8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 1/6

73 Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:(

OnaSa}lsw 

Hewslgqowhle

Fnbhienew }ash}jasnb easpa janwj wqfls *F]E_W( no&

olqew ̀ ls 1‟>=! l` nbb fnbhienew l`w whqa wqfls% L` 

nbb ona l` wjh wqfls" ?=‟1=! nsa noolf}nehag cx eaq&

sl`hcslfnwlh H *E@&>( *ple Saodbheijnqae‘ ghana(%

N Ona l` Hewsnwjlsnoho Ihnew Fnbhienew ]ash}jasnbEaspa _janwj Wqfls he Eaqsl`hcslfnwlh Wx}a H

*ple Saodbheijnqae‘ Ghana(

@slf > Ga}nswfaew l ̀_qsiasx" DDS Jldqshdq Jl}hwnb4 3 Ga}nswfaew l` 

 Hewasenb Faghohea" Dnen{nyn Sagosl Jl}hwnb4 neg ? Ga}nswfaew 

l` Obhehonb ]nwjlblix" Dnen{nyn Faghonb Qehpashwx" Dnen{nyn"

 Kn}ne

Saoahpag Kneqnsx >1" 3==94 nooa}wag `ls }qcbhonwhle Fnsoj 3="

3==9

Nggsa sa}shew sa~qaw wl Kqe{l _jhfh{q" FG; Ga}nswfaew l` 

_qsiasx" DDS Jldqshdq Jl}hwnb" 3‟>?‟7? H{qfhinldn" Dnen{nyn"

Hjhdnyn 83>‟:=?1" Kn}ne%

Le wja lwjas jneg" wja heohgaeoa l` olf}bhonwhle cx

F]E_W h sabnwhpabx bly *3‟>?!( nflei }nwhaew yhwj

E@&>" neg F]E_W l`wae n``aow wja azwsafhwha he wjaa

ona neg hw snsabx gapabl} he wja wjlsnoho onphwx%>( Ya

saoaewbx aeolqewasag n ona l` ihnew F]E_W l` wja shijw

wjlsnoho onphwx yjhoj olf}bhonwag E@&>" yjl yn wsanwag

qsihonbbx% Wjh }n}as yhbb }saaew wjh ona" yhwj sa`as&

aeoa wl wja bhwasnwqsa%

Ona Sa}lsw

Wja }nwhaew yn n ?3&xans&lbg ylfne yhwj E@&>% He Ga&

oafcas 3==1" ja caine wl olf}bnhe l` jlswea l` csanwj

neg cnod }nhe% N gawnhbag aznfhenwhle nw n eanscx obheho

nbblyag n ghnielh l` fnhpa jxgslwjlsnz le wja shijw

Wja }nwhaew yn n ?3&xans&lbg ylfne yhwj eaqsl`hcslfnwlh H *ple Saodbheijnqae‘ ghana("

yhwj ojha` olf}bnhew l` jlswea l` csanwj neg cnod }nhe% OW neg FSH sapanbag n ihnew fn

looq}xhei wja shijw wjlsnoho onphwx nbflw olf}bawabx% Wja fn olf}saag wja faghnwhenb

wsqowqsa wl wja ba`w neg wja bhpas glyeynsg% _ja qegasyaew qsiasx wl nbbaphnwa sa}hsnwlsx

neg ohsoqbnwlsx ghlsgas onqag cx olf}sahle l` wja shijw bqei neg he`ashls paen onpn gqa wl

wja ihnew wqfls% Hewsnl}asnwhpabx" wja wqfls yn ̀ lqeg wl jnpa lshihenwag ̀ slf wja 1wj hewasol&

wnb easpa% Wja saaowag wqfls yn 3=Ù>9Ù>1 of he h{a neg 3"?== i he yahijw% Hw yn jhwlblih&

onbbx ghnielag n n fnbhienew }ash}jasnb easpa janwj wqfls% Jas }lwl}asnwhpa olqsa yn

qeapaew`qb% Nbb heghonwls l` sa}hsnwlsx `qeowhle hf}slpag" neg agafn l` wja blyas jnb` l` wja

clgx ghn}}ansag" noolf}nehag cx ghn}}ansneoa l` jlswea l` csanwj% _ja yn ghojnsiag

3> gnx n`was qsiasx% _apae flewj n`was qsiasx" jlyapas" n saoqssaew wqfls yn `lqeg he wja

shijw wjlsnoho onphwx% _ja ghag l` sn}hg islywj l` saoqssaew wqfls ? flewj wjasan`was% Wjh

wqfls l`wae olf}bhonwa eaqsl`hcslfnwlh H neg jn n jhij `sa~qaeox l` blonb saoqssaeoa neg

ghwnew fawnwnh" saqbwhei he }lls }slielh% Eahwjas ne l}whfnb azwaew l` saaowhle eaagag `ls

olf}bawa saaowhle l` wjh wqfls els ne l}whfnb saihfae l` ojaflwjasn}x" snghlwjasn}x" ls

lwjas wjasn}x `ls wja wqfls jn xaw caae awncbhjag% Hw h gahsncba wl awncbhj wjaf he wja eans

