osseous or within soft tissue. In most cases with sirenomelia renal agenesis is observed, the colon ends blindly, the external and internal genitalia are absent, a single umbilical artery and anus atresia are detected. The quality of life prognosis for patients with caudal regression syndrome depends on the severity of spinal and spinal cord defects, the severity of neurological disorders, and urological complications. Children need constant medical rehabilitation.


2014 ◽  
Vol 05 (S 01) ◽  
pp. S013-S016 ◽  
Author(s):  
Nitin Menon ◽  
Anupam Gupta ◽  
Arun B. Taly ◽  
Meeka Khanna ◽  
Sushruth Nagesh Kumar

ABSTRACT Objectives: To observe neurogenic bladder pattern in patients with myelopathy by performing urodynamic study (UDS) and to observe whether it has any correlation with functional and neurological recovery. Patients and Methods: This prospective study was conducted with 90 patients with myelopathy, both traumatic and non-traumatic (males = 65) in a university tertiary research hospital in India between January 2011 and December 2013. Mean age was 33.5 ± 13.2 years (range 15-65 years), mean duration of injury was 82.63 ± 88.3 days (range 14-365 days) and mean length of stay (LOS) in the rehabilitation unit 42.5 ± 23.3 days (range 14-130 days). The urodynamic study was performed in all the patients to assess the neurogenic bladder pattern. Management was based on the UDS findings. Functional recovery was assessed using Barthel index (BI) scores and spinal cord independence measures (SCIM) scores. Neurological recovery was assessed using ASIA impairment scale (AIS). We tried to correlate neurogenic bladder patterns with recovery. Results: Fifty patients (55.6%) had overactive detrusor with 25 each had detrusor sphincter dyssynergia (DSD) and synergic sphincter. Thirty-eight patients had hypoactive/acontractile detrusor and two had normal studies. No significant correlation observed between neurogenic bladder pattern and change in BI scores (P = 0.696), SCIM scores (P = 0.135) or change in ASIA status (P = 0.841) in the study. Conclusions: More than half of the patients with myelopathies had overactive detrusor with or without dyssynergic sphincter according to the urodynamic study. Neurogenic bladder patterns had no significant correlation with functional and neurological recovery in these patients.


2017 ◽  
Vol 15 (2) ◽  
pp. 57-60
Author(s):  
Sadia Afrin Mony ◽  
Tanuka Barua ◽  
Md Badruddoza

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


1970 ◽  
Vol 29 (3) ◽  
pp. 166-169
Author(s):  
S Begum ◽  
R Shelim ◽  
T Begum ◽  
N Nahar

Background and Purpose: Caudal regression syndrome (CRS) is a rare congenital abnormality in which a segment of the spine and spinal cord fails to develop. The severity of the morphologic derangement inversely correlates with residual spinal cord function. The caudal regression syndrome is frequently associated with maternal diabetes. The exact etiology is elusive, though maternal diabetes is one of the important factor; genetic factors, and hypoperfusion might play roles. Recently, the role of teratogens has been studied in animal. Here we report a case of CRS of a newborn baby of diabetic mother. Methods: The history of the patient was taken from parents and physical examination was done. Plain radiographs, USG of abdomen and other investigations were done for evaluation. Results: Agenesis of lower three thoracic, lumbar and sacral vertebrae with multiple congenital anomalies were observed. Lower limbs showed hypoplastic and talipes equinovarus. Hip joints were fixed, flexion contracture of the knees and webbing of Popliteal fossa were present. Other anomalies were dextrocardia and duplex right kidney. Conclusion: CRA is a rare congenital anomaly associated with maternal diabetes. Control of diabetes is necessary to reduce the risk of occurrence. DOI: http://dx.doi.org/10.3329/jbcps.v29i3.9439 JBCPS 2011; 29(3): 166-169


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