Abstract
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.
Highlights
Caudal regression syndrome (CRS) is a rare congenital anomaly characterized by caudal vertebral agenesis or dysgenesis, most often in combination with spinal cord malformations [1], with an estimated incidence of approximately 0.1 to 0.25 per 10,000 births [2]
The severity of the morphologic disorder inversely correlates with residual spinal cord function
CRS may exist with no obvious outward signs [4] and, in that case, the diagnosis is often delayed until failed attempts at toilet training bring the child to the attention of a physician [5]
Summary
Caudal regression syndrome (CRS) is a rare congenital anomaly characterized by caudal vertebral agenesis or dysgenesis, most often in combination with spinal cord malformations [1], with an estimated incidence of approximately 0.1 to 0.25 per 10,000 births [2]. Unless patients have morphologic abnormalities or urinary tract infections (UTIs), at times, parents fail to notice their child’s urologic disorder, and renal impairment can develop. As a result, these children frequently have progressive kidney damage when CRS is identified. A two-year-old girl was referred to the Urology Department for the management of vesicoureteral reflux (VUR) She had initially had a urinary tract infection (UTI) before presentation at the age of two, when right hydronephrosis and VUR on the ipsilateral side (Grade IV) were noted. On examination, she was active and alert, in satisfactory general health, and had passed normal mental milestones. She was able to walk and move her lower limbs, had sensations in the lower limbs and perineum, and
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