`qwqsa% *Nee Wjlsno Onsghlpno _qsi 3==:4 >7; 73‟79(

Dax ylsg; fnbhienew }ash}jasnb easpa janwj wqfls" eaqsl`hcslfnwlh H" hewsnwjlsnoho ihnew wqfls

Kqe{l _jhfh{q" FG"> Xljhjhdl Nsnel" FG"> Wlflfh Fqsnwn" FG">

Elshjhdl Hjhdnyn" FG"> Wqxljh Xnojh" FG"> Wlfl Elfqsn" FG"3 neg

Jhsljh Fhenwl" FG?

8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 2/6

 Hewsnwjlsnoho Fnbhienew ]ash}jasnb Easpa _janwj Wqfls 

Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:( 7?

hga% _ja qegasyaew wjlsnoho gsnhenia cqw nga~qnwa abhfh&

enwhle l` wja wjlsnoho `bqhg yn elw nojhapag% @ls wjh

sanle" ja yn sa`assag neg ngfhwwag wl lqs ga}nswfaew

wl saoahpa n gawnhbag aznfhenwhle neg wsanwfaew%

Wja bnsiaw qcoqwnealq fn *? of he ghnfawas( yn

`lqeg he wja ba`w nzhbbnsx nsan" noolf}nehag cx fnex l`w

qcoqwnealq fna *cably > of he ghnfawas( he wja az&

wsafhwha neg olqewba on`è nq bnhw }lw le xwafho dhe%

Fnsdag agafn yn elwag he wja blyas jnb` l` jas clgx%

He nqoqbwnwhle" wja shijw sa}hsnwlsx lqeg yn yand neg

hewaea jlswea l` csanwj yn elwag" nbblyhei n snwhei

l` gaisaa P noolsghei wl wja Jqij&Klea obnh`honwhle%

Le ngfhhle" O sanowhpa }slwahe *OS]( yn n jhij

n >1%70 fi,gB" neg abapnwhle l` baqdloxwa olqew *>>"?==, 

±B( yn nbl elwag% L` wja wqfls fnsdas wawag" lebx

eaqsle&}aoh`ho aelbna *E_A( yn abapnwag *07 ei,fB(%

Nswashnb cbllg in nenbxh `lbblyhei lzxiae hejnbnwhle

nw n snwa l` ? B,fhe xhabgag wja `lbblyhei saqbw; }J 9%70>"

nswashnb }saqsa l` onscle ghlzhga *]OL3( ?9%0 ffJi"

nswashnb }saqsa l` lzxiae *]L3( 99%0 ffJi" L3 nwqsn&

whle 81%:! neg cna azoa *CA( ?%> fflb,B *Wncba% >(%

Ojaw Z&snx *@hi% >( sapanbag el nhs he wja shijw wjlsnoho

onphwx neg wja faghnwhenb gaphnwhle wl wja ba`w" yjhba ph&

qnbh{hei wja wjlsnoho gsnhe heaswag nw n eanscx obheho%

Ojaw olf}qwag wlflisn}jx *OW( one ghoblag n ih&

new fn looq}xhei wja shijw wjlsnoho onphwx nbflw olf&

}bawabx% Wja nsan hehga wja fn jlyag ne

qejlfliaealq olewsnw aejneoafaew le olewsnw&ae&

jneoag OW *@hi% 3(% Wja fn hewaeabx olf}saag wja

faghnwhenb wsqowqsa *heplbphei wja jansw" bnsia paab"

wsnojan" al}jniq" awo%( wl wja ba`w" neg wja shijw bqei

yn ̀ saa l` nhs% Ojaw fnieawho saleneoa hfnihei *FSH(

sapanbag n bnsia fn *>8Ù>9Ù>7 of( he wja shijw wjl&

snoho onphwx% N jlfliaealqbx jhij gaehwx yn aae

yhwjhe wja fn nbsangx he wja ansbx }jna l` wja gxenfho

wqgx% Wja fn hewaeabx olf}saag wja faghnwhenb

wsqowqsa wl wja ba`w neg wja bhpas glyeynsg" cqw wja fn

yn yabb&gafnsonwag" qiiawhei wja ncaeoa l` wqfls

hepnhle l` wja faghnwheqf ls bhpas *@hi% ?(% Wja ̀ aaghei

nswasx `ls wjh wqfls aafag wl ca ne hewasolwnb nswasx"

