neurofibromatosis 19

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  • 8/9/2019 Neurofibromatosis 19

    1/5

    271 Tbqw 6

    Nmbtwfq .

    FPOHVWCOE BEG OQCLCE O@ EFVQO@CAQOKCE(

    WMF TQOGVNW O@ WMFEFVQO@CAQOKBWO^C^

    WSTF 2 -E@2# WVKOQ+^VTQF^^OQ LFEF

    Lohopeceb J%)2( Ahceop B%

    2( Nmbel H%+^%

    1

    2Ce~wcwvwf o` Nswohols beg Lfefwcn~( ^A QB^( Eopo~cacq~j( Qv~~cb:

    1Nfewfq `oq Nmchgmoog Nbenfq(

    Nmchgqfe~ Qf~fbqnm Ce~wcwvwf( Nmchgqfe~ Mo~tcwbh beg Gftbqwkfew o` Tfgcbwqcn~( Wmf Omco ^wbwf

    Vecpfq~cws( V^B)

    Noqqf~toegcel bvwmoq9 f+kbch9 j~vDacoefw%e~n%qv

    Jfs |oqg~9 efvqo`caqokce( wmf Efvqo`caqokbwo~c~ wstf 2 -E@2# lfef( Qb~LBT tqowfce `bkchs(

    LWTb~f+bnwcpbwoq tqowfce~ `oq Qb~+hcjf LWTb~f( tmsholfes( AHB^W

    ^VKKBQS

    Kowcpbwcoe9 Efvqo`caqokbwo~c~ wstf 2 -E@2# c~ b nokkoe lfefwcn gc~oqgfq( |mcnmtqfgc~to~f~ b``fnwfg cegcpcgvbh~ wo b pbqcfws o` nhcecnbh `fbwvqf~ cenhvgcel wvkoq~ o` wmfnfewqbh beg tfqctmfqbh efqpov~ ~s~wfk~% Wmf tqogvnw o` wmf E@2 lfef( efvqo`caqokce( c~ bwvkoq ~vttqf~~oq |mcnm ko~w hcjfhs bnw~ wmqovlm wmf cewfqbnwcoe o` cw~ LWTb~f bnwcpbwcel tqowfce -LBT# qfhbwfg gokbce -LQG# |cwm QB^ wo qflvhbwf nfhhvhbq lqo|wm% \mchf

    nhcecnbh `fbwvqf~ o` E@2 b~ |fhh b~ `venwcoebh bnwcpcws o` mvkbe efvqo`caqokce bqfcewfe~cpfhs ~wvgcfg eo| hcwwhf c~ vegfq~woog baovw cw~ fpohvwcoe( gcpfq~cws( beg opfqbhhgc~wqcavwcoe bkoel gc``fqfew wb}b%

    Qf~vhw~9 As nokacecel acoce`oqkbwcn beg tmsholfefwcn bttqobnmf~( |fgfkoe~wqbwfg wmbw E@2 mokohol~ bqf tqf~few bnqo~~ b |cgf qbelf o` fvjbqsowcnhcefblf~% \f oa~fqpfg 10 ~ckchbq wo E@2 bkceo+bncg ~frvfenf~ `qok Nmoqgbwb(

    Fnmceogfqkbwb( Bqwmqotogb( Thbwsmfhkcewf~ beg @velc wb}oe~% Wbjcel cewo bnnovew b tqf~fenf o`E@2 lfef ce `velc( |f nbe ~vllf~w wmf gfqcpbwcoe o` wmc~ lfef af`oqf wmfKfwbyobe oqclce% Ce wmc~ nb~f( be ba~fenf o`E@2 ce Efkbwogb beg Kohhv~nb ~movhg af

    b qf~vhw o` wmc~ lfef fhckcebwcoe%

    CEWQOGVNWCOE

    Nhcecnbh `fbwvqf~ o` E@2% Efvqo`caqokbwo~c~ wstf C -E@2# oq poe Qfnjhcelmbv~feefvqo`caqokbwo~c~ c~ wmf ko~w nokkoe nbenfq tqfgc~to~cwcoe ~segqokf b``fnwcel wmfefqpov~ ~s~wfk |cwm wmf cencgfenf o` 2 ce >444 |oqhg|cgf -Lvwkbee( 1442#% Wstcnbh

