First described in 1985, Fowler's syndrome is the association of painless urinary retention occurring as an isolated disorder in a young woman associated with polycystic ovaries and abnormal urethral sphincter electromyogram (EMG). The full aetiology of this condition remains to be explained, but it has been hypothesised that the disorder is due to a hormonally sensitive channelopathy, which results in a sustained involuntary contraction of the striated urethral sphincter. This in turn has an inhibitory effect on detrusor contractions as well as the desire to void.1
The classical presentation is with a woman in her 20–30s with an intermittent inability to pass urine with a poor stream on voiding. This may happen spontaneously or may be noted following an operative procedure (gynaecological, urological or even ENT) or following childbirth.2
The gold standard investigation is a urethral sphincter EMG. The diagnostic findings compatible with Fowler's syndrome are complex repetitive discharges and decelerating bursts, which when transduced to the audible spectrum sound like the noise of a helicopter and a whale under water, respectively. Such abnormal activity has been suggested to prevent adequate relaxation of the sphincter during voiding, causing outflow obstruction of the bladder, an increased residual volume of urine and eventually failure of the detrusor muscle.3
As there is as yet no cure for this condition, the aim of treatment is to try to ensure bladder emptying. A small number of patients have a poor urinary stream, although some void almost normally. If the residual volume is low, no further intervention is necessary. Patients with larger residual volumes need more definitive treatment, which is carried out by means of either intermittent self-catheterisation or placement of a suprapubic catheter. A number of individuals are unable to self-catheterise as a consequence of extreme urethral sensitivity and spasm. Sacral neurostimulation is reserved for the more severe candidates, as this has shown to be the only effective therapy in women with urinary retention and voiding dysfunction secondary to urethral sphincter over activity.4
Successful placement of the SNS is by a two-stage process. The purpose of the first stage is to identify patients who develop improved voiding with sacral nerve stimulation. These patients go on to receive the SNS (Interstim Therapy), with a control ‘unit’ implanted in the subcutaneous fat of the buttock or anterior abdominal wall with electrodes located close to the sacral roots. Despite the confirmed efficacy, the procedure has significant complications, including lead migration, pain, infection and device failure.4
The inception of pregnancy creates several complications in an already complex clinical scenario. The foremost concern is to establish a method for ensuring that the bladder empties completely. As in Mrs P's case complications are common – specifically recurrent urinary tract infections, suprapubic pain and repeated hospital admissions for control of symptoms.
Sacral neurostimulation presents a significant dilemma in pregnancy, as there is no evidence regarding its safety profile. The advice from clinicians managing patients with SNS devices is to deactivate the stimulator.5
The leaflet provided by the company (Medtronic) openly states that ‘the safety and effectiveness of this therapy has not been established for pregnancy, unborn fetus, or delivery.’6
It is notable that the experience of experts managing similar patients (those who accepted the risks and did not wish their SNS to be turned off) does not show any evidence of adverse effects on the fetus or pregnancy (except for a sporadic finding of an isolated fetal limb defect in one case) (S Elneil, personal communication). Nevertheless, at present there are not enough patient data to reach a definitive conclusion regarding the safety profile of the SNS during pregnancy.
The implications in pregnancy for such an approach are compounded by the increased risk of urinary tract infections associated with invasive drainage of the maternal bladder. Meta-analyses of studies evaluating bacteriuria in pregnancy have concluded that there are confirmed associations with preterm delivery and low birth weight. In addition, there are increased risks of pre-eclampsia, anaemia, chorioamnionitis and postpartum endometritis. Fetal risks include fetal growth restriction, stillbirth, perinatal mortality, mental retardation and developmental delay.7
There is no evidence in literature to determine the ideal mode of delivery specifically for a case of Fowler's syndrome. There is some evidence that women with SNSs should be offered a caesarean section to avoid possible sacral lead damage or displacement during vaginal delivery.5
Most of the available evidence relates to impact of childbirth on the pelvic floor and the effect of caesarean delivery on prevalence of postpartum urinary incontinence.8 9
In general, a first delivery by caesarean section appears to reduce the short-term and long-term risk of urinary incontinence, but other factors (age, obstetric history, obesity, instrumental delivery) are also important.8 9
With the available evidence to guide the ideal mode of delivery and no clear reference to impact of vaginal delivery on the pathophysiology of the disorder, we concluded that an elective caesarean section would be the safest course of action. This decision was made in conjunction with the urologists, keeping in mind the chronic and incurable nature of the underlying disease and to prevent any possible further damage to the bladder and urethral sphincter that may result from a vaginal delivery.
To our knowledge based on literature search, our case is the first of its kind to be published. We hope it provides optimism to those with a similar condition who wish to embark on a pregnancy and to the clinicians who look after them.
- A pregnant patient with Fowler's syndrome requires multi-disciplinary care involving obstetricians and urologists for an optimal outcome.
- Recurrent urinary tract infection is to be anticipated and aggressively managed.
- Delivery by caesarean section is appropriate to prevent damage to the lower urinary tract (and SNS).
- Further research work is required on certain aspects of care (safety of sacral nerve stimulator implant in pregnancy, impact of mode of delivery on disease).