hewasenb wjlsnoho nswasx" he`ashls }jsaeho nswasx ls lfa&

wjhei l` wja lsw% Jlyapas" caonqa wja OW neg FSH ̀ heg&

hei qiiawag wjnw wja wqfls he wjh ona yn elw pasx

hepnhpa" ya oleobqgag wjnw hw ylqbg ca sabnwhpabx anx wl

ganb yhwj wja `aaghei nswasx% Wjh h yjx ya ghg elw fnda

`qswjas a``lsw wl hgaewh`x wja `aaghei nswasx }sal}asnwhpabx%

Le wja cnh l` wjaa ̀ heghei" ja yn wsleibx q}aowag

l` jnphei ne hewsnwjlsnoho ihnew fnbhienew eaqsliaeho wq&

fls yjhoj jng olf}bhonwag E@&>% He phay l` wja }lh&

chbhwx l` qcoqwnealq fawnwnh l` wja hewsnwjlsnoho ih&

new wqfls" ya `hsw onsshag lqw chl}x l` wja qcoqwnea&

lq wqfls l` wja ba`w nzhbbnsx nsan *nclqw ? of he h{a(%

Wja wqfls yn }nwjlblihonbbx snwag n caehie eaqsl`h&

cslfn yhwjlqw fhwlh% Wjq" n ga`hehwa ghnielh l` he&

wsnwjlsnoho ihnew wqfls yn elw }lhcba }sal}asnwhpabx%

Jlyapas" wja hewsnwjlsnoho wqfls aafag wl ca fnbhi&

enew he enwqsa" kqgihei `slf hw obhehonb olqsa neg h{a%

_ja qegasyaew qsiasx le Kneqnsx ?=" 3==0" wl nbbaphnwa

sa}hsnwlsx neg ohsoqbnwlsx ghlsgas onqag cx olf}sa&

hle l` wja shijw bqei neg he`ashls paen onpn *HPO( gqa wl

wja ihnew wqfls% Wja hganb qsihonb }sloagqsa `ls ona

bhda wjh ylqbg ca wl saaow lebx wja wqfls" yjhba banphei

wja bqei n hewnow n }lhcba% Jlyapas" yjae caiheehei

qsiasx `ls wjh ona" ya fnga lqsabpa sangx wl }as&

`lsf }baqsl}eaqfleaowlfx" ninhew wja }lhchbhwx wjnw"

