1318.full, pediatric case

7/27/2019 1318.full, pediatric case

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Laksbm ana D as N ar la , M D # {149 }. D ona ld D oher ty, M D # {149 }lizab e th A . H ing sbergen , M D # {149 }nn S .F u icher , M D

Figures 1 , 2 . (1 ) S up ine a bdo mina l rad iograph show s bu lg ing abdom in al flank s. (2 ) V o id ing cy sto -u re th rog ram s show urach a l d iv erticu lum (arrow s in a ), scapho id m ega lou re th ra (a rrow s in b ) , and se-v ere re f lux in to m ark ed ly d ila ted u re te rs (a rrow s in C) .

1318 #{ 149}Specia l E xh ib it V o lum e 18 Number 5

P ed ia tr ic C ase o f th e D ay1

. HISTORYA i-day-o ld m ale in fan t in w hom an an tena ta lu ltrasoun d exam in atio n had show n d ilated u re -

ters and a d isten ded b ladd er u nde rw en t ev alu a-tion . A bdom ina l rad iog raphy and vo id in g cysto -u re th rog raph y w ere pe rfo rm ed .

Index term s: Abdom en, d iseases , 80 .144 4 #{149}hi ldren , gen itourina ry sy stem , 80 .144 4 #{149}run e-be lly sy ndrom e, 80 .144 4RadIoGiphlcs 1 99 8; 1 8: 13 18 -1 32 2

F rom the Departm ent o f R adio lo gy , M edical C ollege of V irg in ia H ospita ls, V irg in ia C omm onw eal th Un ive rs ity , R oom 3-415, 4 01 N 12th S t,R ichm ond, VA 23298 -0615 . F rom th e 1 997 R SNA sc ien tific a ssem bly . R eceived M arch 30 , 199 8; rev isio n req ues ted M ay 5 and received M ay26 ; accep ted M ay 2 7. A dd re ss rep r in t reque sts to L .D .N .#{176}RSNA,1998


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Figure 3 . V oid ing cys to ure th rogram dem onstra tesa w ide ly pa ten t b ladder neck , a d ila ted p oste rio rureth ra (a rrow s), and tap er in g a t the m em branousure th ra .

F igure 4 . V o id in g cy stou re th rog ram dem on stra te sa pro sta tic u tric le (a rrow s).

Sep tem ber-O ctober 1998 D as N arla e t a l #{ 149}Rad ioGraph ic s #{ 149}1319

. F IND INGSSup ine abd om in a l rad iog raphy show ed bu lg ingabdom in al flank s seco nda ry to m arked ly d i-la ted and to rtu ous u rete rs an d absence o f ab -d o rn ina l m uscu la tu re (F ig 1 ). V o id in g cysto -u re th rog raphy d em ons tra ted u rach al d iv e rtic -u lu rn , scap ho id rn eg a lou re th ra , and seve re re -flux in to th e m arked ly d ila ted u rete rs (F ig 2 ) .

D IAGNOS IS : P run e-be lly synd rom e (Eag le -Barret t syn drom e, triad synd rom e).

. DISCUSS IONP rune -be lly sy nd rom e is cla ssica lly d e fm ed asth e triad o f p artia l o r com ple te absence o r hy-pop las ia o f the ab dom ina l m u scu la tu re , b ila t-e ra! cryp to rch id ism , an d a v a rie ty o f u rina rytract ab no rm a litie s . A bdom ina l w a ll tum id ityw as no ted by F ro h lich in 1 839 (1 ) , w ho a lson o ted the assoc ia ted u rin a ry trac t abno rrna li-tie s . O sle r (2 ) is c red ited w ith g iv in g the syn -d rom e the nam e prune -be lly . Eag le an dB arre tt (3 ) w ere the firs t to d escr ibe th e tr iadas a sy ndrom e.

