Presenttion nd outcome of scrl genesis: 20 yers experience Jo M Wilmshurst MRCP; Rosemry Kelly RSCN; Mlgorzt Borzyskowski* FRCP FRCPCH, Deprtment of Peditric Neurology, Newcomen Centre, Guy s Hospitl, St Thoms Street, London SE1 9RT, UK. *Correspondence to lst uthor t ddress bove. The underlying risk fctors, presenting fetures, nd outcome of 22 children with scrl genesis nd ssocited neuropthic bldder were studied retrospectively. The ge of children t presenttion ws bimodlly distributed, with peks below 1 yer nd between 4 nd 5 yers of ge. Ten ptients presented fter 1 yer. The oldest ws dignosed t 12 yers of ge. In 12 children there ws mternl dibetes, orthopedic nomlies in 14, skin defects in 11, nd norectl/trcheooesophgel nomlies in three. Most children hd persistent dribbling of urine on presenttion ssocited with frequency, urgency, recurrent urinry trct infections, filure to respond to mediction, nd/or constiption. Twenty-one children hd bnorml neurology in the lower limbs. Videourodynmics showed neuropthic vesicourethrl dysfunction in ll children nd vesicoureteric reflux in 10. Nineteen hd history of urinry trct infections. Seven hd renl scrring, with renl impirment in three t presenttion. Clen intermittent ctheteriztion ws recommended for 20 of the children. Bldder or bowel surgery hs been crried out in seven nd neurosurgery performed in two. Twenty of the 22 children underwent opertive procedures. Ten opertions were performed before scrl genesis ws dignosed. Over third of the children hve required psychologicl support. The combintion of urinry symptomtology nd ny of the bove risk fctors should give rise to high level of suspicion nd low threshold to perform investigtions to exclude scrl genesis. All these children hve bnorml bldder nd urethrl function which not only cuses incontinence but puts the kidneys t risk. Erly detection llows effective multidisciplinry input specificlly imed t continence, preservtion of renl function, nd dequte psychologicl support. Scrl genesis is rre disorder with reported incidence of 0.09 to 0.43% (Guzmn et l. 1983). It hs been clssified into four types: types 1 nd 2 refer to prtil scrl genesis, where prt of the scrum remins; types 3 nd 4 refer to totl bsence of scrum, i.e. complete scrl genesis, type 4 lso involves the bsence of one or more lumbr vertebre (Renshw 1978). Erly detection is importnt s there is significnt ssocition with neuropthic bldder (Gotoh et l. 1991). Delyed dignosis increses the risk of renl impirment, recurrent urinry trct infections, nd incontinence. Evidence exists to suggest this cn be progressive neurologicl disorder due to growth nd trction or pressure on bnormlly positioned scrl roots, or in ssocition with tethered cord (which my be due to thickened filum terminle, lipom, or distemtomyeli) (Gotoh et l. 1991). Key fetures include constiption nd urologicl symptoms of persistent dy- nd night-time wetting, recurrent urinry trct infections, nd difficulty voiding urine. Physicl exmintion my revel flttening of the buttocks, loss of glutel cleft, widely spced buttock dimples, or plpble scrl defect or groove (Fig. 1). Older children my hve widely bsed flt-footed git or pescvus. Neurologicl exmintion cn be completely norml (Koff nd Deridder 1977). Previous history often revels orthopedic bnormlities especilly equinovrus bnormlity (Borrelli et l. 1985). The ssocition with mternl dibetes is well recognized nd 1% of infnts born to dibetic mothers hve scrl genesis, while 12 to 16% of infnts with scrl genesis hve mothers with dibetes (Guzmn et l. 1983). Any defect of the scrum which ffects more thn one vertebr cn cuse neuropthic bldder. However, defect between S2 nd S4 is most likely to led to bldder dysfunction. In ddition, it is not possible to predict the form of bldder nd urethrl bnormlity from the neurologicl dysfunction itself (Koff nd Deridder 1977, Boemers et l. 1996). We hve reviewed children referred to the