gqshei qsiasx" ya fhijw `heg azwaehpa wqfls hepnhle

l` wja bqei%

Wja ojaw yn l}aeag nw wja bapab l` wja 0wj hewasolwnb

}noa cx fane l` n blei _&jn}ag dhe heohhle *azwaeg&

hei wja wnegnsg }lwaslbnwasnb heohhle `lsynsg neg wjae

cably wja olwnb nsoj(" n jlye he @hi% 7% Yjae ya ole&

gqow qsiasx le n ihnew hewsnwjlsnoho wqfls bhda wja lea

aae he wja }saaew ona" ya qqnbbx ngl}w n }lwaslbnw&

asnb qcolwnb n}}slnoj" yjhoj heplbpa n bnsias heohhle

wjne wja lsghensx }lwaslbnwasnb n}}slnoj% Lqs }snowhoa h

@hi% >% Ojaw Z&snx sapanbag el nhs he wja shijw wjlsnoho onphwx neg

wja faghnwhenb gaphnwhle wl wja ba`w%

8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 3/6

77

_jhfh{q aw nb%

Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:(

cnag le wja phay wjnw ne n}}slnoj nbblyhei n`as neg

flsa sabhncba qsihonb fneh}qbnwhle he n q``hohaewbx yhga

phqnb `habg h aaewhnb `ls ganbhei yhwj wjh dheg l` wq&

fls% Ya ngl}wag wjh n}}slnoj `ls wja }saaew ona ca&

onqa wja wqfls yn pasx bnsia" fndhei hw gh``hoqbw wl he&

gqoa ghblonwhle l` wja bahle neg bqei neg wjq abapnwhei

wja shd l` fnkls cbaaghei `slf n hwa wjnw yn elw gh&

saowbx phhcba% Wja wqfls looq}hag wja shijw wjlsnoho onp&

hwx" yjhba olf}sahei wja aewhsa shijw bqei q}ynsg neg

wja faghnwheqf wl wja ba`w% Wja wqfls jng caae olpasag

yhwj n on}qba cqw jng elw hepngag wja ghn}jsnif ls wja

}ashonsghqf% Caonqa ghblonwhle l` wja wqfls yn elw

}lhcba" ya yasa qencba wl gawasfhea yjawjas ls elw

wqfls hepnhle l` wja HPO yn }saaew% Jlyapas" wqfls

hepnhle l` wja fhggba neg blyas blca l` wja shijw bqei

yn elwag% @ls wjh sanle" }nswhnb saaowhle l` wjaa blca

yn ngghwhlenbbx }as`lsfag% Wja clsgas l` wja fn `slf

wja newashls n}aow l` wja ojaw ynbb yn elw obans" qi&

iawhei wjnw wja wqfls jng lshihenwag `slf wjh nsan *wja

1wj hewasolwnb easpa(% Wl nbbly ne nga~qnwa qsihonb fns&

ihe" wja 1wj olwnb onswhbnia" hewasolwnb fqoba" hewas&

olwnb easpa" hewasolwnb nswasha neg pahe yasa nggh&

whlenbbx saaowag% _heoa wja wqfls yn bnsia *3= of he

ghnfawas( neg caonqa wja phqnb `habg le wja faghnwhenb

hga yn elw cslng aelqij" apae qhei wja }lwaslbnwasnb

qcolwnb n}}slnoj ya jng ngl}wag *ne n}}slnoj heplbp&

hei n bnsias wjne lsghensx heohhle(" hw yn elw }lhcba wl

saaow wja wqfls ae cblo% Hw yn saaowag olf}bawabx n`was

jnphei cahei ghphgag hewl wyl }haoa% N`was wqfls saao&

whle" az}nehle l` wja shijw bqei yn saqfag" cqw hw az&

@hi% 3% Ojaw OW one ghoblag n ihnew fn looq}xhei wja shijw

wjlsnoho onphwx nbflw olf}bawabx% Wja nsan hehga wja fn

jlyag ne qejlfliaealq olewsnw aejneoafaew le olewsnw&

aejneoag OW%

@hi% ?% Ojaw FSH sapanbag n bnsia fn *>8Ù>9Ù>7 of( he wja

shijw wjlsnoho onphwx% N jlfliaealqbx jhij gaehwx yn aae

yhwjhe wja fn nbsangx he wja ansbx }jna l` wja gxenfho wqgx%

Wja fn hewaeabx olf}saag wja faghnwhenb wsqowqsa wl wja

ba`w neg wja bhpas glyeynsg%

@hi% 7% Wja ojaw yn l}aeag cx fane l` n blei _&jn}ag dhe

heohhle *azwaeghei wja wnegnsg }lwaslbnwasnb heohhle ̀ lsynsg

neg wjae cably wja olwnb nsoj(%

8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 4/6

 Hewsnwjlsnoho Fnbhienew ]ash}jasnb Easpa _janwj Wqfls 

Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:( 71

}nehle yn elw bnsia aelqij wl olf}bawabx ̀ hbb wja gang

}noa osanwag cx wqfls saaowhle% Wyl wjlsnoho gsnhe

yasa da}w heaswag neg wja l}asnwhle yn olf}bawag%

Jas }lwl}asnwhpa olqsa yn qeapaew`qb% Nbb heghon&

wls l` sa}hsnwlsx `qeowhle hf}slpag *Wncba% >(" neg

agafn l` wja blyas jnb` l` wja clgx ghn}}ansag" noolf&

}nehag cx ghn}}ansneoa l` jlswea l` csanwj" nbblyhei

n snwhei l` gaisaa HH noolsghei wl wja Jqij&Klea obnh&

`honwhle% _ja yn ghojnsiag 3> gnx n`was qsiasx" sa&

~qhshei el nhwneoa wl ynbd% _apae flewj n`was qs&

iasx" jlyapas" n saoqssaew wqfls yn `lqeg he wja shijw

wjlsnoho onphwx% _ja ghag l` wqfls ? flewj wjasan`was%

Wja saaowag }aohfae olehwag l` n jqia fn"

3=Ù>9Ù>1 of he h{a" 3"?== i he yahijw *@hi% 1(% Hw jng n

`bajx n}}ansneoa yhwj abnwho `hsf neg }nswhnbbx fqoh&

elq olehwaeox% Oqw qs`noa yn xabbly&yjhwa wl isaae&

hj&xabbly yhwj `loh l` jaflssjnia neg eaoslh% Jhwl&

blihonbbx" wja wqfls jng n }hegba&oabbag `nohoqbns n}&

}ansneoa yhwj nbwasenwhei oabbqbns neg ba oabbqbns

`hcslfxzlhg nsan% Fnex l` wja wqfls oabb jng }nba"