    kbec`f~wbwcoe~ cenhvgf nb` bv hbcw ~tow~ -mstfqtclkfewfg kbnvhf~#( nvwbefov~ beg

    ~vanvwbefov~ efvqo`caqokb~ -afecle wvkoq~#( beg kbhclebencf~ o` wmf nfewqbh beg tfqctmfqbh efqpov~ ~s~wfk~% Wmf hf~~ nokkoe baeoqkbhcwcf~ oa~fqpfg ce E@2 tbwcfew~

    cenhvgf hfbqecel gc~bachcwcf~ -bhwmovlm `qbej kfewbh qfwbqgbwcoe c~ qbqf# beg ~jfhfwbh

    baeoqkbhcwcf~ ~vnm b~ ~nohco~c~beg t~fvgobqwmqo~c~ -^jv~f( Nbttcoef( 233

  • 8/9/2019 Neurofibromatosis 19

    2/5

    Noktbqbwcpf beg fpohvwcoebqs lfeokcn~ beg tqowfokcn~ 27>

    Lfefwcn `fbwvqf~ o` E@2%Fbqhs ce~clmw~ cewo wmf tbwolfef~c~ o` E@2+b~~oncbwfg wvkoq~

    aflbe |cwm wmf cgfewc`cnbwcoe o` wmfE@2 lfef ce 2334 -\bhhbnf fw bh%( 2334#% WmfE@2 lfefcw~fh`( honbwfg bw 244 ja o` mvkbe nmqoko~okf 2< -Hc fw bh%( 2336#%Wmf 04 f}oe~ |mcnm noe~wcwvwf wmf mvkbeE@2 lfef lcpf qc~f wo ~fpfqbh bhwfqebwcpfhs ~thcnfgwqbe~nqctw~% \cwmce wmf nfewqbh toqwcoe o` wmfE@2 fenogfg tqowfce( efvqo`caqokce( hcf~ b qflcoe|cwm mokohols |cwm wmf kbkkbhcbe LWTb~f bnwcpbwcel tqowfce~ -LBT# beg wmf sfb~w cemcacwoq

    o` QB^ tqowfce~ 2 beg 1 wfqkfg wmf LBT qfhbwfg gokbce -LQG#%Efvqo`caqokbwo~f~% Gc~nv~~coe~ baovw efvqo`caqokbwo~f~ cenhvgf w|o wmf ko~wnokkoe `oqk~ o` wmc~ gc~oqgfq9 efvqo`caqokbwo~c~ 2-E@2# beg efvqo`caqokbwo~c~ 1 -E@1#%

    Cegcpcgvbh~ |cwm w|o cemfqcwfg nbenfq ~segqokf~( E@2 beg E@1 gfpfhot aowm afecle begkbhclebew wvkoq~% Wmf noqqf~toegcel lfef~ kvwbwfg ce wmf~f w|o gc~oqgfq~ fenogf wvkoq

    ~vttqf~~oq tqowfce~( wfqkfg efvqo`caqokce -E@2# beg kfqhce -E@1#( |mcnm mbpf b ~ckchbq`venwcoe wo qflvhbwf nfhh lqo|wm beg gc``fqfewcbwcoe% \mchf aowm lfef~ bqf eow qfhbwfg beg

    honbwfg oe wmf gc``fqfew nmqoko~okf~ ce mvkbe( eowmcel c~ jeo|e baovw wmfcq qfhbwcoe~mct~(gc~wqcavwcoe beg `venwcoe ce owmfq oqlbec~k b~ |fhh b~ baovw wmfcq oqclce%

    Ce wmf tqfpcov~ ~wvgs |f cepf~wclbwfg fpohvwcoe o` kfqhce beg to~wvhbwfg cw~ oqclce ce

    fbqhs kfwbyobe -Lohopeceb fw bh%( 1446#% Mfqf |f qftqf~few wmf cecwcbh tmsholfefwcnqf~fbqnm o` E@2 tqowfce beg cw~ mokohol~ ab~fg oe acoce`oqkbwcn~ bttqobnmf~%

    KFWMOG^ BEG BHLOQCWMK^

    AHB^W ~fbqnm% Cecwcbh ~frvfenf~ o` lfef~ beg tqowfce~ o` cewfqf~w `qok pbqcov~

    oqlbec~k~ |fqf cgfewc`cfg as tfq`oqkcel kvhwcthf WAHB^WE beg AHB^WT -Bhw~nmvh fwbh%( 233%2tqolqbk -Jvkbqfw bh%( 1447#%

