Biomedical subjects
Publications and source records attributed to M Borzyskowski.
Although bladder function is thought to be unaffected in Duchenne muscular dystrophy, 46/88 boys interviewed had urinary problems. Nine underwent video urodynamics, showing in eight a small capacity, hyperreflexic bladder, and in the ninth (post spinal surgery) hyperreflexia and detrusor sphincter dyssynergia. Urinary dysfunction is a treatable feature of DMD.
BACKGROUND: Most children with daytime wetting have detrusor instability. A minority have neuropathic vesicourethral dysfunction. The commonest cause is spina bifida, which may be closed. Clinical features suggestive of closed spina bifida include cutaneous, neuro-orthopaedic or lumbosacral spine x ray abnormalities, impaired bladder sensation, and incomplete bladder emptying. MRI is the ideal method for detecting spinal cord abnormality. It has been suggested that MRI spine is an unnecessary investigation in children with daytime wetting in the absence of cutaneous, neuro-orthopaedic, or lumbosacral spine x ray abnormalities. AIM: To clarify indications for magnetic resonance imaging (MRI) of the spine in children with voiding dysfunction. METHODS: Retrospective study of children with voiding dysfunction referred from the Guy's Hospital neurourology clinic for MRI spine between April 1998 and April 2000. Clinical notes and results of investigations, including urodynamic studies and MRI spine were reviewed. RESULTS: There were 48 children (median age 9.1 years). Closed spina bifida was detected in five, of whom four had neuropathic vesicourethral dysfunction confirmed by urodynamic studies. Impaired bladder sensation and incomplete bladder emptying were more frequent in these children than in those with normal MRI spine. One child with spinal cord abnormality had no cutaneous, neuro-orthopaedic, or lumbosacral spine x ray abnormalities. CONCLUSION: Spinal cord imaging should be considered in children with daytime wetting when this is associated with impaired bladder sensation or poor bladder emptying, even in the absence of neuro-orthopaedic, cutaneous, or lumbosacral spine x ray abnormalities.
Bladder involvement is common in transverse myelitis but its characteristics and natural history, particularly in relation to neurological outcome, have not been described in a paediatric population previously. Ten children, with ages ranging from 8 months to 16 years, who had a diagnosis of acute transverse myelitis were studied with video urodynamics and followed up in a tertiary paediatric neurourology clinic. Nine of ten children had obstructive urinary tract symptoms at presentation and all went on to develop 'irritative' urinary tract symptoms (frequency and urgency) about 1 month after initial presentation. Video urodynamics showed a combination of irritative (detrusor hyperreflexia) and obstructive (detrusor-sphincter dyssynergia) abnormalities in most patients and enabled management to be specifically directed towards these. The patients progress was followed up for a median duration of 36 months. All had residual bladder dysfunction, only four were asymptomatic on treatment. The degree of recovery of bladder function was not related to the degree of motor recovery.
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.
Congenital closed spinal anomalies are associated with distortion of the spinal cord, the spinal nerve roots or both, and can result in neurological abnormalities of the lower limbs and neuropathic bladder dysfunction. This study reports clinical and videourodynamic findings in a group of 51 patients with closed spina bifida. The mean age at presentation to a specialist neurological clinic was 3.3 years. Twenty five patients presented with urinary tract disturbance and 12 presented with neurological problems. Thirty three had normal neurological examination or only minor objective signs, 21 had normal renal tract ultrasonography but only two patients had normal videourodynamics, with 31 having two or more abnormalities during this assessment. Neither clinical neurological assessment nor the history of voiding behaviour are reliable indicators of bladder dysfunction and subsequent risk of renal damage. Therefore, all patients with a known or suspected diagnosis of closed spina bifida should have videourodynamic assessment.
The findings in 10 children with neuropathic vesicourethral dysfunction after the onset of a central nervous system tumour are presented. Eight had a spinal tumour and two a brainstem tumour. Bladder dysfunction occurred late in most children except in those with neoplastic infiltration of the conus and cauda equina. Moreover, tumour recurrence was often heralded by loss of bladder control before other neurological signs became obvious. Videourodynamics (VUD) showed various combinations of "filling" and "voiding" dysfunction in tumours extending from the pons to the cauda equina, whereas an isolated "filling" dysfunction was evident in the patient with a suprapontine tumour. Urinary incontinence and recurrent urine infection can be immensely distressing to children and their families, particularly when they have had to cope with the stress of diagnosis and treatment of the underlying tumour. Different management strategies, based on VUD findings, are discussed highlighting the impact these have on the children's quality of life.