}llsbx ga`heag oxwl}bnf neg jx}asojslfnwho eqobah yhwj

n enssly" wn}ashei lqwbhea" l`wae yhwj n ynpx ole`hiqsn&

whle *@hi% 0(% He lfa oabbqbns nsan }balfls}jho oabb

yhwj obans ls alhel}jhbho oxwl}bnf" neg }slfheaew

eqobalbh }slbh`asnwag hewasaowheibx% Fhwla heobqghei

nwx}honb lea yasa anhbx `lqeg% ]ashpnoqbns nooaewqn&

whle neg he`hbwsnwhle l` paab ynbb yasa `sa~qaewbx aae%

Wja wqfls he`hbwsnwag `lonbbx hewl wja bqei }nsaeojxfn

yjhoj yn saaowag wliawjas yhwj wja }shfnsx bahle%

Hffeljhwlojafhonbbx" fnex wqfls oabb az}saag

OG10" neg `lonbbx az}saag eaqsle }aoh`ho aelbna

*E_A(% Wja wqfls ghg elw az}sa _>== }slwahe" ibhnb

`hcshbbnsx nohg }slwahe *I@N](" ξ&fllwj fqoba nowhe

*_FN(" gafhe" fxliaehe" OG?7" neg oxwldasnwhe% Cnag

le wjaa fls}jlblihonb" hffqeljhwlojafhonb" neg obheh&

onb `heghei" wja wqfls yn ghnielag n F]E_W nloh&

nwag yhwj E@&>%

Ghoqhle

E@&> yn obnhonbbx onbbag ‒ple Saodbheijnqae‘ gh&

ana%‖ Hw h n iaeawho ghana wsnefhwwag phn wja nqwll&

fnb glfhenew wsnhw neg heplbpa eaqsl`hcslfn l` dhe"

csnhe" }henb olsg neg easplq xwaf" on`è nq bnhw }lw"

clea bahle" neg l le% Wjh ghana yn enfag he >::3

cx ple Saodbheijnqae% Hw jn caae sa}lswag wjnw fnbhi&

enew easpa janwj wqfls" yjhoj one gawasfhea wja }sli&

elh" olf}bhonwa ple Saodbheijnqae‘ ghana he nclqw

>=! l` nbb ona% Olf}bhonwhle l` wjh ghana cx ele&

eaqsliaeho fnbhienew wqfls jn nbl caae sa}lswag" nb&

wjlqij he n fnbb eqfcas l` ona% Wl }qw hw oleosawabx"

