Hydrocephalus in Achondroplasia

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Thefollox'ing article ln'aswrittenfor the Little Peopleof British Columbia Associatiortb)' Dr. Paul Steinbok HB ,FRCS(C), an associateof Dr. Judith G.Hall's ar Children's Hospital in Vancouver,B.C. Dr. Steinbok has trealed many membersof LPBC for hydrocephaluasnd hascortductedstudiesaccordingly.He comeshighll' recontmended bv Dr. Hall.

Sincerel.t,[,v[urielReid, President,LPBC.

Hydrocephalusin Achondroplasia

C h i ldr enr v it hac ho n d ro p l a s i a rek n o rv nto h a v eenl arged h e a d su' hic h in m os t i n s ta n c e si s re l a te dto th e t' a ctthat the fl u i d cav it iesin t hebra i n(r e n tri c l e s) a ree n l a rg e dO. ne of the ma j o r c aus esof v ent r i c u l a re n l a rg e me nits h 1 ' d ro c ephal usa. si tu a tionin r v hic ht he p re s s u rerri th i n th e v s ' n tri c l c-i s hi gher th a n n or m al. H1. ' dr o c e p h a l uosfts -nma n i fe s tsi ts e l f e:rrl 1i n l i fe * 'it h inc r eas inghe a ds i z e .a n d l a te ri n l i t' e* i th probl cms su cha s headac hesr.o m i ti n g . a n d o b v i o u se r i d e n c c' ofbrai n d i sfu n c t ion.I n c hildr e nrri th a c h o n d ro p l a s i ath e reh as been mu ch c ont r ov er s vab o u t th e s i g n i fi c a n c eo f th e v entri cul ar

e n l a rgem enbtec aus em o s tc h i l d re nd o n o t e x h i b i th eadaches. vo mi ting.let har gl. an do th e rs )' mp to msu h i c ho n e a ssoci ates u i th h1' dr oc ephalu sF.u rth e rm o re .i t h a s b e e n fe h thar i n ch i l d r ens , it h ac hon d ro p l a s i at.h e v e n tri c u l a re n l a rgement sta b i l iz esr v it ht im e an dd o e sn o t l e a dto s i g n i ti c a npt robl ems.

We hav ebeenc on c e rn e da b o u tth i s a p p ro a c hto chi l dren *'i th ac hondr oplas ibae c a u s ei t i sk n o w nfro m o th e rsi tuati ons i n rvh i c ht y dr oc epha l u se x i s ts .th a t i t i s p o s s i b l eto h avemore ch ro n ichy ' dr oc epha l ursv h i c hc a nre s u l ti n a b n o rm a lfuncti on o f th e br ain. ev iden c e do n l l ' b y a d e c re a s ei n th e l evel of i n te l l igenc eand f unc ti o n i n ga t s c h o o l .o rb ymi l d i n te rmi trent h e a d a c hes .I t r v as o u r fe e l i n g a t rh e B ri ri s h C ol umbi a C h i l d r en' sHos pit alt h a t i f h y ' d ro c e p h a l uasc u ta l l ydi d e.ri st i n a ch ondr oplas iaa. n d i f rh e p re s s u rerv i th i nth e r, entri cl es u a s h igJ r etrhan it s h o u l db e . th e n th e remi g h rb e p ersi stent ch ro n icdam ageoc c u ri n gro th e b ra i n .a n dth a tth i srvoul dnot b e a n ideals it uat ionf o r a n 1 ,o n eB. e c a u s eo f th i s c o n cern.w e stu d i ed a num ber o f a c h o n d ro p l a s ti cc h i l d re n rvi th bi g ve n tric lc s .F ir s t ly ' . w e m e a s u re dth e p re s s u rew ithi n the ve n tric lesby put t inga s ma l ltu b e i n to th e b ra i na n d hooki ng th a t u p t o a m onit or in gd e v i c e .We rv e rea b l eto s h o rvi n fi ve ch i l d ren in whom t h i s rv a s d o n e . th a t th e p re s surew as e l e va tedW. hile t het u b ew a ss ti l l i n p l a c e .w e to o k theopportu n i ty t o injec ta d1' e -l i k em a te ri a l(c o n rra s r)a. n d a l sosome ra d i o a c t iv em at er ialin toth e v e n tri c l e sto s c ei f th e rew asany b l o ckaget o t he f lou o f s p i n a lfl u i d rv i th i nth eb ra i nth atmi ght a cco untf or t he big v e n tri c l e sa n d h y d ro c e p h a l u sW. i th thi s te st.we r v er eable t o s h o rvth a t th e rew a s n o b l o c k a geT. hi s i n d i cat edt o ust hart.hep ro b l c mc a u s i n gth eh 1d ro c cphal usi n a ch o n dr oplas t icchild rc nm i g h tb c re l a te dto a d c c rc asci n rhe a b so rpt ionols pinal f l u i d . S p i n a lfl u i d i s n o rm a l l yabsorbcd o ve rthet op olt he br a i ni n toth e b i gv e i n sth a td ra i nt hc brai n. It rva spos t ulat edr hatp c rh a p sth c p re s s u rei n th c s cbi g vci ns wa s too high. and t ha t th i s rv a si n h i b i ti n gth e a b s o rpti onol ' sp i n a lf luid. I t was t h o u g h tth a t th i s h i g h p re s s u recr> ul dbe p ro d u c eCbi, a bloc ka g cro th c l l o w o f v c n o u :jb l < lodat thc b a seof t hc s k ull,u hic h i s k n o u ,nto b e v c ry s ma l l i n chi l drcn