peditric neurourology service t Guy s Hospitl in London, UK over the lst 20 yers with scrl genesis. Fifteen children were referred with the dignosis, while in seven scrl genesis ws identified t Guy s Hospitl. We ttempted to specificlly exmine risk fctors, presenting fetures, nd resulting outcome vribles. Method A retrospective ssessment ws mde of ll the medicl records of the ptients with dignosis of scrl genesis mnged by the Guy s neurourology deprtment over the pst 20 yers. We documented referrl source, with or without confirmtion of the dignosis of scrl genesis, ges t referrl (Fig. 2), nd resons for referrl (Tble I). A totl of 22 children (11 mle nd 11 femle) with scrl genesis were identified. There were two pek ges of presenttion below 1 yer of ge nd between 4 nd 5 yers (see Fig. 2). Ten children presented lte, i.e. fter 1 yer; the oldest ws dignosed t 12 yers of ge. The frequency of ssocited risk fctors linked to scrl genesis ws reviewed, nmely mternl dibetes, orthopedic bnormlities, lumboscrl skin defects, norectl/trcheooesophgel bnormlities, nd bnorml lowerlimb neurology (Tble II). The orthopedic nd neurologicl 806 Developmentl Medicine & Child Neurology 1999, 41: 806 812
nomlies were ssessed in further detil, noting the required mobility supports. Videourodynmics (VUD), which ssesses bldder nd urethrl function, nd ssessment of renl function were performed in ll children. The VUD studies were crried out using stndrd techniques nd consist of filling nd voiding cystometrogrm combined with micturting cystourethrogrm. The two imges re superimposed on television screen nd recorded on to videotpe so tht events occurring in the bldder nd the urethr could be correlted with pressure chnges nd vice vers. Definitions were from Andersen s guidelines (Andersen 1988). Neuroimging of the spinl cord ws performed if pplicble. Full neurologicl nd urologicl ssessments were completed for ll children. The ssessments nd investigtions, prticulrly urodynmic findings (Tble III), were compred with the results of neuroimging nd outcome in terms of renl function, bldder or bowel surgery, neurosurgery; nd behviourl problems requiring psychologicl support (Tble II) were noted. The degree of continence for both bldder nd bowel nd resons for filure if incontinence remined n issue were scertined. The different types of surgery performed on ll our subjects nd whether surgery ws crried out before or fter confirmtion of the dignosis were noted, i.e. frequency of cosmetic, norectl, urologicl, orthopedic, nd neurosurgicl procedures (Tble IV). Results At the strt of this study the children s ges rnged from 2 to 24 yers (medin 10.5 yers). Most ptients hd persistent dribbling of urine on presenttion ssocited with frequency, urgency, recurrent urinry trct infections, filure to respond to mediction, nd/or constiption (see Tble I). There ws no difference in the presenting fetures of the groups presenting with or without previous dignosis of scrl genesis. Number of subjects Age (y) Figure 2: Age t referrl of ptients to specilist neurourology clinic. Figure 3: MRI of the spine, sgittl view, confirming syrinx T11 L3, with tethered cord terminting in ftty filum. Figure 1: Clinicl ppernce of scrl genesis in stnding position. Note scrl defect. Presenttion nd Outcome of Scrl Agenesis Jo M Wilmshurst et l. 807
In 12 subjects there ws history of mternl dibetes, 14 hd ssocited orthopedic nomlies, 11 hd skin defects, nd three hd norectl/trcheooesophgel defects (Tble II). Of the six subjects referred by peditricins, without dignosis of scrl genesis, hlf hd skin defects, two mternl dibetes, nd one orthopedic bnormlities, wheres in the one subject referred by peditric surgeon, without dignosis of scrl genesis, the only ssocited risk fctor ws n overlying skin bnormlity. Fourteen children hd orthopedic nomlies consisting of tlipes equinovrus (N=11), clwed toes (N=2), vrus knee deformities (N=2), dislocted hip (N=1), nd