Sa}lsw jnpa caae }qcbhjag oleoasehei ona l` E@&>

olf}bhonwag cx ele&eaqsliaeho fnbhienew wqfls qoj

n inwsho oneoas" bahlfxlnsolfn" bqei oneoas neg in&

wslaewasho oneoas%3(

Eaqsliaeho fnbhienew wqfls nsa olf}lag l` oabb

yjhoj olewhwqwa wja }ash}jasnb easpa janwj *ojynee

oabb" }asheaqsnb oabb" awo%( neg noolqew ̀ ls 1‟>=! l` nbb

fnbhienew l`w whqa wqfls% He n fnklshwx l` ona" wjh

wx}a l` wqfls h noolf}nehag cx E@&>% He wja }nw" eaq&

Wncba >% Ojneia l` }qbflensx `qeowhle waw

]sa ]lw

_}hslfawsx

PO*B( =%:7 >%0>

!PO 3:%9 17%8

@AP>%= *B( =%:9 >%9=

@AP>%= *!( >== >==

Cbllg in nenbxh

}J 9%70> 9%739

]nOL3 *ffJi( ?9%0 ?:%8

]nL3 *ffJi( 99%? :7%7

_nL3 *!( 81%: 80%7

CA *fflb,B( ?%> >%7

Jqij&Klea P½ HH½

]sa" pnbqa ca`lsa qsiasx qegas lzxiae hejnbnwhle nw n snwa

l` ? B,fhe4 ]lw" pnbqa ? yaad n`was qsiasx qegas sllf

nhs4 PO" phwnb on}nohwx4 @AP>%=" `lsoag az}hsnwlsx plbqfa he

>%= 4 ]nOL3" nswashnb }saqsa l` onscle ghlzhga4 ]nL3" ns&

washnb }saqsa l` lzxiae4 _nL3" gaisaa l` nswashnb lzxiae

nwqsnwhle4 CA" cna azoa%

@hi% 1% Wja saaowag }aohfae olehwag l` n jqia fn" 3=Ù>9Ù>1

of he h{a" 3"?== i he yahijw Hw jng n `bajx n}}ansneoa yhwj

abnwho `hsf neg }nswhnbbx fqohelq olehwaeox%

8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 5/6

70

_jhfh{q aw nb%

Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:(

sliaeho fnbhienew wqfls yasa obnh`hag hewl fnbhienew

ojyneelfn" eaqsl`hcslnsolfn" eaqsliaeho nsolfn

neg l le% Jlyapas" wja wjhsg aghwhle l` wja Iaeasnb Sqba

`ls _qsihonb neg ]nwjlblihonb _wqgha le Fnbhienew _l`w

Whqa Wqfls" }sa}nsag he Kqbx 3==3"?( olfcheag wjaa

wqfls hewl n heiba ghana aewhwx ‒fnbhienew }ash}jasnb

easpa janwj wqfls *F]E_W(%‖ F]E_W h ga`heag n wq&

fls nwh`xhei nw banw lea l` wja `lbblyhei `lqs sa~qhsa&

faew; *h( fnbhienew wqfls nshhei ̀ slf }ash}jasnb easpa

ls olewheqlq wl easpa" *hh( caehie eaqsliaeho wqfls

*a%i%" eaqsl`hcslfn( jnphei caae olepaswag hewl fnbhi&

enew wqfls4 *hhh( fnbhienew wqfls gapabl}hei he E@&>

ona" neg *hp( wqfls jnphei jhwlblihonb `anwqsa hfh&

bns wl wjla l` wja nclpa&faewhleag wjsaa wx}a" noolf&

}nehag cx aphgaew hffqeljhwlblihonb ls abaowsle&fhosl&

ol}ho hie l` gh``asaewhnwhle hewl wja easpa janwj%

F]E_W }shfnshbx n``aow azwsafhwha" cqw hw one ga&

pabl} he lwjas pnshlq hwa heobqghei wja wsqed" jang,eaod 

saihle neg l le% Jlyapas" hw leaw he wja wjlsnoho onp&

hwx" n aae he wja }saaew ona" h pasx snsa%7‟0( N wx}honb

obhehonb hie l` F]E_W jnphei gapabl}ag le wja clgx

qs`noa h n sn}hgbx islyhei jnsg sag fn }nb}ncba le

wja dhe qs`noa% Jlyapas" h` F]E_W lshihenwa ̀ slf wja

easpa l` gaa} whqa" bhda he wja }saaew ona" ghsaow lc&

aspnwhle l` wja wqfls h elw }lhcba" neg ansbx ghniel&

h h gh``hoqbw% Caonqa l` gh``hoqbwx he ansbx ghnielh"

F]E_W h l`wae gawaowag n n wqfls yhwj bnsia ghnfawas"

jlyhei hepnhle nblei wja easpa% @ls wjh sanle" qs&

ihonb saaowhle waeg wl ca heolf}bawa%

Wja lebx fane l` snghonb wsanwfaew `ls wjh wqfls h

olf}bawa qsihonb saaowhle neg wja }slielh l` }nwhaew

yhwj F]E_W h hieh`honewbx gawasfheag cx yjawjas ls

elw olf}bawa saaowhle jn caae nojhapag%9":( Ya oneelw

sqba lqw wjnw wja a}nsnwag saaowhle aspag n lea l` wja

`nowls sa}lehcba ̀ ls wja }lw&qsihonb saoqssaeoa% Jly&

apas" ya ojla wja a}nsnwag saaowhle lqw l` olehgas&

nwhle wjnw fnkls cbaaghei gqa wl hekqsx l` wja HPO olqbg

gapabl} h` wja l}asnwhle yasa }as`lsfag yhwjlqw nga~qnwa

gawasfhenwhle l` lshaewnwhle% Saaowhle l` nclqw jnb` l` 

wja ihnew wqfls fnga hw }lhcba `ls q wl hegqoa ghblon&

whle l` wja wqfls% Wjh h }slcncbx wja sanle wjnw ya

qooaagag he n`abx saaowhei wja wqfls yjhba phayhei

wja HPO ghsaowbx" yhwjlqw onqhei cbaaghei% Sainsghei wja

l}asnwhpa }sloagqsa ya abaowag" ya ely sa`baow wjnw ya

jlqbg jnpa ngl}wag }baqsl}eaqfleaowlfx" noolf}n&

ehag cx saaowhle l` wja ghn}jsnif neg }ashonsghqf" wl

nojhapa n n`awx fnsihe% Jlyapas" sainsghei }lw&qsih&

onb saoqssaeoa l` F]E_W" ya wjhed wjnw hw saoqssaeoa h

}shfnshbx nlohnwag yhwj wja chlblihonb fnbhieneox bapab

l` F]E_W%

Le wja lwjas jneg" wja azwaew l` saaowhle eaagag `ls

olf}bawa saaowhle l` wjh wqfls jn elw caae awncbhjag"

neg ~qhwa jhij }lwl}asnwhpa saoqssaeoa snwa jnpa caae

sa}lswag" h%a%" 71%=! *3:,03( cx Gqonwfne aw nb%"8( 7?%>!

