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Presentation and outcome of sacral agenesis: 20 years' experience

Published online by Cambridge University Press:  01 December 1999

Jo M Wilmshurst
Affiliation:
Department of Paediatric Neurology, Newcomen Centre, Guy's Hospital, London, UK
Rosemary Kelly
Affiliation:
Department of Paediatric Neurology, Newcomen Centre, Guy's Hospital, London, UK
Malgorzata Borzyskowski
Affiliation:
Department of Paediatric Neurology, Newcomen Centre, Guy's Hospital, London, UK
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Abstract

The underlying risk factors, presenting features, and outcome of 22 children with sacral agenesis and associated neuropathic bladder were studied retrospectively. The age of children at presentation was bimodally distributed, with peaks below 1 year and between 4 and 5 years of age. Ten patients presented after 1 year. The oldest was diagnosed at 12 years of age. In 12 children there was maternal diabetes, orthopaedic anomalies in 14, skin defects in 11, and anorectal/tracheooesophageal anomalies in three. Most children had persistent dribbling of urine on presentation associated with frequency, urgency, recurrent urinary tract infections, failure to respond to medication, and/or constipation. Twenty-one children had abnormal neurology in the lower limbs. Videourodynamics showed neuropathic vesicourethral dysfunction in all children and vesicoureteric reflux in 10. Nineteen had a history of urinary tract infections. Seven had renal scarring, with renal impairment in three at presentation. Clean intermittent catheterization was recommended for 20 of the children. Bladder or bowel surgery has been carried out in seven and neurosurgery performed in two. Twenty of the 22 children underwent operative procedures. Ten operations were performed before sacral agenesis was diagnosed. Over a third of the children have required psychological support. The combination of urinary symptomatology and any of the above risk factors should give rise to a high level of suspicion and low threshold to perform investigations to exclude sacral agenesis. All these children have abnormal bladder and urethral function which not only causes incontinence but puts the kidneys at risk. Early detection allows effective multidisciplinary input specifically aimed at continence, preservation of renal function, and adequate psychological support.

Type
Original Articles
Copyright
© 1999 Mac Keith Press

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