scoliosis (N=1). Twenty-one of the 22 children hd bnorml neurologicl fetures in the lower limbs, consisting of ltered deep tendon reflexes (N=19), muscle wekness (N=9) nd wsting (N=8), nd ltered senstion (N=3). Twenty of the 22 children hve hd imging of the spinl cord, two children s prents refused the investigtion, nd for the three who were investigted elsewhere we could not trce the imges. Abnormlities were detected in 11 subjects, consisting of cord tethering in six, syrinx in four, distemtomyeli in one, nd lipom within the cord in two (Fig. 3). Assessment of renl function showed tht seven hd renl scrring nd three hd renl impirment ssocited with reduced glomerulr filtrtion rte nd rised cretinine t the time of referrl. Videourodynmics showed bldder nd urethrl dysfunction in ll ptients; vesicoureteric reflux (VUR) in 10, reduced bldder cpcity in 16, incomplete bldder emptying in 15, detrusor sphincter dyssynergi (DSD) in 14, nd hyperreflexi in 19 (see Tble III). No ssocition ws noted between type of scrl genesis, neurologicl deficit, nd VUD fetures. The mngement of the neuropthic bldder ws determined by the videourodynmic findings, pre- nd post-bldder-emptying ultrsounds, nd the result of renl investigtions. Anticholinergic drugs were prescribed in ll subjects t some time. Twenty of the children were felt to require clen intermittent ctheteriztion (CIC) both to protect the kidneys nd improve continence. Of these, 14 were ctively nd successfully using CIC. Six of the children remined vribly wet dy nd night. Of these six, two were still lerning to ctheterize, three children hd refused in ssocition with behviour problems, nd one hd recurrent blnitis. In the remining two children, one ws still in nppies (dipers) nd the other hd vesicostomy to protect his kidneys. Bldder or bowel surgery hd been crried out in seven nd neurosurgery performed in two. Not ll the children with bnorml MRIs were thought to require surgicl intervention on neurosurgicl ssessment. Over third of the children required psychologicl support for combintion of soiling, refusing to ctheterize, nd behviourl outbursts (Tble II). Soiling usully occurred in reltion to underlying neuropthic bowel, however, proportion of children required psychologicl support for excerbted symptoms or cler behviourl element. Twenty of the 22 children hd undergone surgery which rnged from cosmetic to neurosurgicl procedures. Ten of these opertions were performed before the dignosis of scrl genesis ws mde (Tble IV). One child ws wheelchir-dependent nd eight required nkle foot orthoses for mobility. Tble I: Resons for referrl to specilized neurourology clinic Antentl Dribbling Dy/night Poor Frequency of Urgency of UTIs Constiption dignosis or urine wetting strem micturition micturition Ptients (N) 3 15 6 5 3 2 17 16 UTI, urinry trct infection. Tble II: Presenting risk fetures nd summry of subsequent findings Age t presenttion (y) <1 1 <4 4 5 >5 Totl Mternl dibetes 7 1 3 1 12 Orthopedic bnormlities 10 2 0 2 14 Skin defects 5 1 3 2 11 Anorectl bnormlities 1 1 0 1 3 Abnorml neurology 11 3 5 2 21 Type of scrl genesis Complete 8 1 1 0 10 Prtil 4 2 4 2 12 UTIs 11 3 3 2 19 Vesicoureteric reflux 7 3 0 0 10 Renl scrring 4 3 0 0 7 Abnorml renl function 2 1 0 0 3 Bldder/bowel surgery 4 1 1 1 7 Neurosurgery 1 0 1 0 2 Behviourl problems 5 1 2 0 8 808 Developmentl Medicine & Child Neurology 1999, 41: 806 812
