Late Diagnosis of Rare Spinal Defect in a Girl with Urinary Incontinence

Urinary incontinence is a common problem in paediatric population and can be caused by many disturbances. To diagnose isolated nocturnal enuresis it is important to exclude physical anomalies that can lead to urinary incontinence. Sacral agenesis is a rare defect of vertebral column which can occur as an isolated defect or coexist with other anomalies. Mild clinical symptoms of the defect may delay the diagnosis and can keep patients at risk of severe complications including chronic kidney disease. Patients with caudal agenesis are characterised by higher prevalence of kidney defects and vesico-ureteric reflux and they are considered to be a group at higher risk of kidney damage. In this paper we present the case study of a 5-year-old girl with intermittent urinary incontinence admitted to the hospital for investigation of observed symptoms and further treatment. In the course of investigation, on the basis of magnetic resonance imaging and voiding cystography, the diagnosis of sacral agenesis was estabilished. Urodynamic examination revealed overactive neurogenic bladder with reduced cystometric capacity but no obstruction. Treatment of constipation and anticholinergic agents enhancing bladder function, and physical rehabilitation were recommended as well as psychological care for the child and her parents. No neurosurgery was possible at this stage of sacral agenesis. Mild clinical symptoms in rare cases of caudal agenesis may delay the diagnosis that keep patients at risk of severe complication of chronic kidney disease.