w i th achondropl asi a.B y putti ng smal l ca t het er sint o t he venoussystemvi a the groi n. and i nj ecti ngdye int o jugular venisrvhichdrain the brain. we have shown that there is narrorvi ngof the vei nsat the baseof the skullwher et he skull meetsthe neck.We havealsobeenableto shorvthat this does not causean i ncreasei n the pressurei n theveinsdr ainingt he brai n.In tw o chi l dren.i t appearedal sothat t her em ight be a constrictionor narrorvingof the jugular vein as it u'ent lrom the neck i nto the chest.w hi ch i s al so smal l in childr enwit h achondroplasia.

B asedon the above studi es.u,e have concludedt hat in childrenwith achondroplasiah.ydrocephalusis quitecommon. and is likely relatedto obstructionto the florvolvenous blood from the brai n.W e bel i evethat thi s i s a si gn if icantpr oblcm . and have attemptedto treat thi s b1,shunti ngt luid f r om t hc. ventri cl esto theperi toneacl avi tf i n theabdom cn.I n t hisr vav * e hal ' eattemptedto reduccthe pressurerr it hin t hc br aint t 'r normal . and thus preventtLnher damageti om occur r ingt t 'r the brain. Our initial resultshave beenencouraginu.

We believe that it is important that all children rvith achondropl asi abe l bl l o* ' ed by mcasurem ent sot 't he head ci rcumferenceT. hosechi l drenu' hoseheadsar epar t icular lv Iargeare more l i kel y'to have h1' drocephalusa.nd ar e m or e likell' to benefitlrom any type ol shunt proccdurc.N'lore importantll' perhaps.is the approachto nnvborns uith achondropl asi ab. ecausethese chi l dren mav be bor n *'it h normalventri cl esand may devel oph1' drocephaluosnll' lat c'r on in the first year61 t\\'oo[ life. It is easl'to follorvthcsc nervbornsrvi threpeatedul trasoundsof thebr aint o lor r kat t hc si zeol the ventri cl esa. nd i fthe ventri cl esstan t o incr easein si ze.i t mav be usel ulto consi dcrtreatmcntea r lierr at hcrt han later.

P aul St eit r boA'i,ll.D. 4180 Oak Street, l'ancou't'er,BC, V6II 3l/1

(604) 875-2094

NO it isn't Christmas in June but it is thcJirst tirttcspacc was availablefitr this picture of the Flinida \lini Gotors Pnrrv

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