P ru ne -b elly sy ndrom e occurs in on e of eve ry29 ,0 00-40 ,0 00 live b ir th s . Th e c rite r ion ofcryp to rch id ism effective ly e lim ina tes the syn -d rom e in fem a le pa tien ts , bu t th e te rm prune-be l ly is also desc rip tive of the d isease in fe -m ales, w ho constitu te abou t 3% - 5% of re -po rted cases (4 ). U rina ry trac t inv o lvem en t is

less p ronounced in fem ales than in m ales. A nincreased preva lence of the syn drom e hasbeen repo rted in N ige ria a s w e ll a s in Sas-ka tchew an , C an ada (5 ) .The cause an d em bryog en esis o f p run e-be llysy ndrom e rem ain con trovers ia l. T hree possib lecauses have b een propo sed : b ladd er o u tle t ob -stru c tion , m esod erm a l arrest, and dysg en esis o fthe yo lk sac .

In 1 903 , S trum m e p ro posed in u te ro b ladd e rou tle t ob stru c tion as th e cause o f p run e-be llysy ndrom e and pos tu la ted tha t the ab dom ina lw all abno rm alitie s w ere secon da ry to p re ssu ree ffec ts o f the d istend ed b lad de r on the deve l-op in g m yoto rn es o f the abd om in al w a ll (6 ).S ubseq uen t c lin ica l rep o rts no ted an ob stru c t-ing le sio n in on ly iO% -20% of cases com paredw ith u p to 80% o f cases reported in ea rlie r S e-rie s (7 ,8 ). T he cause of th e o bstru ction m ay bea reas o f s ten osis , atre sia , po ste rio r u re th ra lv alv es, o r a p inpo in t d iaphragm a t the ju nc tionof the p oste rio r and m em branous u re th ra.

A secon d theo ry po stu la te s the cau se o fp run e-be lly synd rom e as m eso de rm a l arre st oc -cu rin g b etw een the 6 th an d 10 th w eeks o fges tation . In pa tien ts w ith prune-be lly syn-drom e , an abundance of f ib rou s tissue w ithsp arse ly p laced sm ooth m u sc le th roughou t theu rina ry trac t is m ore in d ica tive o f an inh e ren tp rob lem w ith m esod erm diffe ren tiatio n than ofobs tru ctio n . T h is theo ry also p ro v ides an ex p la -na tion fo r the frequ en t a sso c iatio n of the sy n-d rom e w ith m ega lou re th ra (9 ) .


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1320 U Special Exhibit Vo lum e 18 N um ber 5

T he yo lk sac theo ry pro po ses dy sgenesis o fth e em b ry on ic yo lk sac an d allan to is a s thecause o f p rune -be lly syn drom e and m ay ex-p la in som e of the ch an ges seen in th e b lad de ran d prosta tic u re th ra . H ow eve r , th is th eo ryd oes no t p ro v ide an exp lana tion fo r th e abn or-m a litie s o f the upp er u rina ry trac t o r te ste s(10 ) .

A utopsy s tud ies have show n tha t the m us-d es m o st s ev ere ly a ffec ted are loca ted y en -tra lly and late rally . T he ep ax ial and hyp ax ia ltrun k m u sc les deve lop n orm a lly . A ffec tedm usc le s in dec reasing orde r o f seve rity inc lud eth e transv erse m uscle o f the ab dom en , the rec -tu s ab dom in is m u sc le b elow the um b ilicu s, th ein te rna l and ex terna l o b liqu e m usc le s o f theab dom en , an d the rec tus abd om in is m usc leab ove the um b ilicu s.

T he rena l dysm orph ism in prune -be lly syn-d rom e is du e to a com b ina tion of a u rete r icb ud an d a m e taneph ric de fec t. T he B erd onc lassification of gen itou r in ary invo lv em en t in -c lud es Po tte r sy ndrom e (o lig ohydram nios)(g rou p 1), seve re neon ata l and in fan tile in -v o lv ernen t (g rou p 2), an d m ild inv o lvem en t(g rou p 3 ) (1 1 ) . Th e deg ree o f hy dro neph ros ism ay no t co rre la te w ith the ab dom ina l w a ll de f i-c iency . The rena l pa ren chym a is o ften w e llprese rved .

T he ha llm ark of p rune -be lly sy ndrom e is thee lo nga ted , to r tuo us, d ila ted ap pearance o f th eu re te rs a t rad io g rap hy (i2 ). T he low er o ne -th ird o f the u rete r is m o re p ro foun d ly affec tedth an th e p ro x im a l po rtion . V esicou re te ra l re -f lux is seen in over 7 0% of pa tien ts. H is to log ican aly sis sh ow s a d iffu se in crease in conn ectiv etis sue w ith rep lacem en t o f the sm oo th m us-d es. A m arked dec rease in th e n um ber o fn erves and degenera tion o f no nm yelina tedSchw ann fibe rs h av e b een rep orted (1 3 ). Th ism ay exp la in the p oor u re tera l pe ris ta ls is evena fter co rrectiv e su rge ry .