The following two cses illustrte the rnge of presenttions in our subjects. SUBJECT 2 This boy ws born t 35 weeks gesttion to dibetic mother whose pregnncy hd been complicted by polyhydrmnios. He spent the first 2 weeks of his life in specil cre bby unit with problems of hypoglycemi. Over the following yers he ws never continent of urine, lwys pssing poor strem nd being described s continuously dribbling. At 4 yers 6 months he presented with urinry incontinence, one previous urinry trct infection, nd constiption ssocited with soiling. In ddition behviour ws becoming problem. Renl ultrsound nd dimercptosuccinic cid scn (DMSA) were reported norml with no evidence of reflux or renl scrring. Micturting cystourethrogrm hd shown thickwlled bldder nd the possibility of posterior urethrl vlves. He ws dmitted to the peditric nephrology wrd for plnned urethrl stretch ged 4 yers 9 months. On rrivl, suspicions rose following the history nd the findings of bnorml nkle reflexes. X-ry of the spine confirmed spin bifid occult L5 nd scrl dysgenesis. VUD demonstrted grossly bnorml bldder with extensive trbecultion nd sccultion suggestive of high intrvesicl pressure. Bldder cpcity ws only 76mL. He hd wide posterior urethr with incomplete intermittent opening of the sphincter. Detrusor hyperreflexi ws noted. No evidence of reflux ws seen. MRI of the spine demonstrted cvity in the thorcic cord extending from T3 to the distl cord which ws truncted nd terminted t T12. Neurosurgicl intervention ws not indicted. His renl function remins stble nd he is currently intermittently ctheterizing, tkes oxybutynin, nd is dry. However, his bowels remined significnt problem, resulting in n ntegrde colonic enem (ACE) procedure being performed with good result. SUBJECT 17 This girl ws referred to the peditric neurourology service t Guy s Hospitl t 7 yers of ge fter being seen by severl doctors nd lredy hving undergone number of procedures. There ws strong fmily history of dibetes with her mother, brother, nd mternl grndmother being ffected. Equinus deformities of her feet were noted from birth. Three opertions were performed on her feet, the lst of which ws yer before referrl. She ws investigted for constiption nd required evcutions of her bowel on two occsions nd rectl biopsy which proved negtive for Tble III: Results of videourodynmics Subject Age t Cpcity Residue DSD Hyper- OBN Reflux VUD (y:mo) (ml) (ml) reflexi 1 1:0 15 0 Y Y N N 2 4:10 76 0 Y Y Y N 3 4:6 100 40 Y Y Y Y 4 4:3 99 20 Y Y Y N 5 4:10 50 25 N N Y N 6 1:4 58 10 Y Y Y N 7 5:0 50 0 N Y Y Y 8 2:10 200 30 Y Y N N 9 11:0 165 120 N Y Y N 10 1:11 60 10 N Y Y Y 11 1:0 50 30 N Y N Y 12 7:0 260 250 N Y Y N 13 4:6 75 40 Y Y Y Y 14 5:0 110 50 Y Y Y N 15 13:0 200 150 Y Y N N 16 1:0 100 10 Y Y N Y 17 7:0 124 40 Y Y N N 18 1:5 107 50 Y Y Y Y 19 3:0 396 170 N N N Y 20 6:0 76 0 N Y Y Y 21 3:10 50 35 Y Y Y N 22 7:0 52 5 Y Y Y Y VUD, videourodynmics; DSD, detrusor sphincter dyssynergi; OBN, open bldder neck; N, no; Y, yes. Norml bldder cpcity for up to 12 yers (ml) = (ge in yers 30) + 50 (Rickwood 1990). Figure 4: X-ry ppernce of complete scrl genesis. Note feces in position of usul rdiogrphic site of scrum. Without lterl film this child could esily be missed. Presenttion nd Outcome of Scrl Agenesis Jo M Wilmshurst et l. 809
Tble IV: Surgicl interventions Subject Cosmetic Anorectl/ Urologicl Orthopedic Neurologicl opertions/other oesophgotrchel 1 Bilterl tendochilles trnsfers 2 ACE procedure Circumcision 3 Cystoplsty 4 Right orchidopexy 5 Mnul evcution nd rectl biopsy. ACE stom 6 Equinus feet deformity repir spinl strightening 7 Lminectomy L4,5, S1 for bifid conus 8 Prophylctic cord untethering 9 Clm cystoplsty Equinus feet correction 10 Mlrottion 11 Refused cystoplsty Bilterl equinus deformity opertion 12 Fllots repir Oesophgel tresi nd TOF repir 13 Lipom spinl opertion superficil 14,b Lprotomy for bdominl pin Urethrl dilttion 15 16 ACE procedure Foot opertion 17 Mnul evcution 2, tlipes equinovrus 3 rectl biopsy 18 Anl tresi opertion Vesicostomy 19 Rectl biopsy 20 21 Loop colostomy followed by Clm cystoplsty Relese of tendochilles ACE procedure 22 Relese of tendochilles Procedure predignosis of scrl genesis; b confirmed UTI, lprotomy norml; ACE stom/procedure, ntegrde colonic enem; TOF, trcheooesophgel fistul. Tble V: Literture review Author Current Borrelli Brren Gotoh Guzmn Koff nd Sito study et l. nd Jones et l. et l. Derridder et l. (1985) (1979) (1991) (1983) (1977) (1991) Number of cses 