*:1,>89( cx Wnehiqojh aw nb%9( neg 70%7! *>?,3:( cx

Yneacl aw nb%>=( N n fane l` sagqohei wja blonb saoqs&

saeoa snwa l` wjh wqfls" Dqehngn aw nb%>>( saolffaegag

saaowhle yhwj ne nw banw n ? of n`awx fnsihe" neg

Neiablp aw nb%>3( sa}lswag cawwas }slielh `lbblyhei sa&

aowhle yhwj n 1 of ls flsa fnsihe% He wja }saaew ona"

hw yn gh``hoqbw wl wnda n 1 of ls flsa n`awx fnsihe ca&

onqa wja wqfls yn blonwag obla wl wja bqei" HPO"

al}jniq" ghn}jsnifn neg bhpas%

Noolsghei wl fnex sa}lsw" ojaflwjasn}x neg snghl&

wjasn}x nsa l`wae hea``aowhpa ninhew wjh wqfls% Jlyapas"

ona sa}leghei yabb wl jhij&gla ojaflwjasn}x yhwj

h`l`nfhga" pheoshwhea" glzlsqchohe ls oxobl}jl}jn&

fhga>?( neg ona fndhei safnsdncba sa}lea wl }lw&

l}asnwhpa jhij&gla snghnwhle>7( jnpa saoaewbx caae sa&

}lswag% Ne n}}sl}shnwa eazw wa} ylqbg aaf wl ca wl

apnbqnwa wja a``honox l` wjaa fawjlg l` wsanwfaew%

Sainsghei ghwnew fawnwnh l` F]E_W" wja heohgaeoa

l` ghwnew fawnwnh *}shfnshbx wl wja bqei( jn caae

sa}lswag wl ca ?8%=! cx Gqonwfne aw nb%8( neg >9%8! cx

Yneacl aw nb%>=( Ghwnew fawnwnh l` wjh wqfls nqfa

wja `lsf l` cbllg&clsea fawnwnh he flw ona" neg

fawnwnh wl bxf}j elga h snsa%8">=(

Wja 1&xans qsphpnb snwa l` }nwhaew yhwj wjh wqfls

@hi% 0% Jhwlblihonbbx" wja wqfls jlyag n }hegba&jn}ag `n&

ohoqbns neg hewasaowhei n}}ansneoa yhwj }nba ls alhel}jhbho

oxwl}bnf% Wja eqobah yasa jx}asojslfnwho yhwj n wn}ashei lqw&

bhea neg n ynpx ole`hiqsnwhle% Bnsia nwx}honb oabb yhwj }slfh&

eaew eqobalbh yasa `sa~qaewbx aae *JA wnhe" lshihenb fnieh`h&

onwhle" Ù7==(%

8/9/2019 Neurofibromatosis 5

http://slidepdf.com/reader/full/neurofibromatosis-5 6/6

 Hewsnwjlsnoho Fnbhienew ]ash}jasnb Easpa _janwj Wqfls 

Nee Wjlsno Onsghlpno _qsi Plb% >7" El% > *3==:( 79

jn caae sa}lswag wl ca >3%:! cx Wnehiqojh aw nb%9( neg

>0%=! cx Gqonwfne aw nb%8( Wjq" wja }slielh l` }n&

whaew yhwj wjh wqfls h }lls% @nowls }lhcbx sa}le&

hcba `ls wja }lls }slielh nsa; *h( wqfls leaw nw n sabn&

whpabx bly nia" *hh( gh``hoqbwx he ansbx ghnielh h` blonwag

he gaa} whqa" neg *hhh( jhij heohgaeoa l` ganwj ̀ slf gh&

wnew fawnwnh gqa wl bhdabhjllg `ls sa}anwag blonb saoqs&

saeoa `lbblyhei qsihonb saaowhle caonqa wja azwaew l` 

saaowhle eaagag `ls olf}bawa wqfls saaowhle jn elw

caae awncbhjag% He wja }saaew ona" blonb saoqssaeoa yn

aae 9 flewj n`was qsiasx" saqbwhei he sn}hg islywj l` 

wja saoqssaew wqfls neg ganwj `slf wqfls%

Oleobqhle

N ona l` F]E_W" jnphei gapabl}ag he wja wjlsnoho onp&

hwx" yn }saaewag% Wjh wqfls l`wae olf}bhonwa E@&>

neg jn n jhij `sa~qaeox l` blonb saoqssaeoa neg ghwnew

fawnwnh" saqbwhei he }lls }slielh% Eahwjas ne l}wh&

fnb azwaew l` saaowhle eaagag ̀ ls olf}bawa saaowhle l` 

wjh wqfls els ne l}whfnb saihfae l` ojaflwjasn}x" sn&

ghlwjasn}x ls lwjas wjasn}x `ls wja wqfls jn xaw caae

awncbhjag% Hw h gahsncba wl awncbhj wjaf he wja eans

`qwqsa%

Sa`asaeoa

>% Nnpnfleidlbdqb N" Khsnenewndne W" Ynhdndqb _"]jlf}hwndn D" Fqneilfclle _% Fnbhienew }ash}j&

asnb easpa janwj wqfls yhwj eaqsl`hcslfnwlh wx}a>; n 3&ona sa}lsw neg saphay l` wja bhwasnwqsa% K Fag 