The b ladder is th ick -w a lled , en la rg ed , andfree o f trabecu la tions in p ru ne -b elly sy ndrom e.T he inc rea sed w a ll th ickn ess is la rg ely d ue toth e p re sence o f fib ro cy tes an d co llagen . T heb ladde r capac ity ran ges from 600 to 8 00 m Lw ith a vo id ing p re ssu re w ith in n orm a l rang efo r age . A pa ten t u rach us m ay be presen t. T heu re teric o rifices a re loca ted la terally , w h ich ex -

p la ins the comm on assoc ia tion w ith ves ico -u re te ra l re f lux .

T he b lad de r neck is w ide ly p a ten t, the po s-te r io r u re th ra is d ila ted and e lo nga ted , andth e re is tape rin g at th e rnem b rano us u reth ra(F ig 3 ). The ve ru rn on tan urn is sm a ll o r absen t.T rue obstruc tive le sio ns a t the jun ctio n of thep ro sta tic and m ernb rano us u re th ra a re seen in2 0% of in fan ts , u sua lly those w ith po or p rog no-s is. L ack of d eve lo pm ent o f the ep ithe lial p o r-tio n o f the p rosta te g land is ch aracte r is tic o fth e synd rom e , an d prosta tic hy pop la sia is on eo f the cau ses o f in fe rtility (1 4 ) .

T he pros tatic u tric le is a sm all, ep ith e lium -lin ed d ive rticu lum o f th e p ro sta tic u re th ra (F ig4 ). It is a n o rm a l ana tom ic v arian t rep resen tingth e rem nan t o f the fu sed cau da l en ds o f them #{252 }lle rian du cts and is h om o logous to the fe -m a le v ag ina an d ce rv ix . Th e re is an inc rea sedprev a len ce o f a la rge u tr ic le in h igh -typ e im p er-fo ra te anus , D ow n synd rom e , hyp osp ad ias ,p oste r io r u re th ra l va lves, and p ru ne -b elly sy n-d ro rne.

A bnorm a litie s o f the an ter io r u re th ra inprun e-be lly synd rom e rang e from u re th ra l a tre -s ia to fu sifo rm rn eg alo u reth ra . B u lb ou s u re th rald ilatio n is ev id en t in n ea rly 70% of p atien ts . Atransien t o bstruc tion in the g land u la r and pe -n ile u re th ra du ring feta l deve lopm en t has beensugg es ted as the cause fo r the c lassic rad io -grap h ic ap pearance o f the u rete rs a s w e ll a s fo rth e know n assoc ia tion of p run e-be lly syn drom ew ith rn ega lou re th ra . B o th scap ho id and fusi-fo rm m ega lou re th ra are a ssoc ia ted w ith th esynd rom e (F ig 5 ) (1 5 ). Fus ifo rm rnega lou re -th ra , accom pan ied b y d efic ien t co rp o ra cave r-nosa , is a m ore severe defect frequ en tly assoc i-a ted w ith rena l dysp la sia and o the r le tha l an orn -a lies. Scaph o id rn eg alo ure th ra is charac te r- izedb y a deficiency o f th e corpus spong iosu rn w itha n orm al g lans and nav icu la r fossa .

B ila te ra l c ry p to rch id ism is an essen tia l co rn -p onen t o f p ru ne -b elly syn drom e . Th e in traab -d o rn ina l p ositio n of the tes tes p red isposesthese pa tien ts to an increased risk fo r m alig -n an t d eg ene ra tion th at is 3 0 -50 tim es g reate rth an th at in p atien ts w ith n orm a l descen dedte stes . T o ou r kn ow ledg e, no pa tien t w ith th issynd rom e h as been reported to fa the r a ch ild .E arly o rch idop exy is adv oca ted to op tim ize p o-ten tia l spe rm a togenesis an d im prov e ev alu a-tio n fo r po ssib le malignancy .