22 34 4 14 16 13 15 Incidence per yer 1 1 1 1 1 Presenting ges (y) 0 12 0 >21 0 4 0.5 17 <5 21 1 20 1 27 Dignosed under 1 y 12 ~12 1 5 8 1 0 Key presenting complint Incontinence Incontinence UTI Incontinence Incontinence Incontinence Incontinence Constiption 16 (73) 1 4 (28) 2 (15) Neurologicl deficit 21 (95) 13 (93) 13 (81) 4 (30) 11 (73) VUDs performed 22 10 13 9 15 Hyperreflexi 19 (86) 5 (50) 6 (46) 9 (100) 10 (66) DSD 14 (64) 3 (30) 5 (38) 9 (100) 13 (87) VUR 19 (45) 5 (50) 8 (56) 5 (33) Scrring 7 (32) 4 (28) Renl impirment 3 (14) 1 1 (7) 1 (7) 1 (6) Bldder/bowel surgery 7 (32) 9 (24) 2 5 (36) 3 (18) 5 (38) 2 (13) Neurosurgery 2 (9) 0 0 8 (56) 0 0 5 (33) Achieved continence 14 (64) 27 (80) 7 (50) 12 (75) 5 (38) 11 (73), dt not recorded; percentges re in prentheses; UTI, urinry trct infection; VDU, videourodynmics; DSD, detrusor sphincter dyssynergi; VUR, vesicoureteric reflux. 810 Developmentl Medicine & Child Neurology 1999, 41: 806 812
Hirschsprung disese. She ws described s continuously dribbling, being wet both dy nd night, nd pssing poor urinry strem. There were no proven urinry trct infections. She qulified for dditionl support in school becuse of her incontinence nd impired git. An X-ry of her spine detected possible spin bifid but no mention ws mde of the scrl views. She ws referred becuse of persistent incontinence nd constiption by her generl peditricin. Cliniclly, she ppered constipted with full bldder. Her spine ws short to plption with ftty swelling over the bse. She hd bnorml lower-limb neurology, with wsting of her left clf, brisk knee reflexes, nd reduced left nkle jerk. Senstion ppered intct, lthough nl reflex ws bsent. MRI of her spine confirmed scrl genesis with n expnded cvity in the distl thorcic cord from T9 to T11. The cord terminted t L1 with ftty strek to L4. There ws no evidence of distemtomyeli. Renl function ws norml with no evidence of reflux or scrring, VUD demonstrted detrusor sphincter dyssynergi with incomplete emptying. At the current time, it is felt tht neurosurgery is not required, but she is being monitored nd is lerning how to self-ctheterize. Discussion Few published studies cover the neurourologicl spects of scrl genesis (Tble V). Most hve been in urologicl journls with little documenttion in the peditric literture. Mny reports in the orthopedic literture discuss the bony bnormlities of the condition but not the neurourologicl spects. Comprison with our study confirmed the low incidence of scrl genesis with round one cse per yer presenting to urology centre (Koff nd Deridder 1977, Borrelli et l. 1985, Gotoh et l. 1991, Sito et l. 1991). In these studies, ge t presenttion ws wide, s in our study. In only one study ws the dignosis mde in hlf the cses in the newborn period (Guzmn et l. 1983). Presenting fetures in most studies quoted incontinence s the most common complint (Koff nd Deridder 1977, Borrelli et l. 1985, Gotoh et l. 1991, Sito et l. 1991). However, constiption ws surprisingly rrely noted. VUDs hve been performed in the more recent studies, confirming neuropthic bldder in most ptients. Findings of hyperreflexi nd DSD vried but overll echoed our results. Better correltion occurred for VUR nd renl scrring. Four ptients hd reduction of renl function (Koff nd Deridder 1977, Gotoh et l. 1991, Sito et l. 1991) with deteriortion in one severe enough to require dilysis (Brren nd Jones 1979). The number of children in our study requiring bldder or bowel surgery ws similr to recent studies (Koff nd Deridder 1977, Guzmn et l. 1983, Borrelli et l. 1985). Neurosurgicl intervention ws rre in most studies except for one where eight of 14 ptients underwent procedure either for prophylctic resons or fter deteriortion in neurologicl signs, little chnge occurred in urologicl function fter intervention (Gotoh et l. 1991). The number of children who becme continent s result of intervention rnged from under hlf (Koff nd Deridder 