    QF^VHW^ BEG GC^NV^^COE

    Ce wowbh( 11 E@2+hcjf ~frvfenf~( wmbw mbpf opfqbhh mokohols( `qok Gfvwfqo~wokcb(Bqwmqotogb( Thbwsmfhkcewf~ mbpf affe honbwfg ce wmf tqf~few cepf~wclbwcoe% Wmf kbce

    nqcwfqcoe `oq cgfewc`cnbwcoe wmf~f ~frvfenf~ |b~ wmfcq fpcgfew mokohols wo jeo|e E@2 tqowfce~% Koqfopfq( |f mbpf `oveg `ovq @velc tqowfce~ wmbw ~mo| eow ~o ~wqoelhs~ckchbqcws wo E@2+hcjf ~frvfenf~% @cpf o` 11 E@2+hcjf tqowfce~ bqf f}tfqckfewbhhs

    beeowbwfg( ebkfhs M% ~btcfe~E@2( K% kv~nvhv~ E@2( Q% eoqpflcnv~ E@2( W% qvaqctf~E@2( beg G% kfhbeolb~wfqE@2% Fclmw mokohol~ |fqf acoce`oqkbwcn~ tqfgcnwfg tqfpcov~hs beg |fqf honbwfg as cecwcbh AHB^WT ~fbqnm bnqo~~ ENAC gbwbab~f

    ALQ^1440

  • 8/9/2019 Neurofibromatosis 19

    3/5

    277 Tbqw 6

    -T% wqolhogswf~( N% `bkchcbqc~( L% lbhhv~( B% lbkacbf#( b~ |fhh b~ E@2+qfhbwfg tqowfce o`E% nqb~~b beg wmqff owmfq Qb~LBT~ o` `velc%

    Wmf qf~w ~frvfenf~ |fqf b~~fkahfg kbevbhhs as tbqw~ v~cel bpbchbahf tbcqfg ~nb``ohg~(

    noewcl~( beg b~~fkahcf~ o` wmf ~frvfenfg lfeokf~ wolfwmfq |cwm tqowfce beg F^Wgbwbab~f~% Ab~fg oe wmf oawbcefg E@2 ~frvfenf~ beg wmf nho~f qfhbwfg tqowfce~ wmftmsholfefwcn wqff |b~ noe~wqvnwfg -@cl% 2#% Qb~Lbt `bkchs kfkafq~ `qok beowmfq lqovt~

    |fqf cenhvgfg ce ovq bebhs~c~ b~ be ovwlqovt wo ~mo| b mokohols o` bhh oawbcefg E@2+hcjf ~frvfenf~% \f noegvnwfg tmsholfefwcn bebhs~c~ cenhvgcel oehs Qb~Lbt gokbce begnoqqf~toegcel ~frvfenf~ o` ef|hs cgfewc`cfg tqowfce~ ce pcf| o` to~~cahf gc``fqfew oqclce

    o` ~okf owmfq gokbce~ f}nftw Qb~Lbt -@cl% 1# Aowm wqff~ bqf ~ckchbq ce wotohols |cwm~kbhh bhwfqbwcoe~ ce @velc lqovt%

    @clvqf 2% Tmsholfefwcn bebhs~c~ o` E@2 mokohol~ beg cw~ nho~f qfhbwfg tqowfce~ `qok Qb~LBT lqovt%

    E@2 nhbgf c~ ~mo|e as ~ohcg hcef oe wmf qclmw% Wmf gb~mfg hcef gfeowf~ oa~fqpfg `velc tqowfce~ wmbw bqf

    ~ckchbq wo E@2% VecTqow bnnf~~coe evkafq~ `oq `vhh hfelwm ~frvfenf~ bqf qftqf~fewfg ce aohg hfwwfq~(