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Sep tem ber-O ctober 1998 D as N arla et a l Rad ioGraph ic s #{ 149}1321

F igure 5 . Illu s tra tion show s fu sifo rm (a rrow s inA) and scapho id (ar row head s in B) megaloure th raassoc ia ted w ith prun e-be lly sy ndrom e.

R esp irato ry m an ifesta tions in prun e-be llysy ndrom e inc lude hypop la sia and cystic ad en o-rn ato id m alfo rm ation . C lin ica lly s ig n ifican t pu l-m on ary p rob lem s are no ted in 55 % o f p at ie nt s.

G as tro in testina l anom alies a re seen in 30%of pa tien ts and in clu de m a lro ta tion , a tre sia ,s ten osis , v o lvu lus , irn perfo ra te anus , sp len icto rs ion , H irschsp rung d isease , and gastrosch i-sis.C ard iovascu la r anom a lies have been re -p o rted in up to 10% of p atien ts and inc ludev en tricu la r sep ta l d efect, pa ten t du ctu s ar teno -sus, and te tra logy of Fa llo t.

In one serie s , 50 % of pa tien ts had one orm o re m uscu lo ske le tal anom alie s inc lud ingsco lio sis, p ectus defo rm ity , a rth rogrypos is,c lub fo o t, v a lgus foo t, hem im elia , d is locatio n ofthe h ip , sac ra l agenesis , and p o lyd ac ty ly (16 ).

F eta l in terven tio n in p ru ne -b elly syn drom e isno t w arran ted excep t in ra re ins tances of dy s-to cia secon da ry to fe tal b lad de r d isten tion . D e-com p ress ion a t the tim e of labor and d e live rym ay b e necessary .

A va riety o f su rg ical in te rven tio ns have beenp erfo rm ed to co rrec t p oo r d ra inage , s ta sis , and

in fec tion in vo lv ing the u rina ry tract in ch ild renw ith p rune -be lly syn drom e . Th ese in terven -tion s inc lu de in terna l u re th ro tom y, cu tan eo usvesicos tom y, red uc tion cys to p las ty , an d to ta lu rin ary recons tru ctio n (red uc tion cy stop lasty ,b ila tera l u re te ra l tap ering , an d re irnp lan ta tionw ith re sec tion of d is tal u re te r) . P a tien ts un -de rg o o rch ido pexy by 2 yea rs o f age .

P ro g re ssiv e rena l in su ff iciency re su ltin gfrom ren al dy sp la sia , ref lux neph ro pa thy , andrecu rren t py elo nephritis m ay necessita te rena ltransp lan ta tio n . B o th cadaveric and liv ing d o-nor k id neys h av e been transp lan ted success -fu lly , w ith age a t transp lan ta tion rang ing from 8m onths to 2 1 years . B ila te ra l n ephrou re te rec -tom y is p erfo rm ed prio r to transp lan ta tion . T heuse of c lean in term itten t ca the teriza tion toem pty the decom pen sa ted b lad de r is no t a con -tra ind ica tion fo r rena l transp lan tatio n . O ngo in gan tib io tic p rop hy lax is sh ou ld be g iv en to a lltran sp lan t rec ip ien ts .

T he trea tm en t o f p rune -be lly syn drom e h asbecom e re fined as a resu lt o f sign if ican t im -p rove rnen ts in an tib io tic the rap y , d iagno stic as -sessm en t o f the urina ry trac t, and u nders tan d-ing o f th e na tu ra l h is to ry o f the d isea se . L essag gres sive trea tm en t o f th e u re ters and b lad de ris advoca ted in the m ajo rity o f p atien ts w ithnorm a l ren al func tion . In fan ts w ith adequ aterena l fun ctio n sh ou ld bene fit from abdorn ino -p la sty and o rch id opexy pe rfo rm ed a t 1 2 -24m onths of age . A ll o f these pa tien ts requ ireca refu l life long uro log ic su rve illance.

A ltho ugh it is gene ra lly repo rted tha t ap -p rox im ate ly 20% o f p a tien ts w ith p run e-be llysyn drom e die w ith in 1 m onth an d ano ther 3 0%d ie w ith in 2 y ea rs , su rv iv in g pa tien ts have va ry -ing d eg rees o f ren al abno rm alitie s tha t a re o f-ten com patib le w ith ex tended life sp an s. P a-tien ts w ith pru ne-be lly syn drom e w ho livem ore th an 70 yea rs have been rep orted .