 Nlo Wjnh 3==>4 :7; 3:1‟8?%3% Flshdnyn F" Jnxnjh J" Jlldnyn L" Dnh{ndh X"

Glgae D" aw nb% N ona l` olbbhhle wqfls he wja }n}hbbn

l` Pnwas `ls ~qhewq}ba oneoas nlohnwag yhwj pleSaodbheijnqae‘ ghana% Inwslaewaslb Aeglol

3==04 7:; >7?9‟7>% *he K}a% yhwj Aeib% Ncws%(?% Wja Lswjl}agho _qsihonb _lohawx% Iaeasnb sqba ̀ ls

obhehonb neg }nwjlblihonb wqgha le fnbhienew l`w wh&

qa wqfls% ?sg ag% Wldxl; Dneajnsn" 3==34 }}>1=‟:%

*he K}a%(7% Helqa F" Fhwqglfh W" Lndh W" Lxnfn W" Jnsnwnda K"

aw nb% Fnbhienew wsne`lsfnwhle l` ne hewsnwjlsnoho eaq&

sl`hcslfn he ple Saodbheijnqae‘ ghana% _oneg 

Onsghlpno K >88:4 ?3; >9?‟1%

1% ]nsd KJ" Ojlh DJ" Baa JC" Sjaa XD" Baa XO" aw nb%Hewsnwjlsnoho fnbhienew }ash}jasnb easpa janwj wqflshe ple Saodbheijnqae‘ ghana% Dlsane K Hewase Fag 

3==>4 >0; 3=>‟7%0% Dhf KI" _qei YK" Dhf GJ" Dhf XJ" _lje _D" aw nb%

Fnbhienew }ash}jasnb easpa janwj wqfls he eaqsl`h&cslfnwlh wx}a H; qeqqnb }saaewnwhle l` hewsnnc&

glfhenb ls hewsnwjlsnoho fn% Dlsane K Hewase Fag 

3==14 3=; >==‟7%9% Wnehiqojh N" Elinyn N" Wndngn F" Jnjhflwl W"

Dhfqsn _" aw nb% Fnbhienew ojyneelfn he pleSaodbheijnqae‘ ghana% Sa}lsw l` wyl ona neg wn&

whwhonb nenbxh l` Kn}neaa sa}lsw% _dhe Oneoas >8834

9; 9:‟:?% *he K}a%(:% Nnh D" _q{qdh D" _jhflwn J" Wndnjnjh W" Xnfnjhwn

D" aw nb% Fnbhienew }ash}jasnb easpa janwj wqfls l` 

wja faghnwheqf; n waf}lsnsx nlswho wsneaowhle n}&}slnoj% K Wjlsno Onsghlpno _qsi 3==74 >3:; 0>1‟9%

8% Gqonwfne C_" _ojahwjnqas CY" ]ha}isn GI" SahfneJF" Hbwsq} GF% Fnbhienew }ash}jasnb easpa janwj

wqfls% N obhehol}nwjlbliho wqgx l` >3= ona% One&

oas >8:04 19; 3==0‟3>%

>=% Yneacl KA" Fnbhd KF" PnegaeCasi _S" Yneacl JK"Gshaae E" aw nb% Fnbhienew }ash}jasnb easpa janwjwqfls% N obhehol}nwjlbliho wqgx l` 3: ona% Oneoas 

>88?4 9>; >379‟1?%>>% Dqehngn W" Dnynh N" L{ndh W" _qihjnsn _" Wniqojh D"

aw nb% N obhehonb nenbxh l` fnbhienew ojyneelfn%

 Nown Fag Ldnxnfn >8894 1>; :9‟83%

>3% Neiablp B" Gnph N" L‘_qbbhpne C" Cabb S" Iqjn N%Eaqsliaeho nsolfn; az}ashaeoa nw wja Qehpashwx l` Wlslewl% Eaqslqsiasx >88:4 7?; 10‟01%

>?% Fnqh @" Xldlxnfn S" _ljh _" Ca}}q X" Nneqfn D"aw nb% N fnbhienew }ash}jasnb easpa&janwj wqfls sa&

}leghei wl ojaflwjasn}x% K Clea Klhew _qsi Cs 3==74

:0; >>?‟1%>7% Xlea D" Hkhsh D" Jnxnjh D" Xldlqojh F" Wndaelqojh

W" aw nb% ]shfnsx fnbhienew }ash}jasnb easpa janwj wq&fls l` wja onqgn a~qhen he n ojhbg ona sa}lsw% _}henb

Olsg 3==74 73; >88‟3=?%