1977) to nerly ll (Borrelli et l. 1985). The reminder ttined figures closer to our study (Guzmn et l. 1983, Gotoh et l. 1991, Sito et l. 1991). Dt from VUD ided pproprite use of nticholinergic drugs, progressing to CIC where necessry. In ddition, bldder surgery ws performed to protect compromised renl function nd promote continence (Guzmn et l. 1983, Borrelli et l. 1985, Borzyskowski nd Mundy 1988, Gotoh et l. 1991, Sito et l. 1991). Mny of our subjects presented with long-stnding symptoms nd clinicl signs highly suggestive of neuropthic bldder ssocited with scrl genesis. Lte dignosis my result in dely in control of symptoms nd renl impirment. To mke the dignosis lterl s well s ntero-posterior X-ry of the lumboscrl spine is essentil, proceeding to MRI of the spine if there is high level of suspicion. It is importnt to exclude neurosurgicl trget such s tethering nd thus ll subjects should hve imging of the spine nd neurosurgicl opinion sought if pproprite. However, neurosurgicl intervention rrely improves bldder function, lthough it is thought tht it my prevent further progression or evolution of lower-limb neurology (Sito et l. 1991). Figure 4 demonstrtes how esy it would be to miss cse, prticulr close exmintion is necessry in order not to miss the defect on X- ry. Lte dignosis is persistent problem highlighted by this study. Children hd in some cses lredy hd cosmetic surgery for overlying skin defects without the possibility of scrl genesis or closed spin bifid being considered. Others hve hd extensive orthopedic procedures but no investigtions for incontinence (Tble IV). An verge of 5 yers hs been quoted between onset of urologicl symptoms nd dignosis of neuropthic bldder (Brren nd Jones 1979, Borrelli et l. 1985). Renl dmge my be irreversible by the time of presenttion. We noted two pek ges t presenttion with hlf our subjects being dignosed before they were 1 yer of ge. The other pek occurred between 4 nd 5 yers of ge, which ws relted to strting school nd continence becoming n issue. Peditricins need to be wre of the dignosis of scrl genesis nd its ssocition with risk fctors. This requires high level of suspicion in ny incontinent child prticulrly if ny of the risk fctors re present. Associted fetures include mternl dibetes, n infnt with known orthopedic problems (especilly dislocted hips nd equinovrus deformities), skin defects, nd norectl nomlies (Guzmn et l. 1983). Severe constiption is lso significnt erly finding. These were similrly echoed in our study. Urologicl fetures re persistent dy nd night wetting, frequency, poor urinry strem, nd recurrent urinry trct infections. Although bnorml neurology is sid to be rre (Koff nd Deridder 1977), most of our ptients hd some bnormlities of the lower limbs, lbeit minor. The neurologicl fetures were subtle in most but demonstrble with thorough exmintion. We did not detect ny difference in incidence of presenting ge in the different types of scrl genesis. No correltion ws found between symptoms, neurologicl deficit, nd bldder dysfunction. This is in keeping with the findings in children with closed spin bifid who lso hve only minor neurologicl deficits but very bnorml, dngerous bldders with high risk of renl dmge (Johnson nd Borzyskowski 1998). Thus ll children require videourodynmics to identify risk fctors to the kidney (DSD, VUR, reduced complince, poor emptying nd high pressure) nd ssessment of renl function. All of our ptients hd bnormlities on their VUD studies indictive of significnt bldder nd urethrl dysfunction with most hving smll, hyper-reflexic bldders with DSD nd high incidence of reflux. Renl impirment, ssocited with reduced glomerulr filtrtion rte nd Presenttion nd Outcome of Scrl Agenesis Jo M Wilmshurst et l. 811