T he causes o f dea th in p atien ts w ith p rune -be lly syndrom e are chron ic ren al fa ilu re andurosepsis . N ow tha t pa tien ts a re liv in g long er,re sp ira to ry fa ilu re has becom e a con trib u tingcause of dea th .

T he c lin ical co u rse in th is ca se is no tk n own .


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1322 U Spec ia l Exhibit Vo lum e 18 N um ber 5

U R EFE RE NC ES1 . Burke EC , Sh in M H , K ela lis PP . P ru ne -b elly syn -

d rom e : clin ica l fm d ing s and su rv iva l. Am J D isCh il d 1 96 9; 1 17 :66 8- 67 1.

2 . O sle r W . Cong en ita l absence of abdom ina lm uscu la tu re w ith d is ten ded and hyp ertro -p ined u rin ary b ladde r . B u ll John s H opk in sHosp 1901; 12:331-333.

3 . E ag le JF , B arre tt G S . C ongen ita l de ficiency ofabdomina l m uscu latu re w ith assoc ia ted g en ito -ur ina ry abn orm a litie s: sy ndrom e report o f n inecase s. P ed ia tric s 195 0 ; 6 :721 -7 36 .

4. Rabinow itz R , S ch illing er JF . P run e be lly sy n-drom e in the fem ale sub jec t. J U ro l 19 77 ; 1 18 :454-456 .

5 . A deyokunu AA , F am ilu s JB . P ru ne -b elly syn -d rom e in tw o sib lings and a firs t cous in : pos-s ib le gene tic im p lica tion s. Am J D is C h ild198 2; 136 :23 -25 .

6 . G reskov ich F J, N ybe rg LM . T he pru ne -b ellysy ndrom e: a rev iew of its e tio lo gy , de fec ts ,t r ea tmen t an d prognosis . J U ro l 19 88 ; 1 40 :707-712.

7 . Lattim er JK . C ongen ita l de fic ien cy o f abdom i-na l m uscu la tu re and assoc ia ted gen itou r in aryanomal ies . J U ro l 195 8 ; 7 9 :34 3-352 .

8 . T ank ES , M cC oy G . L im ited surg ica l in terven-tio n in the prune-b elly syndrom e. J P ed ia trSu rg 19 83 ; 18 :6 88 -6 91 .

9. K roovand RL , A l-A nsar i RM , Perlm utte r A D .U re th ral and gen ita l m a lfo rm a tion s in p runebe lly syndrom e. J U ro l 1 982 ; 127 :9 4-96 .

10 . S tep hens FD . T riad (p rune be lly synd rom e) inco ng en ital m a lfo rm a tion of th e u rina ry trac t.New Yo rk , NY : Praeger, 1 983 ; 48 5-511 .

1 1 . B erd on W R , B ak er DH , W igge r H J, B lan c W A .T he ra dio lo gic an d pa tho log ic spec trum of th ep rune be lly syn drom e . R ad io l C lin N orth Am1 97 7; 1 5: 83 -9 2.

12 . Sn ow B S, D u ck ett JW . P rune be lly synd rom e.In : G illenw ate r JY , G rayh ack JT , H ow ard 5 5 ,Ducke tt JW . A du lt and p ed ia tric rad io log y1977. Year Book Medical, 1977; 1709-1725.

13 . E hrlich RM , B row n W J. U ltrastru ctu ral an a-tom ic observa tion s o f th e u re te r in the p run e-be lly syn drom e . B irth D ef 19 77 ; 13 :1 01 -10 3 .

14 . H inm an F . A lte rn ativ e s to o rch iopex y . J U ro l1 98 0; 1 23 :5 48 -5 51 .

15 . Sh orom SH , C rom ie W J, D ucke tt JW . M ega-lou re th ra. U ro logy 1981 ; 1 7 :15 2-156 .

1 6 . Lode r R T , G uibo ux JP , B lo om DA , H ensin ge rR N . M uscu loske le ta l aspects o f p ru ne -b ellysynd rom e: d esc rip tion and pa thogenes is. Am JDis Child 1992; 1224-1229.

1318.full, pediatric case

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