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The clinical features and management of 27 children with cerebral palsy referred with symptoms of lower urinary tract dysfunction were reviewed. The mean age at referral was 9.9 years. Daytime urinary incontinence was the commonest presenting symptom. Videourodynamic studies were abnormal in 23 patients (85%). Only two children had evidence of upper renal tract damage. Treatment was determined by urodynamic findings, and led to improvement in symptoms in all patients for whom there was follow up information. Urinary incontinence may be improved or cured in children with cerebral palsy. These children would therefore benefit from early referral for assessment and treatment.
MRI scans of the brain and spinal cord, together with neurological and urological assessments, were carried out on 20 young people (aged between eight and 22 years) who had had surgical treatment of spina bifida in early life and in whom there had been no deterioration of spinal cord function. 19 were imaged successfully. The cord was tethered in all and it was low-lying in 18. Five had cavities within the cord; other abnormalities included cord thinning, lipomas and diastematomyelia. The relationship of these findings to subsequent deterioration and the use of MRI in these patients are discussed. These abnormalities, found in the absence of clinical deterioration, throw fresh light on the natural history of this condition.
Seven boys between the ages of 5 and 10 years with symptoms of urinary frequency and urgency and daytime wetting were studied with urodynamics and were shown to have bladder instability and a dilated posterior urethra. In two the dilatation occurred predominantly during bladder filling. Unstable contractions caused filling of the posterior urethra, and leakage was prevented by voluntary contraction of the distal urethral sphincter; with voiding, the urethra showed a more normal appearance. In the remaining five, there were similar changes during filling, but dilatation persisted during voiding. In six the measured urine flow rate was normal, and none showed any evidence of anatomic obstruction. The mechanism of urethral distention appears to be similar to that previously shown in girls with spinning top urethra: Unstable contractions resisted by voluntary sphincter contraction cause posterior urethral dilatation. Boys with dilated posterior urethras who have urinary frequency and urgency and daytime wetting and normal urine flow rates should be assumed to have bladder instability.
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The key factors in the management of the neuropathic bladder are an understanding of the pathophysiology and natural history of the bladder and urethral dysfunction, an understanding of the urodynamic investigation of such problems, and a realistic approach to treatment. Those children with good motivation, intelligence, mobility and manipulative skills can almost always be made continent by surgical means. Management otherwise is to control or contain incontinence as far as possible and to preserve upper tract function.
Spinning top urethra (STU) is a term used to describe a widened posterior urethra seen mainly in girls. It is commonly regarded as a normal variant. The authors studied 30 girls with STU using videourodynamics. Twenty-eight showed bladder instability; 21, a congenital wide bladder neck anomaly; and 20, both instability and a wide bladder neck. One patient had a sensitive bladder. All patients had a urodynamic abnormality. The authors believe that the STU is nearly always an indication of bladder instability or wide bladder neck anomaly. The most common mechanism for the dilatation of the posterior urethra is that unstable contractions are resisted by a voluntary increase in distal sphincter tension so as to prevent leakage of urine. The resulting pressure rise produces distention of the posterior urethra, which will be maximal in subjects with a weak bladder neck mechanism as in the congenital wide bladder neck anomaly. The authors believe that STU is seldom if ever a normal variant.
In a study of 251 children (108 boys, 143 girls) undergoing videourodynamic studies for the assessment of non-neuropathic bladder dysfunction, 45 (19%) were found to have a wide bladder neck as their primary abnormality. Based on these studies there is evidence that the wide bladder neck anomaly is congenital in origin. In addition to producing significant urinary symptoms in childhood, this anomaly may provide a basis for stress incontinence in later life.
Persistent daytime incontinence is a fairly uncommon but important problem. Videourodynamic studies were carried out in 215 children presenting with this problem in whom there were no neurological signs and who had not responded to simple measures. Over 90% of symptomatic children were shown to have an abnormality, of which over half had detrusor instability and a fifth had the wide bladder neck anomaly. We consider that it is important that these children are fully assessed as many can be helped.