rised cretinine t the time of referrl, occurred in three (ll detected below 4 yers). However, seven children (32%) hd evidence of renl scrring on DMSA exmintion. Mngement is imed t protecting the kidneys nd improving continence, this usully requires nticholinergic drugs nd CIC. If the bove mesures fil then urologicl surgery my be required (Borzyskowski nd Mundy 1988). Mny of the children were constipted from n erly ge. Most improved with stndrd medicl therpy but few required surgicl intervention (three hd ACE procedures nd two hd surgery for norectl mlformtions). Three children underwent rectl biopsies for Hirschsprung disese (ll negtive) before the dignosis of scrl genesis. Erlier confirmtion in these children would hve spred them unnecessry surgicl intervention. There ws high incidence of psychologicl or behviourl problems. Children suffered from number of complints including temper tntrums, school refusl, soiling, nd refusing to ctheterize. The persisting bldder nd bowel problems understndbly led to gret strin within the fmily, often resulting in not just individul but fmily therpy. Further, the need to tech prents how to ctheterize their child until they re old enough to self-ctheterize or the child to self-ctheterize my cuse strin nd conflict. Input from specilist liison nurse is essentil to void these problems nd to id in the detection of the need for forml psychologicl support. Gotoh T, Shinno Y, Kobyshi S, Wtri Y, Koynyi T. (1991) Dignosis nd mngement of scrl genesis. Europen Urology 20: 287 92. Guzmn L, Buer SB, Hllett M, Khoshbin S, Colodny AH, Retik AB. (1983) Evlution nd mngement of children with scrl genesis. Urology XXII : 506 10. Johnson L, Borzyskowski M. (1998) Bldder dysfunction nd neurologicl disbility t presenttion in closed spin bifid. Archives of Disese in Childhood 79: 33 8. Koff SA, Deridder PA. (1977) Ptterns of neurogenic bldder dysfunction in scrl genesis. Journl of Urology 118: 87 9. Renshw TS. (1978) Scrl genesis. Journl of Bone nd Joint Surgery A60: 373 83. Rickwood AMK. (1990) Investigtions. In: Borzyskowski M, Mundy AR, editors. Neuropthic Bldder in Childhood. Clinics in Developmentl Medicine No. 111. London: Mc Keith Press. p 12 3. Sito M, Kondo A, Kto K. (1991) Dignosis nd tretment of neurogenic bldder due to prtil scrl genesis. British Journl of Urology 67: 472 6. Conclusion It is importnt for peditricins to hve high level of suspicion of scrl genesis in ny child presenting with persistent wetting nd constiption, prticulrly if there is history of mternl dibetes, spinl or skin defects, or lower-limb bnormlities. There should be low threshold to perform spinl X-rys nd MRI, to confirm the dignosis nd exclude neurosurgicl trget. All should hve VUD t the time of dignosis s the vesicourethrl dysfunction cnnot be predicted from the neurologicl bnormlities nd it is importnt to identify those children whose kidneys re t risk. It my be prticulrly difficult to mnge the vesicourethrl dysfunction in this group of children. Erly dignosis enbles erly intervention to void renl dmge, improve continence (bldder nd bowel), nd thus improve the qulity of life for the child nd fmily. It should be emphsized tht this requires multidisciplinry pproch nd life-long follow-up. Accepted for publiction 31st My 1999. References Andersen JT. (1988) Urodynmics terminology nd norml vlues in children, femles nd mles. Scndinvin Journl of Urology nd Nephrology 114: (Suppl.) 5 19. Boemers TML, Beek FJA, vn Gool JD, de Jong TPVM, Bx KMA. (1996) Urologicl problems in norectl mlformtions. Prt 1: urodynmic findings nd significnce of scrl nomlies. Journl of Peditric Surgery 31: 407 10. Borrelli M, Bruschini H, Nhs WC, Figueiredo JA, Prdo MJ, Spinol R, Wlligor M, Freire GC, Menezes de Goes G. (1985) Scrl genesis: why is it so frequently misdignosed? Urology XXVI: 351 5. Borzyskowski M, Mundy AR. (1988) The mngement of the neuropthic bldder in childhood. Peditric Nephrology 2: 56 66. Brren V, Jones WB. (1979) Scrl genesis: dignosis, tretment nd follow-up of urologicl complictions. Journl of Urology 121: 543 4. 812 Developmentl Medicine & Child Neurology 1999, 41: 806 812