    LfeAbej ce qflvhbq%

    ALQ^1440

  • 8/9/2019 Neurofibromatosis 19

    4/5

    Noktbqbwcpf beg fpohvwcoebqs lfeokcn~ beg tqowfokcn~ 276

    @clvqf 1% Tmsholfefwcn bebhs~c~ o` E@2 mokohol~ beg cw~ nho~f qfhbwfg tqowfce~ `qok Qb~LBT lqovt

    ab~fg oe Qb~Lbt gokbce ~frvfenf~% @velc tqowfce~ wmbw mbpf ~ckchbqcws |cwm E@2+hcjf ~frvfenf~ bqf

    kbqjfg |cwm gbqj qoveg%

    Tmsholfefwcn bebhs~c~ gfkoe~wqbwf b gc~wqcavwcoe o` E@2 mokohol~ bnqo~~ bhhcepf~wclbwfg beg bpbchbahf wo gbwf wmf kbioq kfwbyobe -nmoqgbwb( vqonmoqgbwb(

    fnmceogfqkbwb( ce~fnw~( beg thbwsmfhkcewf~# beg `velc hcefblf~% Bkoel bhh ~tfncf~cepf~wclbwfg( eo E@2 ~frvfenf~ mbpf affe `oveg ce qoveg |oqk~ -N% fhflbe~(N% aqcll~bf( N% qfkbecf( A% kbhbsc# beg kohhv~j -A% lhbaqbwb#% Wmfqf bqf w|o to~~cahf

    f}thbebwcoe~9 -c# wmf gfqcpbwcoe o`E@2 lfef onnvqfg b`wfq b ~ftbqbwcoe o` aowm Efkbwogbbeg kohhv~nb oq -cc# cw |b~ ho~w ~tfnc`cnbhhs ce wmf~f lqovt~% Ce N% fhflbe~ lfeokf |fqftqfpcov~hs beeowbwfg Qb~LBT `bkchs kfkafq~ -LBT2 beg LBT1# wmbw mbpf mokohol~ ce

    N% aqcll~bf lfeokf% Wmfs bqf nhb~wfqcyfg wolfwmfq |cwm ~seQB^ lqovt o` tqowfce~ wmbwkfbe~ wmfcq fpohvwcoebqs qfhbwfgef~~% Wmf tqf~fenf o` E@2+qfhbwfg ~frvfenf~ ce `velc c~gc~tvwbahf% E@2+hcjf tqowfce~ mbpf affe `oveg ce `ovq ~tfncf~ o` `velc jcelgok(

    afhoelcel wo aowm B~noksnowb beg Ab~cgcoksnowb% Wmf~f bkceo+bncg ~frvfenf~ mbpfopfqbhh ~ckchbqcws wo owmfq E@2+hcjf tqowfce~ avw eow ~o ~wqoel af~cgf~ ~frvfenf~noqqf~toegcel wo Qb~Lbt gokbce bqf koqf ~ckchbq wo owmfq `velc Qb~Lbt tqowfce~-@cl% 1#% Oef o` wmfk -E% nqb~~b# |b~ tqfpcov~hs beeowbwfg b~ E@2+qfhbwfg tqowfce% Oe wmfowmfq mbeg~( eo E@2+hcjf ~frvfenf~ |fqf gfwfnwfg ce wmf qf~w `velc ~tfncf~ f}bkcefg%

    ALQ^1440

  • 8/9/2019 Neurofibromatosis 19

    5/5

    270 Tbqw 6

    Wmfqf`oqf( wmf qoow o` efvqo`caqokce oqclce c~ venhfbq eo| beg |cwm wmf lqfbw tqolqf~~ celfeokf ~frvfencel tqoifnw~ cw tqokc~fg wo af koqf gf`cecwf% Tqfpcov~hs( eo kfqhcemokohol~ -beowmfq wvkoq ~vttqf~~oq# ce `velc |fqf oa~fqpfg%

    BNJEO\HFGLFKFEW^

    Wmc~ ~wvgs |b~ ~vttoqwfg as lqbew~ `qok wmf V^ Gftbqwkfew o` Gf`fe~fEfvqo`caqokbwo~c~ Qf~fbqnm Tqolqbk%

    QF@FQFENF^

    Bhw~nmvh ^%@%( Kbggfe W%H%( ^nmb``fq B%B%( Ymbel I%( Ymbel Y%( Kchhfq \%( Hctkbe G%I% -233>=3>741%

    Lohopeceb J%( Ahceop B%( Bjmkbkfwsfpb F%K%( Okfhsbenmvj H%P%( Nmbel H%+^% -1446# Fpohvwcoe beg

    oqclce o` kfqhce( wmf tqogvnw o` wmf efvqo`caqokbwo~c~ wstf 1 -E@1# wvkoq+~vttqf~~oq lfef% AKN

    Fpohvwcoebqs Acohols( 6( 03%Lvwkbee G%M% -1442# Wmf efvqo`caqokbwo~c~9 |mfe hf~~ c~ koqf% Mvk% Koh% Lfefw%( 24(